Erdheim-Chester Disease ECD
Erdheim-Chester disease is a rare form of non-Langerhans-Cell Histiocytosis. It involves the excessive production of histiocytes, which are a type of white blood cell. These cells, which normally help fight infection and injury, then gather in different organs and tissues and can result in a variety of symptoms, including organ failure.

 

Erdheim-Chester is a disease that most often becomes apparent in middle age, with an average age at onset of 53 years. It can affect men and women. The rate of occurrence is not known, although it is believed to be under-diagnosed and/or misdiagnosed. At the present time, it is not categorized as a cancer, immune disorder, or infection. It is not believed to be contagious or hereditary. The cause is not known although some cases have the BRAF V600E mutation also found in LCH and cancers such as melanoma and thyroid cancer.

The first two cases of ECD were reported by scientists Jakob Erdheim and William Chester in 1930. In 1972, Dr. Ronald Jaffe reported a third case and coined the name Erdheim-Chester disease (ECD).

This disease mostly affects long bones (arms and legs), but it can occur in the tissues behind the eyeballs, kidney, skin, brain, lung, heart, pituitary gland, and a part of the posterior abdominal wall called the retro peritoneum. Erdheim-Chester is sometimes mistaken for Langerhans Cell Histiocytosis. However, a biopsy of the affected tissue differs in a number of ways from LCH and can establish a definite diagnosis. The cells in ECD stain for the same proteins as Juvenile Xanthogranuloma (JXG) but the clinical presentation and age is different. The symptoms and course of the disease depend on the location and extent of the involvement of the internal organs (i.e. the disease outside the bones).

Because this is a very rare disease, no large studies have been performed, and no treatment plan has been established that is widely accepted. However, various treatments have been used with limited success. These include steroids, immunotherapy (treatment to restore the ability of the immune system such as interferon), chemotherapy to control the over-production of cells, the use of high-energy rays (radiation therapy), and/or surgery. Some patients with the BRAF V600E have been treated with Vemurafenib, which targets this mutation. While these treatments may control the symptoms and growth of the disease, there is no known “cure.”

Erdheim Chester can be life-threatening with complications such as heart failure, severe damage to the lungs, and kidney failure. However, with treatment, there are patients who are able to live a near-normal life.

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

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The questions below specifically relate to Erdheim-Chester Disease (ECD).
Erdheim-Chester Disease

1. What causes Erdheim-Chester Disease (ECD)?
Erdheim Chester disease involves the excessive production of histiocytes, which are a type of white blood cell. What causes over-production of these cells is not yet known, although some cases have the BRAF V600E mutation also found in LCH and cancers such as melanoma and thyroid cancer.

2. Is there a cure for Erdheim-Chester Disease?
The best treatments available today may control and sometimes shrink the tumors associated with the disease. However, we usually don’t use the term “cure” for this disease, since no specific amount of time without active disease has been established to determine that a patient is cured.

3. What are the different therapies/treatments commonly used to treat Erdheim-Chester Disease?
To date, there is no universally accepted treatment for Erdheim Chester. Various treatments, however, have been used with variable success. These include steroids, interferon, radiation, surgery, and chemotherapy such as vinblastine, vincristine, Cytoxan (cyclophosphamide), Adriamycin (doxorubicin), and 2CdA (cladribine). Other drugs have also been including Vemurafenib, which targets the BRAF V600E mutation.

4. Can an infant be tested at birth for ECD?
No, a biopsy of the affected tissue, rather than a blood test, is required for diagnosis and unless the patient has a lesion this could not be performed.

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

Help ensure that we can continue to bring you this vital informational material, make a donation today

What are the possible side effects of interferon?

More common signs/symptoms include:
a. Flu-like symptoms (Fever, chills, headache, dizziness, fatigue, muscle aches, nausea, vomiting, diarrhea)
b. Irritability/depression Decreased appetite
c. Irregular heart rate
d. Decreased blood counts (red cells, white cells, and clotting cells)
e. Liver abnormalities

What are the possible side effects of 2-CdA (cladribine /leustatin)?

More common signs/symptoms include:
a. Flu-like symptoms (Fever, chills, headache, fatigue, nausea/vomiting)
b. Decreased appetite
c. Constipation
d. Low blood counts (red cells, white cells, and clotting cells)
e. Skin rash/redness/itching

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

Help ensure that we can continue to bring you this vital informational material, make a donation today

Erdheim-Chester disease Newsfeed

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Related Articles

Treating Heart Inflammation With Interleukin-1 Blockade in a Case of Erdheim-Chester Disease.

Front Immunol. 2018;9:1233

Authors: Tomelleri A, Cavalli G, De Luca G, Campochiaro C, D'Aliberti T, Tresoldi M, Dagna L

Abstract
Pericarditis is an inflammatory heart disease, which may be idiopathic or secondary to autoimmune or auto-inflammatory diseases and often leads to severe or life-threatening complications. Colchicine and non-steroidal anti-inflammatory drugs represent the mainstay of treatment, whereas use of corticosteroids is associated with recurrence of disease flares. While effective and safe anti-inflammatory therapies remain an unmet clinical need, emerging clinical and experimental evidence points at a promising role of inhibition of the pro-inflammatory cytokine interleukin-1 (IL-1). We thus evaluated treatment with the IL-1 receptor antagonist anakinra in a case of extremely severe pericarditis with cardiac tamponade and heart failure secondary to Erdheim-Chester disease (ECD), a rare clonal disorder of macrophages characterized by rampant inflammation and multiorgan involvement. A 62-year-old man was admitted to the Emergency Department with severe pericardial effusion requiring the creation of a pleuro-pericardial window. A whole-body contrast-enhanced computed tomography pointed at a diagnosis of ECD with involvement of the heart and pericardium and of the retroperitoneal space. Over the following days, an echocardiography revealed a closure of the pleuro-pericardial window and a relapse of the pericardial effusion. Treatment with anakinra, the recombinant form of the naturally occurring IL-1 receptor antagonist, was started at a standard subcutaneous dose of 100 mg/day. After 2 days, we observed a dramatic clinical improvement, an abrupt reduction of the inflammatory markers, and a reabsorption of the pericardial effusion. Anakinra was maintained as monotherapy, and the patient remained asymptomatic in the absence of disease flares for the following year. Recent studies point at inhibition of IL-1 activity as an attractive treatment option for patients with refractory idiopathic recurrent pericarditis. Anakinra treatment may also have a role in patients with pericarditis in the setting of systemic inflammatory disorders, such as ECD.

PMID: 29910817 [PubMed]

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