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Erythromelalgia

Erythromelalgia, also known as Mitchell's disease (after Silas Weir Mitchell) and red neuralgia, is a rare disorder in which blood vessels, usually in the extremeties and especially in the feet, are blocked and inflamed, causing a painful burning and throbbing sensation and red skin. The attacks come and go, and tend to be worse in summer. Erythromelalgia is often associated with vascular diseases such as polycythaemia vera, thrombocytosis or with heavy metal poisoning. more...

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Erythromelalgia responds to cooling, and often disappears completely on taking non-steroidal anti-inflammatory drugs, such as aspirin.

A primary (or familial) form is termed erythermalgia. This occurs in patients who are younger. The disease is very rare. It has been linked to a mutation of the SCN9A (a sodium channel), the gene of which is located on the long arm of the second chromosome (2q24). It inherits in an autosomal dominant fashion.

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Treatment of polycythemia vera - Tips - Author Abstract
From American Family Physician, 10/1/03 by Chuck Carter

Polycythemia vera (PV) is one of three chronic myeloproliferative disorders, along with essential thrombocythemia and myelofibrosis with myeloid metaplasia. The incidence of PV is 2.3 per 100,000 patients, and the median age at diagnosis is 60 years. Tefferi recommends treatment options for PV.

Polycythemia describes an increase in red blood cell mass. The increase in red blood cell mass may be caused by an actual increase in red blood cell mass (true polycythemia) or a spurious laboratory value (apparent polycythemia). True polycythemia is classified as either primary or secondary. Primary polycythemia is caused by a myeloproliferation and is not mediated by excess erythropoietin. In contrast, secondary polycythemia can be caused by an external source, such as "smoker's polycythemia," or an internal disorder, such as renal cancer. Erythropoietin levels in secondary polycythemias vary depending on the etiology.

PV can have life-threatening complications, including stroke and evolution into either myelofibrosis with myeloid metaplasia or acute leukemia. Treatment is directed according to patient risk stratification. Frequent phlebotomy and chemotherapy are the cornerstones of treatment. Hematocrit levels should be maintained below 45 percent in white men and 42 percent in women and blacks. Chemotherapy using hydroxyurea, busulfan, or pipobroman is indicated for high-risk patients. (Pipobroman is not available in the United States.) Interferon-alfa is another chemotherapeutic option for reducing red blood cell burden and treating PV-associated pruritus.

Non-life-threatening sequelae include microvascular complications and aquagenic pruritus. Microvascular complications may appear clinically as headache, light-headedness, transient neurologic abnormality, transient ocular disturbance, tinnitus, atypical chest pain, paresthesias, and erythromelalgia (a rare but painful burning sensation of the hands or feet). Low-dose aspirin (81 mg or less per day) can be used to treat these disorders. Aquagenic pruritus is a generalized body itching often brought on by a hot bath. Treatment options include either selective serotonin reuptake inhibitors or interferon-alfa.

Tefferi A. Polycythemia vera: a comprehensive review and clinical recommendations. Mayo Clin Proc February 2003;78:174-94.

COPYRIGHT 2003 American Academy of Family Physicians
COPYRIGHT 2003 Gale Group

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