Erdheim-Chester disease

Other Names: ECD; Erdheim Chester disease; Lipoid granulomatosis

(ERD-hime-CHEH-ster dih-ZEEZ) A very rare disorder in which too many histiocytes (a type of immune cells) build up in certain tissues and organs and damage them. Erdheim-Chester disease most often affects the long bones of the arms and legs, but it can also affect the skin, lungs, heart, kidneys, brain, tissue behind the eyes, and the retroperitoneum (the back wall of the abdomen). The symptoms can range from mild to severe and life-threatening. Erdheim-Chester disease is most common in adults. It is a type of histiocytosis. Also called ECD.

cause

The underlying cause of ECD is not always known. Some people with ECD test positive for an acquired (non-inherited) mutation in the BRAF gene (most commonly) or one of several other genes, which may allow histiocytes to reproduce uncontrollably.

Signs and symptoms

The signs and symptoms of ECD vary from person to person depending upon the specific locations and extent of involvement. For example, the long bones of the legs are commonly affected, leading to bone pain. When tissues around the eyes are affected, a person may have soft, fatty bumps on the eyelids or protrusion of the eyeballs. Lung involvement may cause pulmonary fibrosis, which can lead to life-threatening complications. People with pituitary gland involvement may develop diabetes insipidus, and brain involvement may lead to various neurologic symptoms. Non-specific symptoms that may develop in people with ECD include weight loss, fever, muscle and joint aches, and malaise. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
• Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
• Bone pain
• Diabetes insipidus
• Dysuria(Painful or difficult urination)
• Fatigue(Tired)
• Fever
• Hyperhidrosis(Excessive sweating)
• Hypogonadotropic hypogonadism
• Increased bone mineral density(Increased bone density)
• Osteolysis(Breakdown of bone)
• Osteomyelitis(Bone infection)
• Polydipsia(Extreme thirst)
• Proptosis(Bulging eye)
• Weight loss
• Xanthelasma(Fatty deposits in skin around the eyes)

30%-79% of people have these symptoms

• Abdominal pain(Pain in stomach)
• Abnormal aortic valve morphology
• Hydronephrosis
• Joint swelling
• Retroperitoneal fibrosis

5%-29% of people have these symptoms

• Abnormal cerebellum morphology(Abnormality of the cerebellum)
• Abnormal pericardium morphology
• Anemia(Low number of red blood cells or hemoglobin)
• Ataxia
• Avascular necrosis(Death of bone due to decreased blood supply)
• Congestive heart failure(Cardiac failure)
• Cough(Coughing)
• Dysarthria(Difficulty articulating speech)
• Dyspnea(Trouble breathing)
• Hyperreflexia(Increased reflexes)
• Interstitial pulmonary abnormality(Abnormality in area between air sacs in lung)
• Nausea and vomiting
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Pleural effusion(Fluid around lungs)
• Ptosis(Drooping upper eyelid)
• Pulmonary fibrosis
• Renal insufficiency(Renal failure)
• Skin rash
• Visual impairment(Impaired vision)

Diagnosis

The disease is diagnosed based on the symptoms, biopsies of involved tissue examined under a microscope (pathology), and specialized tests that may include blood tests and imaging studies such as X-rays, CT scans, MRIs, and bone scans.

Treatment

There is no cure or standard treatment for ECD. Various treatments have been attempted with varying success at controlling symptoms, including corticosteroids, chemotherapy, radiation therapy, immunotherapy, and surgery.

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

• Vemurafenib (Brand name: Zelboraf)Treatment of patients with Erdheim-Chester Disease with BRAF V600 mutation.

Prognosis

The long-term outlook (prognosis) varies from person to person. Without successful treatment organ failure can occur, but with treatment, there are people with ECD who are able to live a near-normal life.

NIH genetic and rare disease info

• NIH info on Erdheim-Chester disease

Erdheim-Chester disease is a rare disease.

Erdheim-Chester disease Resources
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