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Erythromelalgia: Difference between revisions

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{{Stub}}{{Condition|inheritance=Autosomal dominant|genetics=SCN9A gain of function}}
{{Stub}}{{Condition|inheritance=Primary disease: Autosomal dominant|genetics=Primary disease: 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]].
Primary erythromelalgia is a genetic pain condition that is caused by an autosomal dominant mutation in the SCN9A gene. It is a type of [[Sodium Channelopathies|sodium channelopathy]]. Secondary erythromelalgia occurs in older people and is associated with certain conditions like myeloproliferative disorders.


== Classification ==
{| class="wikitable"
|+Key differences between primary and secondary erythromelalgia<ref name=":0">{{Cite journal|last=Mann|first=N.|last2=King|first2=T.|last3=Murphy|first3=R.|date=2019-07|title=Review of primary and secondary erythromelalgia|url=https://pubmed.ncbi.nlm.nih.gov/30609105|journal=Clinical and Experimental Dermatology|volume=44|issue=5|pages=477ā€“482|doi=10.1111/ced.13891|issn=1365-2230|pmid=30609105}}</ref>
|-
!Parameter
!Primary
!Secondary
|-
|Gene involved
|SCN9A gene
|None identified
|-
|Disease association
|Not applicable
|Multiple disease associations
|-
|Distribution
|Symmetrical distribution more likely
|Asymmetrical distribution more likely
|-
|Age of onset
|Younger age of onset
|Older age of onset
|-
|Treatment
|Standard treatment plus targeted treatment (e.g. mexilitine, novel selective Nav1.7 modulators in trials)
|Standard treatment plus diagnosis and treatment of associated disease
|}
== Aetiology ==
Primary erythromelalgia is caused by a gain of function mutation in the SCN9A gene
Secondary erythromelalgia has the following associated conditions:<ref name=":0" />
* Haematological disease: Polycythaemia vera, Idiopathic thrombocytopenia, Leukaemia, Systemic macrocytosis
* Drug eruptions: Iodine contrast, Calcium channel blockers, Bromocriptine
* Connective tissue disorders: Systemic lupus erythematosus, Rheumatoid arthritis, Sjogren syndrome, Vasculitis
* Neoplasia: Primary colon or breast carcinoma, Paraneoplastic, Subcutaneous panniculitis-like T-cell lymphoma, Astrocytoma, Thymoma
* Metabolic: Diabetes mellitus (types 1 and 2), Hypercholesterolaemia, Gout
* Infective: Influenza, Acquired immunodeficiency syndrome, Recurrent bacterial infections, Syphilis
* Musculoskeletal disorders: Sciatica, Carpal tunnel syndrome, Neck and other trauma, including surgery, Burns and frostbite
* Neuropathies: Neurofibromatosis, Multiple sclerosis, Small fibre neuropathies
* Other: Atherosclerosis, Thromboembolism and cholesterol emboli, Mushroom intoxication and mercury poisoning, Lichen sclerosis
== Clinical Features ==
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.
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.
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.
Episodes are typically triggered by exposure to warmth and are relieved by cold. Other less consistent triggering factors include exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents. Some patients have [[Allodynia and Alloknesis|allodynia and hyperalgesia]]. This can affect sleep and normal activities, and even wearing shoes and socks.


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.
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.


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.
== Treatment ==
Wear open toed shoes or have uncovered feet and stay in cool environments.
Ā 
Swimming for cooling of teh limbs


== See Also ==
== See Also ==
[https://www.ncbi.nlm.nih.gov/books/NBK1163/ GeneReviews - SCN9A Pain Syndromes]
[https://www.ncbi.nlm.nih.gov/books/NBK1163/ GeneReviews - SCN9A Pain Syndromes]


==Resources==
{{PDF|Erythromelalgia - Mann 2018.pdf}}
== References ==
<references/>
{{Reliable sources}}
{{Reliable sources}}
[[Category:Widespread]]
[[Category:Widespread]]
[[Category:Polyneuropathies]]
[[Category:Polyneuropathies]]

Revision as of 14:02, 12 March 2023

This article is a stub.
Erythromelalgia
Inheritance Primary disease: Autosomal dominant
Genetics Primary disease: SCN9A gain of function


Primary erythromelalgia is a genetic pain condition that is caused by an autosomal dominant mutation in the SCN9A gene. It is a type of sodium channelopathy. Secondary erythromelalgia occurs in older people and is associated with certain conditions like myeloproliferative disorders.

Classification

Key differences between primary and secondary erythromelalgia[1]
Parameter Primary Secondary
Gene involved SCN9A gene None identified
Disease association Not applicable Multiple disease associations
Distribution Symmetrical distribution more likely Asymmetrical distribution more likely
Age of onset Younger age of onset Older age of onset
Treatment Standard treatment plus targeted treatment (e.g. mexilitine, novel selective Nav1.7 modulators in trials) Standard treatment plus diagnosis and treatment of associated disease

Aetiology

Primary erythromelalgia is caused by a gain of function mutation in the SCN9A gene

Secondary erythromelalgia has the following associated conditions:[1]

  • Haematological disease: Polycythaemia vera, Idiopathic thrombocytopenia, Leukaemia, Systemic macrocytosis
  • Drug eruptions: Iodine contrast, Calcium channel blockers, Bromocriptine
  • Connective tissue disorders: Systemic lupus erythematosus, Rheumatoid arthritis, Sjogren syndrome, Vasculitis
  • Neoplasia: Primary colon or breast carcinoma, Paraneoplastic, Subcutaneous panniculitis-like T-cell lymphoma, Astrocytoma, Thymoma
  • Metabolic: Diabetes mellitus (types 1 and 2), Hypercholesterolaemia, Gout
  • Infective: Influenza, Acquired immunodeficiency syndrome, Recurrent bacterial infections, Syphilis
  • Musculoskeletal disorders: Sciatica, Carpal tunnel syndrome, Neck and other trauma, including surgery, Burns and frostbite
  • Neuropathies: Neurofibromatosis, Multiple sclerosis, Small fibre neuropathies
  • Other: Atherosclerosis, Thromboembolism and cholesterol emboli, Mushroom intoxication and mercury poisoning, Lichen sclerosis

Clinical Features

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 and are relieved by cold. Other less consistent triggering factors include exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents. Some patients have allodynia and hyperalgesia. This can affect sleep and normal activities, and even wearing shoes and socks.

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.

Treatment

Wear open toed shoes or have uncovered feet and stay in cool environments.

Swimming for cooling of teh limbs

See Also

GeneReviews - SCN9A Pain Syndromes

Resources

Erythromelalgia - Mann 2018.pdf

References

  1. ā†‘ 1.0 1.1 Mann, N.; King, T.; Murphy, R. (2019-07). "Review of primary and secondary erythromelalgia". Clinical and Experimental Dermatology. 44 (5): 477ā€“482. doi:10.1111/ced.13891. ISSN 1365-2230. PMID 30609105. Check date values in: |date= (help)

Literature Review

Library.pngLiterature Review

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