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.

Diagnostic testing:

• •

  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;

• •

  Weight loss;

• •

  Night sweats;

• •

  Muscle and joint aches, weakness and fatigue;

• •

  Difficulty speaking;

• •

  Kidney problems;

• •

  Soft tissue masses or lesions on the body;

• •

  Bulging eyes due to a mass behind the eye;

• •

  Vision problems;

• •

  Shortness of breath;

• •

  Interstitial lung disease;

• •

  Increased susceptibility to infections; and

• •

  Fibrous growth in or around the heart.

ICD-9: 277.89

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.

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 the organ system involved (for example, pulmonary function tests).

Suggested Listings for Evaluation:

REMARKS

Listing level severity must be documented.