What is Erdheim-Chester Disease?

November 12, 2012

What is Erdheim-Chester Disease?

Erdheim-Chester disease is an extremely rare disorder that can affect many different organs of the body.

It is typified by an increased production and accumulation of histiocyte cells whose purpose is to fight infection. They penetrate into the loose connective tissue of the body and cause the tissue to become dense, fibrotic and thick. A variety of organs may be affected by this and if not successfully treated organ failure can occur.

Male and female adults are normally affected by Erdheim-Chester disease, but childhood cases have been recorded. The cause of this disease is currently not known but at present it is not recognized as an auto-immune disease, cancer or infection. To date defective genes have not been found to be the cause and it is not considered to be contagious. It is categorized as a histiocystic disease and on many occasions is referred to as a rare multi-system, non langerhans cell histiocytosis.

The symptoms which present with ECD (Erdheim-Chester Disease) are dependent on the organ that is involved and these vary with each individual patient. A doctor is the only person who is in a position to diagnose this disease. Common reported symptoms may include:

  • Weight loss

  • Fever

  • Muscle and joint aches

  • Fatigue

  • Symptoms similar to a flu which constantly return and do not disappear quickly

  • Excessive urination with a thirst

  • Issues with balance

  • Walking difficulties

  • Involuntary quick eye movements

  • Slurred speech

  • Pain in the abdomen and lower back

  • Eyes bulging

  • Difficulty with vision

  • Problems with bones in the jaw and teeth

  • Cardiac problems

  • Interstitial lung disease

The most common sign of Erdheim-Chester Disease is an increase in the density of bone marrow along with a thicker than what is considered normal outside layer. This is normally found in the longer bones of the arms and legs. This is viewed by a bone scan and x-ray.

The doctor may request the following tests to be carried out to reach a diagnosis of ECD:

  • X-Rays

  • Electrocardiogram (EKG or ECG)

  • Echocardiogram

  • CT or CAT scans

  • MRI scans

  • Bone scans

  • PET scans

  • Tissue biopsy

  • Bone biopsy

It is very difficult to make a diagnosis of ECD and many patients can have this disease and it has not been detected. There are other diseases which may have signs and symptoms similar to ECD and these are:

  • Endocrinological

  • Hypophysitis

  • Kidney disease or failure

  • LangerhansÂ’s cell histiocytosis

  • Lymphoma

  • Meningiomas

  • Metabolic disorders

  • Metastatic carcinoma

  • Multiple Sclerosis

  • Myelofibrosis

  • Neurosarcoidosis

  • Pagets Disease

  • pseudotumor

  • Retroperitoneal Fibrosis or OrmondÂ’s Disease

  • Thyroid abnormalities

The symptoms of Erdheim-Chester disease are so vague that it is important to visit the doctor if you have any suspicion you may be suffering from this and tests may be carried out.

At present there is not a cure for ECD. The effective treatments which are available try to control and reduce the size of the growth(s) that are connected to this disease. The available evidence, which is very limited, seems to suggest that if the treatment is stopped the growth(s) return very quickly. And as a consequence of this treatment will be ongoing for an indefinite period of time.

The medical fraternity does not have a treatment plan which can be considered as the best available. But there are some doctors who have seen patients who have this disease and have recorded their findings. These findings show the treatment plan which was available for each individual patient. The treatments which were carried out on individual patients include the following:

  • Immunotherapy (Interferon)

  • Systemic corticosteroids

  • Chemotherapy

  • Immunosuppressants

  • Methotrexate

  • Tamoxifen

  • Imatinib (Gleevec)

  • Anakinra (Kineret)

  • Tocilumab (Actemra)

  • Actemra

  • Surgical removing or reducing any mass which has formed

  • Radiation treatment

  • Long Term Antibiotics

  • Modafinil (Provigil)

It is also important to mention that there are patients with Erdheim-Chester Disease who have been living a good quality of life for many years. As this is such a rare disease if there are any concerns or questions then make an appointment to speak with the doctor.

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