Erythromelalgia: Description, Causes and Risk Factors:A rare disorder most common in middle age, characterized by paroxysmal attacks of severe burning pain, reddening, hyperalgesia, and sweating, involving one or more extremities, usually both feet; the attacks can be triggered by warmth, and are usually relieved by cold and limb elevation.Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.It is believed mutations in the SCN9A gene can cause erythromelalgia. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain.The SCN9A gene mutations that cause erythromelalgia result in NaV1.7 sodium channels that open more easily than usual and stays open longer than normal, increasing the flow of sodium ions into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the signs and symptoms of erythromelalgia. It is unknown why the pain episodes associated with erythromelalgia mainly occur in the hands and feet.An estimated 15 percent of cases of erythromelalgia are caused by mutations in the SCN9A gene. Other cases are thought to have a non-genetic cause or may be caused by mutations in one or more as-yet unidentified genes.Symptoms:The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs.Diagnosis:Erythromelalgia can be diagnosed through observation and interview of the patient. A doctor can make a diagnosis of erythromelalgia by asking pertinent questions of the patient and observing the affected body parts. The doctor will be looking at "tell-tale" signs of erythromelalgia, such as, hot feet, burning pain and/or redness occurring in warm or increased temperatures, after exercise or extended period of time on feet and worsening in the evening/night time hours.Another critical element of the diagnosis of erythromelalgia is how the person can attain relief from the pain and discomfort: through elevation and cooling of the involved extremity (hands, feet, toes, etc).The patient must tell the doctor about their method of attaining relief and any other affect the symptoms have on their lifestyle.Tests:A complete blood count (CBC) with differential should be obtained to search for evidence of a myeloproliferative disorder.
Triple-phase technetium (Tc) bone scanning is warranted for patients with a history of trauma or stroke and those in whom reflex sympathetic dystrophy is a strong possibility.
In severe cases biopsy of the skin for examination is warranted.
Treatment:A number of different medications have been shown effective in relieving symptoms of erythromelalgia. However, no one drug helps everyone. Traditional over-the-counter pain medications or stronger prescription drugs help some. Anticonvulsant drugs like Neurontin and Lyrica help others. Certain antidepressants like Cymbalta help still others. Combinations of drugs also have been reported effective. For instance, Lyrica and Cymbalta, at the lowest possible dosage, have been reported to be more effective than either drug by itself.Strong anecdotal evidence from erythromelalgia patients shows that a combination of drugs such as duloxetine and pregabalin is an effective way of reducing the stabbing pains and burning sensation symptoms of erythromelalgia in conjunction with the appropriate analgesia.Ten patients with primary erythromelalgia were studied. Appropriate investigations were performed to exclude associated causes. Patients were subsequently treated with oral venlafaxine 37.5 mg twice daily. The patients were examined weekly for evaluation of symptoms, as well as for severity and extent of skin warmth and erythema. All patients were able to tolerate the treatment without major side-effects.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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