PROGRAM OPERATIONS MANUAL SYSTEMPart DI – Disability InsuranceChapter 230 – Special IssuesSubchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)Transmittal No. 41, 10/20/2020
This is a Quick Action Transmittal. These revisions do not change or introduce new policy or procedure.
Summary of Changes
DI 23022.390 Edwards Syndrome (Trisomy 18)
Updated table style;
Added "ICD-10-CM" to section heading;
Added ICD-10 information
Switched location of "Progression" and "Treatment" sections
DI 23022.830 Myoclonic Epilepsy with Ragged Red Fibers Syndrome
Adjusted spacing in "Diagnostic testing" and "Physical findings" sections
DI 23022.937 Child Lymphoblastic Lymphoma
Added ICD-10 information;
Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings"
DI 23022.947 Erdheim Chester Disease
Trisomy 18; Chromosome 18; Trisomy 18 Complete; Complete Trisomy 18 Syndrome; Trisomy E Syndrome
Edwards syndrome is a genetic disorder in which a person has an extra third copy (trisomy) of genetic material from chromosome 18, instead of the usual two copies. This chromosomal condition causes severe intellectual disability and congenital abnormalities. It severely affects all organ systems of the body. Children born with Edwards syndrome often have intellectual disability and delayed development, congenital heart disease, seizures, and physical malformations. Associated conditions may include heart defects such as ventricular septal defect and malformations of the digestive tract, urinary tract, and genitals. Due to the presence of several life-threatening medical problems, many infants die within their first month. This disorder is a relatively common syndrome affecting approximately 1 out of 3,000 live births. It is three times more common in girls than boys.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Diagnostic testing : The diagnosis of Edwards syndrome is made by genetic testing of the amniotic fluid; Ultrasounds of the heart and abdomen; and x-rays of the skeletal system.
Physical findings: Individuals with Edwards syndrome are characterized by:
Small head size;
Small wide-set eyes;
Small lower jaw;
Clenched hands with second and fifth fingers on top of the others;
Other defects of the hands and feet;
Underdeveloped finger nails; and
A shortened breastbone.
ICD-9 : 758.2
Suggested MER for Evaluation:
Clinical history and examination that describes the diagnostic features of the impairment; and
Laboratory tests showing results of chorionic villus sampling (CVS).
Suggested Listings for Evaluation:
COMPASSIONATE ALLOWANCE INFORMATION
MERRF; Myoclonus with Epilepsy with Ragged Red Fibers; MERRF Syndrome; Myoencephalopathy Ragged Red Fiber Disease; Fukuhara syndrome; Myoclonic epilepsy associated with ragged red fibers; Myoencephalopathy ragged-red fiber disease
Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a rare inherited neurometabolic disorder that affects the central nervous system, skeletal muscles, and other body systems. Characteristic abnormal muscle cells appear as ragged red fibers when stained and viewed under a microscope.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
Diagnostic testing :
Muscle biopsy with pathology report documenting structurally abnormal mitochondria;
CT/MRI for cerebral atrophy;
EEG for seizure activity;
Blood serum testing for elevated lactate levels; and
Hearing and vision testing.
Neurological dysfunction including cerebellar ataxia;
Myoclonic seizures (brief, sudden twitching muscle spasms);
Muscle atrophy with muscle weakness;
Optic atrophy; and
Signs and symptoms of this disorder mostly appear during childhood or adolescence, although sometimes after age 20. Clinical course is variable, from slowly progressive to rapidly downhill.
There is no current cure for MERRF and treatment is supportive. Medications may be prescribed for seizures and to control muscle movement. Physical therapy and occupational therapy can be used to extend the range of muscle movement and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine may provide subjective improvement in fatigue and energy levels in some individuals.
Suggested MER for Evaluation:
Clinical history and examination that describes the diagnostic features of the impairment, and physical and cognitive findings;
Muscle biopsy showing the presence of ragged red fibers;
Imaging studies such as CT or MRI; and
EEG results, vision or hearing testing may be helpful.
* 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.
CHILD LYMPHOBLASTIC LYMPHOMA
Child Lymphoblastic Lymphoma is a type of non-Hodgkin lymphoma of the lymphatic system. Child lymphoblastic lymphoma is similar in etiology to acute lymphoblastic leukemia because lymphoblasts infiltrate nodal structures of the bone marrow, spleen, and central nervous system. A difference in this disease is that the tumor may present as a lump in some part of the body, with the most common location being in the abdomen. Occasionally, it may present as a lump in a lymph gland, bone, skin, thyroid gland, or the tonsils.
testing: Diagnostic testing for child lymphoblastic lymphoma may include:
Blood and urine tests;
Fine needle aspiration biopsy;
Bone marrow aspiration and biopsy; and
Imaging such as ultrasound, MRI, CT scan and PET scan.
Physical findings: Signs and symptoms of childhood lymphoblastic lymphoma may be different depending on the location of the tumors. Common symptoms may include:
High fever for no known cause;
Weight loss of more than 10% of body weight in a short period of time (within 6 months);
Enlarged liver and kidney;
Painless swelling of the lymph nodes in the neck, underarm, stomach or groin;
The childhood form of lymphoblastic lymphoma is a disease of rapid onset and progression. In most cases, the disease has progressed to an advanced stage (stage III or IV) by the time of diagnosis. The prognosis depends on histology (structure of the affected tissue); extent of the disease; presence or absence of metastasis; the child’s age; and response to therapy.
Children with lymphoblastic lymphoma are treated with chemotherapy and radiation, usually following acute leukemia treatment protocols. Chemotherapy often includes intrathecal therapy (injection of chemotherapy into the spinal canal). Radioimmunotherapy is being researched as a possible treatment option.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Clinical history and examination that describes diagnostic features of the disorder and laboratory findings are needed to confirm the diagnosis;
Pediatric oncology consultation reports;
Biopsy reports; and
Suggested Listings for Evaluation:
Must meet listing level severity.
ERDHEIM CHESTER DISEASE
Erdheim Chester Syndrome; Lipoid Granulomatosis; Non-Langerhans Cell Histiocytosis; Polyostotic Sclerosing Histiocytosis
Erdheim Chester Disease (ECD) is a rare type of histiocytosis disease that involves an excessive production and accumulation of a certain type of white blood cells (histiocytes) in many different organs of the body. These cells normally are responsible for responding to infection and injury. In ECD, these cells infiltrate the bones (long bones), eyes, pituitary gland and various organ systems (pulmonary, cardiovascular, renal, skin, and central nervous system) causing these tissues and organs to become thickened, dense, and fibrotic. Without treatment, organ failure can occur. Many ECD patients carry gene mutations linked to blood and other cancers. National Institutes of Health researchers have concluded ECD is a type of cancer and should be treated by oncologists.
X-rays, CT scans, MRIs, and bone scans indicating abnormal thickening, masses, or lesions;
Bronchoscopy with biopsy;
Biopsy of tissue; and
Pulmonary function tests to provide information on clinical severity
Physical findings : Symptoms and signs depend on specific organ involvement. Symptoms of ECD may include:
Bone pain in the long bones of the arms and legs;
Muscle and joint aches, weakness and fatigue;
Soft tissue masses or lesions on the body;
Bulging eyes due to a mass behind the eye;
Shortness of breath;
Interstitial lung disease;
Increased susceptibility to infections; and
Fibrous growth in or around the heart.
ECD occurs in adults, most often in middle age. Age of onset is usually between 40 and 60 years of age. The prognosis for ECD is poor. The mean survival time is less than three years with visceral (organ) involvement. Death typically results from respiratory, heart, and kidney damage.
Treatment for ECD is symptom-specific and temporary. Treatment with surgical debulking, corticosteroid therapy, interferon, chemotherapy used for hairy cell leukemia, and radiation therapy has been utilized with varying degrees of success.
Clinical history and physical examination that describes the diagnostic features of the impairment;
Biopsy of affected organ system; and
Functional assessment of the organ system involved (for example, pulmonary function tests).
Listing level severity must be documented.