Erdheim-Chester Disease is a fatal and an extremely rare disorder that can affect many different organs of the body. It is characterized by excessive production and accumulation of specific cells whose normal function is to fight infections. These cells, which are called histiocytes, infiltrate the loose connective tissue (lipid-laden macrophages) of the body. As a result this tissue becomes thickened, dense and fibrotic. Multiple different organs can be affected. Unless successful treatment is found, organ failure can result. It is also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis. The rate of occurrence is not known, although it is believed to be under-diagnosed and/or misdiagnosed. At the present time,
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In 1972, Dr. Ronald Jaffe reported a third case and coined the name Erdheim-Chester disease (ECD). As of present time, only several hundred cases had been documented in the medical literature, the majority of which were described in the past ten years. Erdheim Chester is life-threatening with complications such as heart failure, severe damage to the lungs, and kidney failure.
SYMPTOMS:
ECD symptoms depend on which organ(s) is involved, which varies with each patient. For this reason, the symptoms of ECD will also vary with each patient. Some of the more common symptoms might include:
• The most common symptom reported is bone pain in the long bones of the legs and arms on both sides (bilateral). Leg pain occurs most often in the knees, shins and ankles. Arm pain is most often in the upper arms
• General symptoms of weight loss, fever, night sweats, muscle and joint aches, feeling of discomfort, weakness, and fatigue (Malaise), flu-like symptoms that linger or continue to return
• Excessive thirst and urination (Diabetes Insipidus)
• Balance issues, difficulty walking (Ataxia), slurred speech (Dysarthria), involuntary and rapid eye movements …show more content…
It is reported that more than 50% of ECD patients test positive for this mutation. The genetic mutation is present in ECD lesions only, not in the “germ line,” which is to say that it is not a hereditary problem. This testing should be done using immunohistochemistry and an ultrasensitive assay as there have been a large number of false negative findings associated with BRAF testing of ECD patients. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen.
To date, there is no "cure" for ECD, although more effective treatments are being discovered. The best treatments available today control and sometimes shrink the growths associated with the disease. Many of these treatments are based on anecdotal experience, but over time are showing they do help patients. They include:
Immunotherapy (Interferon): Interferon-α is normally considered the "first-line" of treatment". Interferon is a protein the body creates when it is trying to fight off a foreign agent such as a virus. A reported typical dosage for treating of ECD with pegylated interferon-α is an injection under the skin of 135ug once a
In 1972, Dr. Ronald Jaffe reported a third case and coined the name Erdheim-Chester disease (ECD). As of present time, only several hundred cases had been documented in the medical literature, the majority of which were described in the past ten years. Erdheim Chester is life-threatening with complications such as heart failure, severe damage to the lungs, and kidney failure.
SYMPTOMS:
ECD symptoms depend on which organ(s) is involved, which varies with each patient. For this reason, the symptoms of ECD will also vary with each patient. Some of the more common symptoms might include:
• The most common symptom reported is bone pain in the long bones of the legs and arms on both sides (bilateral). Leg pain occurs most often in the knees, shins and ankles. Arm pain is most often in the upper arms
• General symptoms of weight loss, fever, night sweats, muscle and joint aches, feeling of discomfort, weakness, and fatigue (Malaise), flu-like symptoms that linger or continue to return
• Excessive thirst and urination (Diabetes Insipidus)
• Balance issues, difficulty walking (Ataxia), slurred speech (Dysarthria), involuntary and rapid eye movements …show more content…
It is reported that more than 50% of ECD patients test positive for this mutation. The genetic mutation is present in ECD lesions only, not in the “germ line,” which is to say that it is not a hereditary problem. This testing should be done using immunohistochemistry and an ultrasensitive assay as there have been a large number of false negative findings associated with BRAF testing of ECD patients. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen.
To date, there is no "cure" for ECD, although more effective treatments are being discovered. The best treatments available today control and sometimes shrink the growths associated with the disease. Many of these treatments are based on anecdotal experience, but over time are showing they do help patients. They include:
Immunotherapy (Interferon): Interferon-α is normally considered the "first-line" of treatment". Interferon is a protein the body creates when it is trying to fight off a foreign agent such as a virus. A reported typical dosage for treating of ECD with pegylated interferon-α is an injection under the skin of 135ug once a