TN 62 (10-23)

DI 23022.750 Histiocytosis Syndromes

COMPASSIONATE ALLOWANCES INFORMATION

HISTIOCYTOSIS SYNDROMES

ALTERNATE NAMES

Hand-Schuller-Christian disease; Hemophagocytic Syndrome; Histiocytosis X; Langerhans Cell Histiocytosis; Letterer-Siwe disease; LCH; Malignant Histiocytosis syndrome T-cell Lymphoma; Non-Langerhans Cell Histiocytosis; Nonlipid Reticuloendotheliosis; Pulmonary Histiocytosis X; Pulmonary Langerhans Cell Granulomatosis; Rosai-Dorfman Disease; Sinus Histiocytosis with Massive Lymphadenopathy

DESCRIPTION

Histiocytosis is a general name for a group of syndromes where immune cells known as histiocytes (monocytes/macrophages) proliferate and mistakenly attack the body instead of infections. There are three major types of histiocytosis:

  • Class I - Langerhans cell histiocytosis (LCH; previously known as Histiocytosis X);

  • Class II - Hemophagocytic lymphohistiocytosis (HLH; non-Langerhans); and

  • Class III - T-cell Lymphoma, also known as malignant histiocytosis syndrome.

The excessive increase in the number of histiocytes may form inflammatory tumors in various body organs and bones, including the skull. For example, Langerhans cells infiltrating the lungs leads to inflammation and stiffening of the lungs. Tumors in weight-bearing bones, such as the legs or spine, may cause the bones to fracture without cause.

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

Diagnostic testing: Biopsy of skin or bone marrow documenting the presence of Langerhans or T-cell lymphoma.

Diagnosing HLH requires a set of defined criteria, including:

  • Hemophagocytosis on tissue biopsy;

  • Cytopenia (low blood cell levels);

  • Low fibrinogen levels;

  • Splenomegaly (enlarged spleen);

  • Fever; and

  • Rash.

The following testing supports the diagnosis and provides information on clinical severity:

  • Bone imaging studies;

  • Complete blood counts (CBC);

  • Bronchoscopy with biopsy;

  • Chest x-ray; and

  • Pulmonary function tests.

Physical findings: Symptoms and signs depend on specific organ involvement. In children, these may include:

  • Abdominal pain;

  • Rash;

  • Bone pain;

  • Delayed puberty;

  • Growth failure due to pituitary involvement;

  • Irritability;

  • Failure to thrive;

  • Mental deterioration;

  • Seizures;

  • Headache; and

  • Frequent urination due to diabetes insipidus.

Children over age 5 usually only have bone involvement.

Adults may experience:

  • Bone pain;

  • Cough and shortness of breath;

  • Fever;

  • Frequent urination;

  • Weight loss; and

  • Rash.

ICD-9: 202.5, 277.89

ICD-10: J84.82

PROGRESSION

LCH is relatively more common in children than in adults. The prognosis for children is highly variable, with infants and young children more likely to have systemic disease that leads to death. Adults with pulmonary histiocytosis X have a poor prognosis. In familial HLH, only 21 to 25% survive 5 years after diagnosis.

TREATMENT

These disorders are treated with corticosteroids, anti-cancer immunosuppressive drugs, radiation, and surgery, as well as supportive treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Biopsy of affected organ system; and

  • Functional assessment of organ system involved (for example, pulmonary function tests).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

Listing level severity must be documented.

8.09

 

13.06 A

 

103.02

In children, solitary histiocytosis or eosinophilic granuloma treated with complete surgical excision does not meet listing level severity.

108.09

 

113.03

 

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.


To Link to this section - Use this URL:
http://policy.ssa.gov/poms.nsf/lnx/0423022750
DI 23022.750 - Histiocytosis Syndromes - 10/06/2023
Batch run: 10/06/2023
Rev:10/06/2023