ERDHEIM CHESTER DISEASE
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ALTERNATE NAMES
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Erdheim Chester Syndrome; Lipoid Granulomatosis; Non-Langerhans Cell Histiocytosis;
Polyostotic Sclerosing Histiocytosis
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:
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X-rays, CT scans, MRIs, and bone scans indicating abnormal thickening, masses, or
lesions;
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Bronchoscopy with biopsy;
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Pulmonary function tests to provide information on clinical severity
Physical findings: Symptoms and signs depend on specific organ involvement. Symptoms of ECD may include:
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Bone pain in the long bones of the arms and legs;
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Muscle and joint aches, weakness and fatigue;
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Soft tissue masses or lesions on the body;
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Bulging eyes due to a mass behind the eye;
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Interstitial lung disease;
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Increased susceptibility to infections; and
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Fibrous growth in or around the heart.
ICD-9: 277.89
ICD-10: E88.89
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC
ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and physical examination that describes the diagnostic features of
the impairment;
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Biopsy of affected organ system; and
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Functional assessment of the organ system involved (for example, pulmonary function
tests).
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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13.06 A
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Listing level severity must be documented.
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Equals
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* 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.
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