Identification Number:
DI 23022 TN 53
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:Disability
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
Transmittal No. 53, 08/10/2022

Audience

PSC: CS, DEC, DTE, IES, RECONR;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;
ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

08/15/2022

Background

New conditions were added to the Compassionate Allowances (CAL) list and became effective on August 15, 2022. Consequently, we are adding 12 conditions to the list of conditions provided in DI 23022.080 and adding the following sections to provide guidance on how the new CAL conditions can be evaluated.

Angioimmunoblastic T-cell Lymphoma – DI 23022.357

Blastic Plasmacytoid Dendritic Cell Neoplasm – DI 23022.117

Gerstmann-Straussler-Scheinker Disease – DI 23022.403

Microvillus Inclusion Disease – Child – DI 23022.453

Mowat-Wilson Syndrome – DI 23022.457

Myelodysplastic Syndrome with Excess Blasts – DI 23022.463

NUT Carcinoma – DI 23022.477

Pfeiffer Syndrome - Types II and III – DI 23022.481

Pontocerebellar Hypoplasia – DI 23022.482

Posterior Cortical Atrophy – DI 23022.643

Renal Amyloidosis – AL Type – DI 23022.878

Sarcomatoid Mesothelioma – DI 23022.587

Summary of Changes

DI 23022.080 List of Compassionate Allowances (CAL) Conditions

Added the following new sections to the list of Compassionate Allowances (CAL) conditions:

  • DI 23022.117 Blastic Plasmacytoid Dendritic Cell Neoplasm

  • DI 23022.463 Myelodysplastic Syndrome with Excess Blasts

Corrected spelling of "unresectable" in title of DI 23022.190

 

DI 23022.117 Blastic Plasmacytoid Dendritic Cell Neoplasm

New section

DI 23022.357 Angioimmunoblastic T-Cell Lymphoma

New section

DI 23022.403 Gerstmann-Straussler-Scheinker Disease

New section

DI 23022.453 Microvillus Inclusion Disease – Child

New section

DI 23022.457 Mowat-Wilson Syndrome

New section

DI 23022.463 Myelodysplastic Syndrome with Excess Blasts

New section

DI 23022.477 NUT Carcinoma

New section

DI 23022.481 Pfeiffer Syndrome - Types II and III

New section

DI 23022.482 Pontocerebellar Hypoplasia

New section

DI 23022.587 Sarcomatoid Mesothelioma

New section

DI 23022.643 Posterior Cortical Atrophy

New section

DI 23022.878 Renal Amyloidosis - AL Type

New section

 

DI 23022.080 List of Compassionate Allowances (CAL) Conditions

The following is a complete list of CAL conditions:

Section Title

Section Number

Acute Leukemia

DI 23022.085

Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.090

Adult Non-Hodgkin Lymphoma

DI 23022.921

Adult Onset Huntington Disease

DI 23022.923

Aicardi-Goutieres Syndrome

DI 23022.665

Alexander Disease (ALX) -- Neonatal and Infantile

DI 23022.095

Allan-Herndon-Dudley Syndrome

DI 23022.925

Alobar Holoprosencephaly

DI 23022.670

Alpers Disease

DI 23022.675

Alpha Mannosidosis -- Type II and III

DI 23022.680

Alstrom Syndrome

DI 23022.350

Alveolar Soft Part Sarcoma

DI 23022.927

Amegakaryocytic Thrombocytopenia

DI 23022.355

Amyotrophic Lateral Sclerosis (ALS)

DI 23022.100

Anaplastic Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.105

Angelman Syndrome

DI 23022.600

Aortic Atresia

DI 23022.540

Angioimmunoblastic T-Cell Lymphoma

DI 23022.357

Angiosarcoma

DI 23022.106

Aplastic Anemia

DI 23022.929

Astrocytoma -- GRADE III and IV

DI 23022.110

Ataxia Telangiectasia

DI 23022.360

Atypical Teratoid/Rhabdoid Tumor

DI 23022.111

Batten Disease

DI 23022.365

Beta Thalassemia Major

DI 23022.931

Bilateral Optic Atrophy -- Infantile

DI 23022.933

Bilateral Retinoblastoma

DI 23022.370

Bladder Cancer -- with distant metastases or inoperable or unresectable

DI 23022.115

Blastic Plasmacytoid Dendritic Cell Neoplasm

DI 23022.117

Breast Cancer -- with distant metastases or inoperable or unresectable

DI 23022.125

CACH -- Vanishing White Matter Disease -- Infantile and Childhood Onset Forms

DI 23022.127

Canavan Disease (CD)

DI 23022.130

Carcinoma of Unknown Primary Site

DI 23022.685

Cardiac Amyloidosis - AL Type

DI 23022.580

Caudal Regression Syndrome - Types III and IV

DI 23022.935

CDKL5 Deficiency Disorder

DI 23022.133

Cerebro Oculo Facio Skeletal (COFS) Syndrome

DI 23022.135

Cerebrotendinous Xanthomatosis

DI 23022.690

Charlevoix-Saguenay Spastic Ataxia

DI 23022.144

Child Neuroblastoma- - with distant metastasis or recurrent

DI 23022.695

Child Non-Hodgkin Lymphoma -- recurrent

DI 23022.700

Child T-Cell Lymphoblastic Lymphoma

DI 23022.937

Chondrosarcoma- - with multimodal therapy

DI 23022.705

Choroid Plexus Carcinoma

DI 23022.938

Chronic Idiopathic Intestinal Pseudo Obstruction

DI 23022.136

Chronic Myelogenous Leukemia -- Blast Phase

DI 23022.140

CIC-rearranged Sarcoma

DI 23022.543

Coffin-Lowry Syndrome

DI 23022.141

Congenital Lymphedema

DI 23022.939

Congenital Myotonic Dystrophy

DI 23022.143

Congenital Zika Syndrome

DI 23022.373

Cornelia de Lange Syndrome -- Classic Form

DI 23022.710

Corticobasal Degeneration

DI 23022.605

Creutzfeldt-Jakob Disease (CJD) -- Adult

DI 23022.145

Cri du Chat Syndrome

DI 23022.375

Degos Disease, Systemic

DI 23022.380

DeSanctis Cacchione Syndrome

DI 23022.941

Desmoplastic Mesothelioma

DI 23022.382

Desmoplastic Small Round Cell Tumors

DI 23022.146

Dravet Syndrome

DI 23022.943

Duchenne Muscular Dystrophy – Adult

DI 23022.940

Early-Onset Alzheimer’s Disease

DI 23022.385

Edwards Syndrome (Trisomy 18)

DI 23022.390

Eisenmenger Syndrome

DI 23022.545

Endometrial Stromal Sarcoma

DI 23022.945

Endomyocardial Fibrosis

DI 23022.550

Ependymoblastoma (Child Brain Tumor)

DI 23022.150

Erdheim Chester Disease

DI 23022.947

Esophageal Cancer

DI 23022.155

Esthesioneuroblastoma

DI 23022.156

Ewing Sarcoma

DI 23022.715

Farber’s Disease (FD) -- Infantile

DI 23022.160

Fatal Familial Insomnia

DI 23022.949

Fibrodysplasia Ossificans Progressiva

DI 23022.395

Fibrolamellar Cancer

DI 23022.163

Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

DI 23022.720

Friedreichs Ataxia (FRDA)

DI 23022.165

Frontotemporal Dementia (FTD) Picks Disease -- Type A – Adult

DI 23022.170

Fryns Syndrome

DI 23022.951

Fucosidosis – Type I

DI 23022.725

Fukuyama Congenital Muscular Dystrophy

DI 23022.400

Fulminant Giant Cell Myocarditis

DI 23022.953

Galactosialidosis – Early and Late Infantile Types

DI 23022.730

Gallbladder Cancer

DI 23022.175

Gaucher Disease (GD) -- Type 2

DI 23022.180

Gerstmann-Straussler-Scheinker Disease

DI 23022.403

Giant Axonal Neuropathy

DI 23022.181

Glioblastoma Multiforme (Brain Tumor)

DI 23022.185

Glioma Grade III and IV

DI 23022.735

Gluteric Acidemia – Type II

DI 23022.470

GM1 - Gangliodosis - Infantile & Juvenile Forms

DI 23022.186

Head and Neck Cancers -- with distant metastasis or inoperable or unresectable

DI 23022.190

Heart Transplant Graft Failure

DI 23022.555

Heart Transplant Wait List – 1A/1B

DI 23022.560

Hemophagocytic Lymphohistiocytosis

DI 23022.405

Hepatoblastoma

DI 23022.745

Hepatopulmonary Syndrome

DI 23022.955

Hepatorenal Syndrome

DI 23022.957

Histiocytosis Syndromes

DI 23022.750

Hoyeraal-Hreidarsson Syndrome

DI 23022.191

Hutchinson-Gilford Progeria Syndrome

DI 23022.755

Hydranencephaly

DI 23022.760

Hypocomplementemic Urticarial Vasculitis Syndrome

DI 23022.765

Hypophosphatasia- Perinatal (Lethal) and Infantile Onset Types

DI 23022.770

Hypoplastic Left Heart Syndrome

DI 23022.565

I Cell Disease

DI 23022.775

Idiopathic Pulmonary Fibrosis

DI 23022.420

Infantile Free Sialic Acid Storage Disease

DI 23022.780

Infantile Neuroaxonal Dystrophy (INAD)

DI 23022.195

Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.425

Inflammatory Breast Cancer (IBC)

DI 23022.200

Intracranial Hemangiopericytoma

DI 23022.201

Jervell and Lange-Nielsen Syndrome

DI 23022.959

Joubert Syndrome

DI 23022.202

Junctional Epidermolysis Bullosa Lethal Type

DI 23022.430

Juvenile Onset Huntington Disease

DI 23022.785

Kidney Cancer -- inoperable or unresectable

DI 23022.205

Kleefstra Syndrome

DI 23022.207

Krabbe Disease (KD) -- Infantile

DI 23022.210

Kufs Disease Type A and B

DI 23022.790

Large Intestine Cancer -- with distant metastasis or inoperable, unresectable or recurrent

DI 23022.215

Late Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.435

Leigh’s Disease

DI 23022.440

Leiomyosarcoma

DI 23022.961

Leptomeningeal Carcinomatosis

DI 23022.216

Lesch-Nyhan Syndrome (LNS)

DI 23022.220

Lewy Body Dementia

DI 23022.610

Liposarcoma – metastatic or recurrent

DI 23022.221

Lissencephaly

DI 23022.795

Liver Cancer

DI 23022.225

Lowe Syndrome

DI 23022.615

Lymphomatoid Granulomatosis - Grade III

DI 23022.800

Malignant Brain Stem Gliomas - Childhood

DI 23022.805

Malignant Ectomesenchymoma

DI 23022.226

Malignant Gastrointestinal Stromal Tumor

DI 23022.963

Malignant Germ Cell Tumor

DI 23022.965

Malignant Multiple Sclerosis

DI 23022.620

Malignant Renal Rhabdoid Tumor

DI 23022.227

Mantle Cell Lymphoma (MCL)

DI 23022.230

Maple Syrup Urine Disease

DI 23022.445

Marshall-Smith Syndrome

DI 23022.231

Mastocytosis - Type IV

DI 23022.815

MECP 2 Duplication Syndrome

DI 23022.967

Medulloblastoma - with metastasis

DI 23022.820

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

DI 23022.233

Megalencephaly-Capillary Malformation Syndrome

DI 23022.234

Menkes Disease - Classic or Infantile Onset Form

DI 23022.969

Merkel Cell Carcinoma - with metastasis

DI 23022.825

Merosin Deficient Congenital Muscular Dystrophy

DI 23022.450

Metachromatic Leukodystrophy - Late Infantile

DI 23022.235

Microvillus Inclusion Disease – Child

DI 23022.453

Mitral Valve Atresia

DI 23022.575

Mixed Dementia

DI 23022.455

Mowat-Wilson Syndrome

DI 23022.457

MPS I, formerly known as Hurler Syndrome

DI 23022.415

MPS II, formerly known as Hunter Syndrome

DI 23022.410

MPS III, formerly known as Sanfilippo Syndrome

DI 23022.495

Mucosal Melanoma

DI 23022.460

Multicentric Castleman Disease

DI 23022.625

Multiple System Atrophy

DI 23022.630

Myelodysplastic Syndrome with Excess Blasts

DI 23022.463

Myocolonic Epilepsy and Ragged Red Fibers Syndrome

DI 23022.830

Neonatal Adrenoleukodystrophy

DI 23022.465

(Neonatal) Glutaric Acidemia

DI 23022.470

Nephrogenic Systemic Fibrosis

DI 23022.835

NFU-1 Mitochondrial Disease

DI 23022.971

Nicolaides-Baraitser Syndrome

DI 23022.236

Niemann-Pick Disease (NPD) -- type A

DI 23022.240

Niemann-Pick Disease Type C

DI 23022.475

Nonketotic Hyperglycinemia

DI 23022.973

Non-Small Cell Lung Cancer -- with metastases to or beyond the hilar nodes or inoperable, unresectable or recurrent

DI 23022.245

NUT Carcinoma

DI 23022.477

Obliterative Bronchiolitis

DI 23022.840

Ohtahara Syndrome

DI 23022.845

Oligodendroglioma Brain Tumor- Grade III

DI 23022.246

Ornithine Transcarbamylase (OTC) Deficiency

DI 23022.250

Orthochromatic Leukodystrophy with Pigmented Glia

DI 23022.850

Osteogenesis Imperfecta (OI) -- Type II

DI 23022.255

Osteosarcoma, formerly known as Bone Cancer -- with distant metastases or inoperable or unresectable

DI 23022.120

Ovarian Cancer -- with distant metastases or inoperable or unresectable

DI 23022.260

Pallister-Killian Syndrome

DI 23022.261

Pancreatic Cancer

DI 23022.265

Paraneoplastic Pemphigus

DI 23022.635

Patau Syndrome (Trisomy 13)

DI 23022.480

Pearson Syndrome

DI 23022.855

Pelizaeus-Merzbacher Disease -- Classic Form

DI 23022.860

Pelizaeus-Merzbacher Disease -- Connatal Form

DI 23022.865

Pericardial Mesothelioma

DI 23022.266

Peripheral Nerve Cancer -- metastatic or recurrent

DI 23022.870

Peritoneal Mesothelioma

DI 23022.270

Peritoneal Mucinous Carcinomatosis

DI 23022.975

Perry Syndrome

DI 23022.875

Pfeiffer Syndrome - Types II and III

DI 23022.481

Phelan-McDermid Syndrome

DI 23022.977

Pitt Hopkins Syndrome

DI 23022.877

Pleural Mesothelioma

DI 23022.275

Pompe Disease -- Infantile

DI 23022.280

Pontocerebellar Hypoplasia

DI 23022.482

Posterior Cortical Atrophy

DI 23022.643

Primary Central Nervous System Lymphoma

DI 23022.640

Primary Effusion Lymphoma

DI 23022.645

Primary Peritoneal Cancer

DI 23022.483

Primary Progressive Aphasia

DI 23022.485

Progressive Bulbar Palsy

DI 23022.281

Progressive Multifocal Leukoencephalopathy

DI 23022.490

Progressive Supranuclear Palsy

DI 23022.650

Prostate Cancer- Hormone Refractory Disease— or with visceral metastases

DI 23022.282

Pulmonary Atresia

DI 23022.585

Pulmonary Kaposi Sarcoma

DI 23022.655

Refractory Hodgkin Lymphoma

DI 23022.283

Renal Amyloidosis - AL Type

DI 23022.878

Renpenning Syndrome

DI 23022.284

Retinopathy of Prematurity - Stage V

DI 23022.979

Rett (RTT) Syndrome

DI 23022.285

Revesez Syndrome

DI 23022.286

Rhabdomyosarcoma

DI 23022.880

Rhizomelic Chondrodysplasia Punctata

DI 23022.885

Richter Syndrome

DI 23022.887

Roberts Syndrome

DI 23022.981

Rubinstein-Taybi Syndrome

DI 23022.287

Salivary Tumors

DI 23022.290

Sandhoff Disease

DI 23022.295

Sarcomatoid Mesothelioma

DI 23022.587

Schindler Disease -- Type I

DI 23022.890

SCN8A-related Epilepsy with Encephalopathy

DI 23022.496

Seckel Syndrome

DI 23022.296

Secondary Adenocarcinoma of the Brain

DI 23022.298

Severe Combined Immunodeficiency - Childhood

DI 23022.983

Single Ventricle

DI 23022.590

Sinonasal Cancer

DI 23022.985

Sjogren-Larsson Syndrome

DI 23022.297

Skin Malignant Melanoma—with metastases

DI 23022.810

Small-Cell Cancer of the Large Intestine

DI 23022.300

Small-Cell Cancer of the Ovary

DI 23022.305

Small-Cell Cancer of the Prostate

DI 23022.310

Small-Cell Cancer of the Thymus

DI 23022.311

Small-Cell Cancer of the Uterus

DI 23022.315

Small-Cell Lung Cancer

DI 23022.320

Small Intestine Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.325

Smith Lemli Opitz Syndrome

DI 23022.895

Soft Tissue Sarcoma – with distant metastases or recurrent

DI 23022.326

Spinal Muscular Atrophy (SMA) -- Types 0 and 1

DI 23022.330

Spinal Nerve Root Cancer -- metastatic or recurrent

DI 23022.900

Spinocerebellar Ataxia

DI 23022.500

Stiff Person Syndrome

DI 23022.905

Stomach Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.335

Subacute Sclerosing Panencephalitis

DI 23022.505

Superficial Siderosis of the Central Nervous System

DI 23022.337

SYNGAP1-related NSID

DI 23022.238

Tabes Dorsalis

DI 23022.910

Tay Sachs Disease

DI 23022.510

Taybi-Linder Syndrome

DI 23022.341

Tetrasomy 18p

DI 23022.343

Thanatophoric Dysplasia, Type 1

DI 23022.515

The ALS/Parkinsonism Dementia Complex

DI 23022.660

Thyroid Cancer

DI 23022.340

Transplant Coronary Artery Vasculopathy

DI 23022.987

Tricuspid Atresia

DI 23022.595

Ullrich Congenital Muscular Dystrophy

DI 23022.520

Ureter Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.345

Usher Syndrome - Type I

DI 23022.989

Ventricular Assist Device Recipient

DI 23022.570

Walker Warburg Syndrome

DI 23022.525

Wolf-Hirschhorn Syndrome

DI 23022.915

Wolman Disease

DI 23022.530

Xeroderma Pigmentosum

DI 23022.920

X-Linked Lymphoproliferative Disease

DI 23022.346

X-Linked Myotubular Myopathy

DI 23022.347

Zellweger Syndrome

DI 23022.535

 

DI 23022.117 Blastic Plasmacytoid Dendritic Cell Neoplasm

COMPASSIONATE ALLOWANCES INFORMATION

BLASTIC PLASMACYTOID DENDRITIC CELL NEOPLASM

ALTERNATE NAMES

BPDCN; Blastic plasmacytoid dendritic cell neoplasm; CD4+/CD56+ hematodermic neoplasm; Lymphoblastoid variant of NK-cell lymphoma; Blastic NK-cell lymphoma; Monomorphic NK-cell lymphoma

DESCRIPTION

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) previously known as natural killer (NK) cell leukemia/lymphoma is a rare, clinically aggressive hematologic malignancy that most commonly manifests as cutaneous lesions with or without bone marrow involvement and leukemic dissemination.

Common misdiagnoses for BPDCN include non-Hodgkin lymphoma (NHL), acute myeloid leukemia (AML), leukemia cutis (a nonspecific term used for cutaneous [skin] manifestation of any type of leukemia), melanoma (a type of skin cancer), and lupus erythematosus (chronic inflammatory disease that occurs when your body's immune system attacks your own tissues and organs).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis of BPDCN is difficult and the condition is often misdiagnosed.

  • A history and physical exam;

  • Skin biopsy showing infiltration of medium-sized (i.e., immature) blast cells into the dermis; and

  • Bone marrow biopsy.

Physical findings: Individuals with BPDCN may present with:

  • Skin lesions (nodules, tumors, red or purple papules, bruise-like patches, and/or ulcers);

  • Swollen lymph nodes;

  • Hepatomegaly (enlarged liver);

  • Splenomegaly (enlarged spleen);

  • Anemia (decreased red blood cells);

  • Thrombocytopenia (abnormally low platelet level); and

  • Leukopenia (decreased white blood cells).

ICD-9: 202.9

ICD-10: C86.4

PROGRESSION

The skin is the most frequently involved site of disease. However, BPDCN usually progresses with bone marrow involvement and a decrease in red blood cell, white blood cell and platelet counts. The lymph nodes and spleen may also be involved. Rashes without symptoms can also occur.

Due to the high rates of recurrence following initial therapy and the short overall survival times of individuals with BPDCN, prognosis of the disease is poor.

The average age at diagnosis is 60 to 70 years.

TREATMENT

Treatment sometimes includes therapies that are used for AML, acute lymphoblastic leukemia (ALL), or lymphoma.

The length for which a patient responds to these treatments is usually short. After a relapse, second remissions with conventional chemotherapy are difficult to achieve. Allogeneic hematopoietic stem cell transplant (allo-HCT), especially if offered in first remission, may result in longer remissions. The current recommendation is for BPDCN patients to be evaluated for an allo-HCT as soon as possible and to begin searching for a donor.

Other treatment regimens that include intrathecal chemotherapy and hematological stem cell transplantation in initial treatment regimens and newer non-chemotherapeutic drug treatments may improve this situation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Skin biopsy showing infiltration of medium-sized (i.e. immature) blast cells into the dermis; and

  • Bone marrow biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

Equals

13.06 A

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested evaluating the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.357 Angioimmunoblastic T-Cell Lymphoma

COMPASSIONATE ALLOWANCES INFORMATION

ANGIOIMMUNOBLASTIC T-CELL LYMPHOMA

ALTERNATE NAMES

AILD; AITL; Angioimmunoblastic Lymphadenopathy with Dysproteinemia; Immunoblastic Lymphadenopathy; Lymphogranulomatosis
DESCRIPTION

Angioimmunoblastic T-Cell Lymphoma (AITL) is a rare and highly aggressive cancer of the lymphatic system. AITL spreads throughout the body by converting T-cell lymphocytes (immune cells that dispose of bacteria and viruses) into malignant cells.

AITL is unique among non-Hodgkin lymphomas for its disabling effect on the immune system; the symptoms that arise from the dysfunctional immune response are often more severe than those caused by the tumor itself.

The cause of AITL is poorly understood, although there appears to be a correlation with Epstein-Barr virus infection.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Blood chemistry analysis;

  • Biopsy of lymph nodes and bone marrow;

  • Computed tomography (CT) scan;

  • Positron emission tomography (PET) scan; and

Physical findings: Symptoms of AITL include:

  • Fever;

  • Weight loss;

  • Excessive sweating, especially at night;

  • Swollen lymph nodes;

  • Skin rash, with or without itching; and

  • Fatigue.

ICD-9: 202.7

ICD-10: C86.5

PROGRESSION

Although many patients with AITL will achieve remission with the initial course of treatment, most will relapse. Median survival is 2-3 years from initial diagnosis.

TREATMENT

Bone marrow transplant has shown to lead to more positive outcomes in patients with AITL than standard radiation and chemotherapy regimens. Corticosteroids are used to control symptoms related to immune dysfunction.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features of the impairment;

  • Imaging tests;

  • Biopsy analysis;

  • Pathology and surgery reports; and

  • Treatment records.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.05 D

AITL equals 13.05 D even when bone marrow transplant surgery is performed.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.403 Gerstmann-Straussler-Scheinker Disease

COMPASSIONATE ALLOWANCES INFORMATION

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE

ALTERNATE NAMES

Amyloidosis Cerebral with Spongiform Encephalopathy; Cerebellar Ataxia Progressive Dementia and Amyloid Deposits in the Central Nervous System; Cerebellar Ataxia Progressive Dementia and Amyloid Deposits in the CNS; Gerstmann Straussler Scheinker Syndrome; GSS Syndrome; GSS Disease; Subacute Spongiform Encephalopathy, Gerstmann Straussler Type

DESCRIPTION

Gerstmann-Straussler-Scheinker Disease (GSS) is an extremely rare neurodegenerative brain disorder. It is almost always inherited (autosomal dominant) and is found in only a few families around the world. Onset of the disease usually occurs between the ages of 35 and 50.

GSS is caused by mutations in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. In people with GSS, mutations in the PRNP gene typically result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons (nerve cells). This loss of brain cells leads to the signs and symptoms of GSS.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Gerstmann-Straussler-Scheinker Disease is based on a combination of the following:

  • Observation of the characteristic physical signs and symptoms;

  • Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease);

  • A family history consistent with autosomal dominant inheritance; and

  • Genetic test showing a disease-causing mutation of the PRNP gene (establishes and confirms the diagnosis).

Physical findings: The physical findings of GSS may include:

  • Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking;

  • Cognitive dysfunction leading to bradyphrenia (slowness of thought processing) and dementia of different degrees;

  • Dysarthria (slurred speech);

  • Nystagmus (abnormal eye movements);

  • Spasticity (rigid muscle tone);

  • Visual disturbances, sometimes leading to blindness;

  • Deafness; and

  • Parkinsonian features.

ICD-9: 046.71

ICD-10: A81.8; A81.82

PROGRESSION

The signs and symptoms of GSS disease generally develop between the ages of 35 and 50 years. GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow.

TREATMENT

The treatment of GSS is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Full neurological examination with emphasis on motor function and coordination, gait and balance, eye movements and gaze, and cognitive function; and

  • Genetic testing for mutations of the PRNP gene

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.453 Microvillus Inclusion Disease – Child

COMPASSIONATE ALLOWANCES INFORMATION

MICROVILLUS INCLUSION DISEASE

ALTERNATE NAMES

Congenital Enteropathy; Congenital Familial Protracted Diarrhea; Congenital Microvillus Atrophy; Davidson’s Disease; Familial Protracted Enteropathy; Microvillus Familial Enteropathy; Microvillus Atrophy; Microvillous Inclusion Disease; MVID

DESCRIPTION

Microvillus Inclusion Disease (MVID) is a rare congenital intestinal disorder that primarily affects newborns. MVID manifests in the first hours or days of life with chronic watery diarrhea that increases in frequency with food intake, causing malnutrition and dehydration. Fewer than 100 cases have been documented.

MVID is caused by a mutation in the Myo5b gene and follows an autosomal recessive inheritance pattern. The Myo5b gene regulates proteins in the epithelial lining of the intestines. In infants with MVID, this gene is non-functional; as a result, intestinal microvilli, structures which aid in the absorption of nutrients, are deformed or entirely absent.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A diagnosis of MVID can be confirmed through electronic microscope observation of an intestinal tissue sample, or through genetic testing. Other conditions such as lactose intolerance and familial chloride diarrhea must be ruled out before performing a biopsy.

Physical findings: Symptoms of MVID include:

  • Chronic, watery stool;

  • Dehydration;

  • Abdominal bloating;

  • Itching; and

  • Developmental delay.

ICD-9: 751.5

ICD-10: P78.3; Q43.8

PROGRESSION

MVID typically leads to developmental delay, failure to thrive, irreversible damage to the liver and kidneys, and often results in death in infancy. Most children with MVID do not survive past early childhood.

TREATMENT

There is no cure for MVID. Parenteral (intravenous) nutrition is the most common form of treatment, but it is not a viable long-term option due to risk of infection and organ damage.

Intestine transplantation has more favorable outcomes. However, donor organs are not widely available and lifelong treatment is necessary even with a successful transplant.

Other treatment is symptomatic and supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Electron microscopic analysis of intestinal tissue sample; and

  • Results of molecular genetic testing for mutation of Myo5b

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

105.08

105.10

 

Equals

105.07

105.09

Requirement for parenteral feeding equals listing.

Small intestine transplantation, if performed, equals listing.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.457 Mowat-Wilson Syndrome

COMPASSIONATE ALLOWANCES INFORMATION

MOWAT-WILSON SYNDROME

ALTERNATE NAMES

Hirschsprung Disease-Intellectual Disability Syndrome; Mowat-Wilson Disease; MWS

DESCRIPTION

Mowat-Wilson Syndrome (MWS) is a rare genetic disorder that affects several organs and body systems. Primary symptoms of MWS include severe intellectual impairment, microcephaly, seizures, heart defects, and distinctive facial features. In about half of cases, co-occurs with Hirschsprung Disease, a condition in which the intestines fail to develop properly.

MWS is caused by defects in the ZEB2 gene, which is critical to the development of the nervous system, heart, and other organs and tissues.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: An initial diagnosis of MWS is made through observation of the associated physical characteristics and can be confirmed through gene-targeted or comprehensive genomic testing demonstrating dysfunction or complete absence of the ZEB2 gene.

Physical findings:

  • Distinctive facial features, including broad, deep-set eyes and prominent, pointed chin;

  • Small head (microcephaly);

  • Short stature;

  • Delayed physical and intellectual development;

  • Seizures;

  • Absent or severely limited speech; and

  • Deformities of the genitals and urinary tract.

ICD-9: 756.0

ICD-10: Q87.0; Q43.1

PROGRESSION

Symptoms of MWS may present at any time from birth through early adolescence. Early mortality is common, but some people with MWS have survived into early adulthood.

TREATMENT

There is no cure for MWS. Treatment is symptom-specific and supportive. Surgery is often required to improve function of the heart and intestines.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination reports that describe the diagnostic features of the impairment; and

  • Laboratory tests confirming mutation or absence of the ZEB2 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

112.05

112.14

 

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.463 Myelodysplastic Syndrome with Excess Blasts

 

COMPASSIONATE ALLOWANCES INFORMATION

MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS

ALTERNATE NAMES

Refractory anemia with excess blasts; RAEB; MDS with excess blasts; MDS-EB1; MDS-EB2

DESCRIPTION

Myelodysplastic Syndrome with Excess Blasts (MDS-EB) is a rare type of myelodysplastic syndrome (MDS). In this MDS-EB, the number of very early forms of blood cells (blasts) are increased in the bone marrow and/or blood. There is also a low number of at least one type of blood cell. The early forms of cell types in the bone marrow (red blood cells, white blood cells, or platelets) may or may not look abnormal (dysplasia) under the microscope.

MDS-EB has a high likelihood of turning into acute myeloid leukemia (AML). It is classified into two types, based on how many of the cells in the bone marrow or blood are blasts:

  • MDS-EB1: Blasts make up 5% to 9% of the cells in the bone marrow, or 2% to 4% of the cells in the blood.

  • MDS-EB2: Blasts make up 10% to 19% of the cells in the bone marrow, or 5% to 19% of the cells in the blood; this type has a higher risk to become AML.

Some cases of MDS-EB are linked to known risk factors (such as smoking, chemotherapy, having a genetic syndrome that increases the chance of developing MDS). These factors lead to changes in the DNA in bone marrow cells which may cause MDS-EB to develop, but most often, the cause is unknown.

MDS affects males slightly more often than females. The disorder occurs in all age groups, but is far more common in older adults, occurring most often in individuals over 60 years of age. According to one estimate, 22 to 45 per 100,000 people over the age of 70 years have MDS. Approximately 20,000 new patients are diagnosed each year in the United States.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of MDS-EB is made by:

  • A history and physical examination;

  • Complete blood count (CBC);

  • Examination of blood smear and bone marrow aspiration; and

  • Genetic testing.

Physical findings: Individuals with MDS-EB may present with:

  • Refractory anemia;

  • Constant fatigue;

  • Shortness of breath;

  • Pallor or unusual paleness;

  • Easy bruising and/or bleeding;

  • Petechiae or pinpoint-sized red spots beneath the skin;

  • Frequent infections;

  • Neutropenia (low white blood cell levels);

  • Thrombocytopenia (low platelet levels).

Other signs and symptoms of MDS-EB may include:

  • Firm cervical masses, which are highly suggestive of regional lymph node metastasis; or

  • Vocal fold paralysis, which implies involvement of the recurrent laryngeal nerve.

ICD-9: 238.73

ICD-10: D46.2; D46.9

PROGRESSION

Although the actual number varies within medical literature, most state that between 5-29 percent of cases of MDS-EB deteriorates into AML. The transition to leukemia is accompanied by worsening marrow function and the accumulation, first in the marrow and subsequently in the blood, of undeveloped immature cells called blasts which have no useful function and suppress any remaining marrow cell production. As a consequence, the complications from anemia, bleeding, and infection become life-threatening.

Survival for MDS-EB is short with median survival less than 2 years.

TREATMENT

Treatment of MDS with excess blasts may include blood transfusions, supportive care, chemotherapy, radiotherapy, and bone marrow transplant.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Complete blood count (CBC) results;

  • Biopsy; and

  • Genetic testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.06 A

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested evaluating the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.477 NUT Carcinoma

 

COMPASSIONATE ALLOWANCES INFORMATION

NUT CARCINOMA

ALTERNATE NAMES

NUT Midline Carcinoma; Nuclear Protein Testis Carcinoma

DESCRIPTION

NUT Carcinoma, formerly known as NUT Midline Carcinoma, is a rare type of cancer that forms in the respiratory tract and other places along the middle of the body, from the head to the abdomen. This includes the thymus, the area between the lungs, and the pancreas, liver, and bladder.

NUT Carcinoma is caused when a piece of chromosome 15 containing the NUT gene breaks off and attaches to another chromosome. It is usually aggressive (fast-growing) and cannot be cured. NUT is caused by a fusion of the BRD4, BRD3, NSD3, or other genes. This gene fusion causes the abnormal uncontrolled squamous cell growth.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9/ICD-10-CM CODING

Diagnostic testing: The diagnosis of NUT Carcinoma is made by:

  • Immunohistochemistry testing;

  • Fluorescence in situ hybridization (FISH);

  • Imaging scans such as CT, MRI, and PET;

  • Biopsy; and

  • Genetic sequencing.

Physical findings: The physical findings of NUT Carcinoma depend on where the cancer is growing in the body. Some general symptoms are:

  • Pain;

  • Unintentional weight loss;

  • Fatigue;

  • Cough; and

  • Shortness of breath.

ICD-9: 186.9

ICD-10: C80.9

PROGRESSION

NUT Carcinoma is a rare and aggressive tumor that has primarily been reported in children and young adults. NUT arises from many organs, mainly midline organs such as the head, neck, and thorax, and usually has widespread metastases at the time of diagnosis. Most patients have advanced stages of the disease and progress rapidly to death. The average length of survival is approximately 10 months. The 2-year survival rate is 30%.

TREATMENT

NUT Carcinoma is very resistant to standard chemotherapy treatments. The tumor may initially respond to therapy, and then rapid recurrence is experienced. A multimodal approach to treatment is utilized since most patients present with advanced disease. If the cancer is localized and not yet metastasized, surgical resection may be curative. Radiation and chemotherapy have limited effectiveness.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging reports such as CT scan or MRI scan;

  • Operative reports; and

  • Pathology/biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.02 D

13.14 B

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.481 Pfeiffer Syndrome - Types II and III

 

COMPASSIONATE ALLOWANCES INFORMATION

PFEIFFER SYNDROME - TYPES II AND III

ALTERNATE NAMES

Acrocephalosyndactyly, type V; ACSV Syndrome; Craniofacial-Skeletal-Dermatologic Dysplasia; Noack Syndrome; Pfeiffer Type Acrocephalosyndactyly

DESCRIPTION

Pfeiffer Syndrome is a rare genetic condition of early childhood in which the bones, primarily in the skull, fuse prematurely.

There are three subtypes of Pfeiffer Syndrome. In Types II and III, fusion of skull bones prevents normal brain growth, resulting in severe intellectual and neurological impairment. Pfeiffer Syndrome Type I is significantly milder, and usually does not affect intellectual development or lifespan.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING/ICD-10-CM CODING

Diagnostic testing: Clinical diagnosis is based on presence of the physical characteristics distinct to Pfeiffer Syndrome and can be confirmed through molecular genetic testing showing mutation of the FGFR2 gene.

Physical findings: Symptoms of Pfeiffer Syndrome Types II and III include:

  • Elongated skull structure (craniosynostosis);

  • Tri-lobed "cloverleaf" shaped skull (Type II only);

  • Facial asymmetry;

  • High, broad forehead;

  • Bulging, wide-set eyes;

  • Beak-shaped nose;

  • Low-set ears;

  • Underdeveloped jaw;

  • Broad thumbs; and

  • Joint immobility.

ICD-9: 755.55

ICD-10: Q87.0

PROGRESSION

The outlook for children with Pfeiffer Syndrome Types II and III is generally poor. Even with treatment, early mortality is common due to breathing problems caused by malformation of the skull.

TREATMENT

There is no cure for Pfeiffer Syndrome. Treatment is symptomatic and supportive.

Surgical intervention in early infancy to correct the shape of the skull, along with physical therapy, can improve long-term outcomes and quality of life. However, all individuals with Pfeiffer Syndrome Types II and III require lifelong treatment and assistance with activities of daily living.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes that diagnostic features of the impairment; and

  • Laboratory tests confirming mutation of the FGFR2 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A & B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.482 Pontocerebellar Hypoplasia

 

COMPASSIONATE ALLOWANCES INFORMATION

PONTOCEREBELLAR HYPOPLASIA

ALTERNATE NAMES

Arginyl-Trna Synthetase; Cerebellar Atrophy with Progressive Microcephaly; CLAM; Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hyperplasia; Fetal-Onset Olivopontocerebellar Hypoplasia; Olivopontocerebellar Hypoplasia, Fetal-Onset; PCH With Optic Atrophy; Pontocerebellar Hypoplasia with Anterior Horn Cell Disease; Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy; Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy; RARS; Volendam Neurodegenerative Disease; Congenital Pontocerebellar Hypoplasia

DESCRIPTION

Pontocerebellar Hypoplasia (PCH) is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.

PCH also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.

PCH can result from mutations in several genes. About half of all cases of PCH1 are caused by mutations in the EXOSC3 gene. PCH1 can also result from mutations in several other genes, including TSEN54 , RARS2 , and VRK1 . PCH2 is caused by mutations in the TSEN54 , TSEN2 , TSEN34 , or SEPSECS gene. caused by mutations in other genes. In some cases, the genetic cause of PCH is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of PCH is made by:

  • A history and physical exam;

  • Genetic testing (only available for certain types);

  • Magnetic resonance imaging (MRI) of the brain and spinal cord;

  • Computed tomography (CT) scan of the brain;

  • Serial ultrasound scans;

  • Nerve conduction studies;

  • Electroencephalograph (EEG) scan; and

  • Muscle, skin, and nerve biopsy (in types with known genetic mutations.

Physical findings: Signs and symptoms for PCH vary depending on the type. The signs and symptoms that are consistent for all types of PCH are:

  • Abnormally small cerebellum and brain stem;

  • Psychomotor retardation;

  • Problems with movement; and

  • Severe to profound intellectual disability.

  • Other signs and symptoms of PCH may include:

  • Microcephaly;

  • Encephalopathy;

  • Joint contractures;

  • Severe muscle weakness;

  • Nystagmus (uncontrolled eye movements);

  • Ataxia (lack of muscle control or coordination of voluntary movements);

  • Dystonia (involuntary repetitive or twisting movements;

  • Seizures;

  • Hypotonia (poor muscle tone);

  • Hypertonia (too much muscle tone); and

  • Visual impairment.

ICD-9: 742.2

ICD-10: Q04.3

PROGRESSION

Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases, they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.

The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare

TREATMENT

There is no known cure for PCH. Treatment of PCH is symptomatic and supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Genetic testing (only available for certain types);

  • MRI of the brain and spinal cord;

  • CT scan of the brain;

  • Serial ultrasound scans;

  • Nerve conduction studies;

  • EEG; or

  • Muscle, skin, and nerve biopsy (in types with known genetic mutations).

 

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

111.08 A or B

111.22 A

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested evaluating the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.587 Sarcomatoid Mesothelioma

COMPASSIONATE ALLOWANCES INFORMATION

SARCOMATOID MESOTHELIOMA

ALTERNATE NAMES

Carcinosarcoma of the Lung; Fibrous Mesothelioma; Sarcomatous Mesothelioma; Lung Sarcomatoid Cancer; Pulmonary Carcinosarcoma; Pulmonary Sarcomatoid Cancer; Sarcomatoid Cancer of the Lung; Spindle Cell Mesothelioma; Spindle Malignant Fibrous Mesothelioma Spindled Mesothelioma

DESCRIPTION

Sarcomatoid Mesothelioma is a rare cell type of cancer caused by asbestos exposure. This condition is a mixed disease with both sarcomatous (affecting connective tissue) and epithelial (related to cells that line the organs) elements. Sarcomatoid cells are recognized by their oval or spindle-like shape.

Sarcomatoid Mesothelioma occurs in multiple organ settings, including the uterus, kidneys, lungs, and peritoneum. It accounts for between 10 and 20 percent of all mesothelioma diagnoses.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9/ICD-10-CM CODING

Diagnostic testing: Diagnosis of Sarcomatoid Mesothelioma is difficult because the patient presents with symptoms that are the same as other more common illnesses. Most patients begin the process of diagnosis when they seek medical help for shortness of breath or chest pain.

The diagnosis of Sarcomatoid Mesothelioma is made by:

  • Chest x-ray;

  • Computed tomography (CT) scan;

  • Echocardiogram;

  • Positron emission tomography (PET) scan;

  • Magnetic resonance imaging (MRI);

  • Blood tests; and

  • Tissue biopsy.

Physical findings: Symptoms of Sarcomatoid Mesothelioma may include:

  • Pain in the chest, back, shoulders, and ribs;

  • Coughing;

  • Shortness of breath;

  • Decreased appetite;

  • Fatigue and muscle weakness;

  • Nausea and vomiting;

  • Blood in feces, vomit, or sputum; and

  • Weight loss.

ICD-9: 163.9

ICD-10: C45.9

PROGRESSION

Sarcomatoid Mesothelioma forms in separate nodes or lesions and can metastasize, or spread, quickly to distant organs. Sarcomatoid carcinomas of the lung have poor prognosis and are aggressive cancers. Small early (stage I) carcinosarcoma can have a cure rate of 50% or more if fully resected. More advanced local cancers or metastatic carcinosarcoma have rapid growth and poor response. Stage II-IV tumors have a much less favorable prognosis, with survival of only 2-3 years. Median survival for Stage IV metastatic carcinosarcoma is less than 1 year.

TREATMENT

There is no standard treatment for Sarcomatoid Mesothelioma. Sarcomatoid Mesothelioma is one of the most difficult types of mesothelioma to treat. The type of treatment depends on the stage and location of the cancer, and the overall health of the patient. Treatment options may include chemotherapy, which is often used as the first choice of treatment because it is fast-acting, and can be effective in slowing or stopping progression of the cancer; radiation, which is often used as a palliative treatment to shrink the mesothelioma cells; and surgery, which is used to treat patients that present with the disease in just a few places within the body.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy reports; and

  • Imaging reports (e.g. chest x-rays, CT scan, PET scan, or MRI scan)

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.15 A

Sarcomatoid mesothelioma meets listing 13.15 A if the cancer is in the pleura.

Equals

13.15 A

Sarcomatoid mesothelioma equals listing 13.15 A if the cancer is not in the pleura.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.643 Posterior Cortical Atrophy

 

COMPASSIONATE ALLOWANCES INFORMATION

POSTERIOR CORTICAL ATROPHY

ALTERNATE NAMES

PCA; Benson’s Syndrome; Biparietal Alzheimer Disease; Primary Visual Agnosia; Visual Variant of Alzheimer’s Disease; VVAD

DESCRIPTION

Posterior Cortical Atrophy (PCA) is a rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages. PCA causes atrophy of the posterior part of the cerebral cortex, resulting in the progressive disruption of complex visual processing. This rare form of dementia is considered a visual variant or an atypical variant of Alzheimer’s disease (AD).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The cause of PCA is unknown, and there are no fully accepted diagnostic criteria for the disease. This is partially due to the gradual onset of PCA symptoms, their variety, the rare nature of the disease, and the younger age of onset.

The following may assist with diagnosis:

  • A history and physical exam;

  • Neuroimaging (MRI, CAT scan) showing atrophy affecting occipital, parietal, and posterior temporal lobes bilaterally, many with more severe change on the right; and

  • Careful observation in relation to PCA symptoms.

Physical findings: Individuals with PCA may present with:

  • Difficulty reading;

  • Blurred vision;

  • Light sensitivity;

  • Issues with depth perception;

  • Trouble navigating through space;

  • Apraxia (disorder of movement planning);

  • Alexia (impaired ability to read);

  • Visual hallucinations;

  • Dementia;

  • Anxiety; and

  • Depression.

ICD-9: 377.7

ICD-10: R48.3

PROGESSION

PCA usually affects people at an earlier age than typical cases of Alzheimer's disease, with initial symptoms often experienced in people in their mid-50s or early 60s.

TREATMENT

Specific and accepted treatment for PCA has yet to be discovered; this may be due to the rarity and variations of the disease. At times people with PCA are treated with AD treatments such as, cholinesterase inhibitors, donepezil, rivastigmine, galantamine, and memantine. Antidepressant drugs have also provided some positive effects.

Other treatments such as occupational therapy or help with adapting to visual changes may help.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Neuroimaging.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested evaluating the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.878 Renal Amyloidosis – AL Type

 

COMPASSIONATE ALLOWANCES INFORMATION

RENAL AMYLOIDOSIS - AL TYPE

ALTERNATE NAMES

Amyloidosis Associated Kidney Disease; Kidney Amyloidosis; Kidney Amyloidosis AL Type; Renal Amyloidosis; Renal AL Amyloidosis

DESCRIPTION

Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. Amyloid proteins are abnormal proteins that the body cannot break down and recycle, as it does with normal proteins. When amyloid proteins clump together, they form amyloid deposits. The buildup of these deposits damages a person’s organs and tissues. The kidneys are the organs most commonly affected by primary amyloidosis.

In Renal Amyloidosis, amyloid deposits damage the kidneys and make it harder for them to filter wastes and break down proteins. When the kidneys become too damaged, they may no longer be able to function well enough to maintain health, resulting in kidney failure. Kidney failure can lead to problems such as high blood pressure, bone disease, and anemia.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9/ICD-10-CM CODING

Diagnostic testing: The diagnosis of renal amyloidosis is made by:

  • Medical and family history;

  • Physical exam;

  • Urinalysis;

  • Blood tests; and

  • Kidney biopsy

Physical findings: The physical findings include:

  • Albuminuria (increased amount of albumin, a protein, in the urine);

  • Hyperlipidemia (blood has more-than-normal amounts of fats and cholesterol);

  • Edema (swelling of the legs, feet, or ankles and less often the hands or face); and

  • Hypoalbuminemia (less-than-normal amounts of albumin).

Other signs and symptoms of primary amyloidosis may include:

  • Fatigue or feeling tired;

  • Shortness of breath;

  • Low blood pressure;

  • Numbness, tingling, or a burning sensation in the hands or feet; and

  • Unintentional weight loss.

ICD-9: 277.3, 277.39

ICD-10: E85.4

PROGRESSION

Amyloidosis that affects the kidneys leads to life-threatening kidney failure and end-stage renal disease. AL-Amyloidosis has very poor prognosis with most patients dying in 2-3 years from diagnosis.

TREATMENT

AL Amyloidosis is difficult to treat, and treatment is generally only marginally effective. Treatment may consist of medication therapy, chemotherapy, and stem cell transplant. Chemotherapy and bone marrow (stem cell) transplant tend to be the most effective therapies.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of renal involvement;

  • Neuroimaging; and

  • Tissue biopsy

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

6.05 A

14.03

14.07 B

Only the conditions of 6.05 A must be met.

Use listing 14.07 B when a stem cell or bone marrow transplant has been completed.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested evaluating the claim. However, the decision to allow or deny the claim rests with the adjudicator.


DI 23022 TN 53 - Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS) - 8/15/2022