Erythromelalgia: Difference between revisions

Erythromelalgia
Inheritance	Autosomal dominant
Genetics	SCN9A gain of function

Revision as of 13:50, 12 March 2023

This article is a stub.

Primary erythromelalgia is a genetic pain condition that is caused by a heterozygous pathogenic variant of SCN9A. It is a type of sodium channelopathy.

Patients complain of red or purple, swollen, burning hands and feet that is aggravated by warmth and exercise. The feet are more commonly affected then hands. These episodes usually occur in the evening or at night. Affected individuals may fail to notice or mention the redness especially if it only affects the feet. The symptoms are typically bilateral. Manifestations of this disorder may vary significantly within a family.

SCN9A-EM usually begins in childhood or adolescence, but in some families, it has been identified in infants. While rare, later onset (age >20 years) has been reported in some individuals and families. Initially, the symptoms involve the soles of the feet and hands, but with time, the lower legs and arms may become affected. In advanced cases, symptoms may occur many times a day and persist for hours, particularly at night or become constant and unremitting.

Episodes are typically triggered by exposure to warmth. A characteristic feature is that episodes are provoked by warm or hot ambient temperatures and relieved by cooling the extremities. Other less consistent triggering factors include exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents.

Some individuals with erythromelalgia may experience allodynia (pain evoked by a normally innocuous stimulus) and hyperalgesia (increased sensitivity to a painful stimulus). These episodes can be disabling, affecting sleep and normal activities such as walking, participation in sports, wearing shoes and socks, and attending school or work. Individuals with erythromelalgia may limit their activities in warm weather and prefer to stay in air-conditioned environments. Some may even move to cooler climates to avoid triggering episodes.

Affected individuals tend to wear open-toed shoes and prefer to sleep with their feet uncovered. Swimming can be helpful because it keeps the limbs cool during exercise. Neurologic examination is typically normal, although reduced ankle reflexes and decreased distal sensation can be seen. Skin biopsy of individuals with erythromelalgia shows nonspecific thickening of blood vessel basement membrane, perivascular edema and mononuclear infiltrate, and reduced density of the autonomic nerve plexuses.

Literature Review

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-{{Stub}}
+{{Stub}}{{Condition|inheritance=Autosomal dominant|genetics=SCN9A gain of function}}
 Primary erythromelalgia is a genetic pain condition that is caused by a heterozygous pathogenic variant of SCN9A. It is a type of [[Sodium Channelopathies|sodium channelopathy]].
-Patients complain of red, swollen, burning hands and feet that is aggravated by warmth and exercise.
+Patients complain of red or purple, swollen, burning hands and feet that is aggravated by warmth and exercise. The feet are more commonly affected then hands. These episodes usually occur in the evening or at night. Affected individuals may fail to notice or mention the redness especially if it only affects the feet. The symptoms are typically bilateral. Manifestations of this disorder may vary significantly within a family.
+SCN9A-EM usually begins in childhood or adolescence, but in some families, it has been identified in infants. While rare, later onset (age >20 years) has been reported in some individuals and families. Initially, the symptoms involve the soles of the feet and hands, but with time, the lower legs and arms may become affected. In advanced cases, symptoms may occur many times a day and persist for hours, particularly at night or become constant and unremitting.
+Episodes are typically triggered by exposure to warmth. A characteristic feature is that episodes are provoked by warm or hot ambient temperatures and relieved by cooling the extremities. Other less consistent triggering factors include exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents.
+Some individuals with erythromelalgia may experience allodynia (pain evoked by a normally innocuous stimulus) and hyperalgesia (increased sensitivity to a painful stimulus). These episodes can be disabling, affecting sleep and normal activities such as walking, participation in sports, wearing shoes and socks, and attending school or work. Individuals with erythromelalgia may limit their activities in warm weather and prefer to stay in air-conditioned environments. Some may even move to cooler climates to avoid triggering episodes.
+Affected individuals tend to wear open-toed shoes and prefer to sleep with their feet uncovered. Swimming can be helpful because it keeps the limbs cool during exercise. Neurologic examination is typically normal, although reduced ankle reflexes and decreased distal sensation can be seen. Skin biopsy of individuals with erythromelalgia shows nonspecific thickening of blood vessel basement membrane, perivascular edema and mononuclear infiltrate, and reduced density of the autonomic nerve plexuses.
 == See Also ==