What is Erdheim-Chester Disease?

Erdheim-Chester Disease is an extremely rare pathological condition affecting multiple systems of the body which usually strikes in adulthood. The primary characteristic of Erdheim-Chester Disease is the accumulation of histiocytes in multiple tissues and organs of the body. Histiocytes are cells that usually respond to an injury or infection and eliminate the invading foreign body causing the infection or injury.

The wide areas of accumulation of these cells in individuals with Gardner Syndrome usually are the long bones of the extremities, the tissues of the skin, lungs, brain, and the pituitary gland.1,2 The symptoms caused by this accumulation are significantly variable and depend on the organ or tissue affected by Erdheim-Chester Disease. There is no known cause found as of yet for the development of Erdheim-Chester Disease.

Erdheim-Chester Disease

What are the Causes of Erdheim-Chester Disease?

As stated, the exact cause for the development of Erdheim-Chester Disease is not yet known, although it is believed to be caused due to an abnormal inflammatory process in which there is abnormal accumulation of histiocytes cells along with scarring and overgrowth of fibrous tissue.3

Due to the histiocyte cells infiltration resulting in overgrowth of fatty tissue and development of scar tissue causes impairment in the functioning of the affected organ and development of Erdheim-Chester Disease.

What are the Symptoms of Erdheim-Chester Disease?

The primary presenting feature during the initial stages of Erdheim-Chester Disease is severe bone pain following histiocyte cells infiltration of bone marrow, especially in the bones of the lower extremities to include the feet and the knees.4 These symptoms are bilateral and symmetrical meaning that the intensity of the symptoms is equal in both the extremities. As the disease condition progresses, the affected individual may also experience unintentional weight loss, fever, pain in the muscles and joints and a general sense of malaise.

Additionally, there may also be involvement of the skin and tissues in the retrobulbar region. In some cases, the brain, especially the pituitary gland and brainstem also tends to get affected due to Erdheim-Chester Disease. In some cases, there is also development of fatty plaques or nodules on the eyelids or skin as a result of Erdheim-Chester Disease.

If the lungs get affected due to Erdheim-Chester Disease, there is scarring of the lung tissues as the disease condition progresses resulting in the affected individual experiencing dry cough, dyspnea with any activity, congestive heart failure as a result of Erdheim-Chester Disease.

If the brain gets involved due to Erdheim-Chester Disease, the affected individual will experience ataxia, abnormal gait pattern, impaired ability to speak, and nystagmus as a result of Erdheim-Chester Disease.

How is Erdheim-Chester Disease Diagnosed?

A thorough physical examination of the patient is the first step towards diagnosing Erdheim-Chester Disease. The physician may also take a detailed history of the patient inquiring as to the severity and duration of the symptoms.

Advanced imaging studies in the form of MRI and CT scan along with x-rays are also done in order to diagnose Erdheim-Chester Disease.5 These radiological studies will clearly show the findings in the bones that are distinct with Erdheim-Chester Disease.

A biopsy of the affected muscle tissues may also clearly show fatty infiltration and accumulation of histiocytes which is characteristic of Erdheim-Chester Disease. The results of these tests confirm the diagnosis of Erdheim-Chester Disease.

How is Erdheim-Chester Disease Treated?

There is no specific treatment for Erdheim-Chester Disease. There have been various treatment methodologies tried but their effectiveness has been questionable.

The treatments that have been tried for Erdheim-Chester Disease include utilization of high dosage of corticosteroids for a short period of time. There are also certain chemotherapy drugs that have been shown to have some success in treatment of Erdheim-Chester Disease. Few scientific publication suggests success in treatment following use of combination of immunosuppressant and high dosage of corticosteroids.6, 7

In some cases, radiation therapy and surgical treatment were attempted with limited success in treating Erdheim-Chester Disease. Apart from this, the treatment includes palliative therapy, symptomatic pain relief and supportive therapy to ease the suffering caused by Erdheim-Chester Disease.

References

  1. Erdheim-Chester Disease: The Importance of Information Integration.
    Nikonova A1, Esfahani K1, Chausse G2, Probst S2, Petrogiannis-Haliotis T1,3, Knecht H1, Gyger G4., Case Rep Oncol. 2017 Jul 11;10(2):613-619.

  2. A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement.
    Balasubramanian G1, Modiri A1, Affi M1, Hagen CE2, Batdorf B2, Oshima K2, Michaelis L3, Saeian K1., ACG Case Rep J. 2017 Aug 2;4:e95.

  3. Combined Erdheim-Chester disease and Langerhans cell histiocytosis of skin are both monoclonal: a rare case with human androgen-receptor gene analysis.
    Tsai JW1, Tsou JH, Hung LY, Wu HB, Chang KC., J Am Acad Dermatol. 2010 Aug;63(2):284-91.

  4. Erdheim-Chester Disease: A Rare Presentation of a Rare Disease.
    Matzumura M1, Arias-Stella J 3rd2, Novak JE2., J Investig Med High Impact Case Rep. 2016 Aug 22;4(3):2324709616663233.

  5. The Imaging Findings of Erdheim-Chester Disease: A Multimodality Approach to Diagnosis and Staging.
    Martineau P1, Pelletier-Galarneau M1, Zeng W1., World J Nucl Med. 2017 Jan-Mar;16(1):71-74.

  6. Successful treatment of Erdheim-Chester disease with combination of interleukin-1-targeting drugs and high-dose glucocorticoids.
    Darstein F1, Kirschey S, Heckl S, Rahman F, Schwarting A, Schuchmann M, Galle PR, Zimmermann T.

  7. Sirolimus plus prednisone for Erdheim-Chester disease: an open-label trial.
    Gianfreda D1, Nicastro M1, Galetti M2, Alberici F1, Corradi D3, Becchi G3, Baldari G4, De Filippo M5, Ferretti S6, Moroni G7, Foti R8, Di Gangi M8, Jeannin G9, Saffroy R10, Emile JF11, Buzio C1, Vaglio A1., Blood. 2015 Sep 3;126(10):1163-71.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: October 25, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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