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Primary erythromelalgia

MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
Synonyms: Erythermalgia, primary; Erythromelalgia; SCN9A-Related Inherited Erythromelalgia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Primary erythromelalgia (403390002); Erythromelalgia Type II (403390002)
 
Gene (location): SCN9A (2q24.3)
OMIM®: 133020
Orphanet: ORPHA90026

Disease characteristics

Excerpted from the GeneReview: SCN9A-Related Inherited Erythromelalgia
SCN9A-related inherited erythromelalgia (SCN9A-related IEM) is characterized by recurrent attacks of bilateral and symmetric intense pain, redness, warmth, and swelling involving the feet and, less frequently, the hands. SCN9A-related IEM is not associated with an organic disease. Manifestations may vary within a family. Onset is usually in childhood or adolescence but has been recognized in infants and adults. At onset, episodes are triggered by warmth; other precipitating factors include: exercise, tight shoes, wearing socks, alcohol, spicy foods, and other vasodilating agents. In advanced disease, symptoms may occur many times a day or become constant. Some individuals have allodynia (pain evoked by a normally innocuous stimulus) and hyperalgesia (increased sensitivity to a painful stimulus). Episodes may be disabling, interfere with sleep, and severely limit normal activities such as walking, participation in sports, wearing socks and shoes, and attending school or going to work. [from GeneReviews]
Authors:
Fuki M Hisama  |  Sulayman D Dib-Hajj  |  Stephen G Waxman   view full author information

Additional descriptions

From OMIM
'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained with cold (Michiels et al., 2005). The severity of the disorder may progress with age, and symptoms may extend over a larger body area, such as over the ankles and lower legs, and become constant (Mandell et al., 1977). Waxman and Dib-Hajj (2005) provided a review of primary erythermalgia. Although 'primary' or 'familial erythromelalgia' are sometimes used as alternative terms for primary erythermalgia (Waxman and Dib-Hajj, 2005), secondary erythromelalgia is a distinct acquired disorder associated with thrombocythemia or myeloproliferative disorders. It has relatively late onset and symptoms are caused by platelet aggregation in end-arteriolar circulation, leading to ischemia and symptoms (Michiels and van Joost, 1990). Treatment with aspirin, which irreversibly inhibits platelet cyclooxygenase activity, affords relief from acquired erythromelalgia (Michiels et al., 1984; Drenth et al., 1996). Similarly, acquired erythromelalgia vanishes with lowering the platelet count to normal with chemotherapy (Michiels et al., 1985). Van Genderen et al. (1993) emphasized the distinction between hereditary erythermalgia and acquired erythromelalgia. In primary erythermalgia, the burning pain, redness, and warmth of feet and lower legs, with relative sparing of the toes, are easily provoked by warmth and exercise. In contrast, in acquired erythromelalgia the burning pain and red congestion preferentially involves one or more toes or fingers or sole of the forefoot (Michiels and van Joost, 1990). Van Genderen et al. (1993) noted that 3 of the 5 patients reported by Smith and Allen (1938) were not consistent with the diagnosis of primary erythromelalgia because the symptoms were relieved promptly by aspirin, consistent with acquired erythromelalgia. Small Fiber Neuropathy Small nerve fiber neuropathy (SFNP) is a relatively common disorder of thinly myelinated and unmyelinated nerve fibers characterized clinically by adult onset of neuropathic pain, often of a burning quality, and autonomic symptoms. Affected individuals have reduced intraepidermal nerve fiber density affecting the small diameter nerve fibers; large diameter fibers are spared (summary by Faber et al., 2012).  http://www.omim.org/entry/133020
From GHR
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.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.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.  https://ghr.nlm.nih.gov/condition/erythromelalgia

Clinical features

Pain
MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in a muscle or group of muscles.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. . There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber. - Drinking plenty of water and other liquids. - Getting enough exercise. - Taking time to have a bowel movement when you need to. - Using laxatives only if your doctor says you should. - Asking your doctor if medicines you take may cause constipation. . It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Abnormality of the musculature
MedGen UID:
867380
Concept ID:
C4021745
Anatomical Abnormality
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary erythromelalgia
Follow this link to review classifications for Primary erythromelalgia in Orphanet.

Recent clinical studies

Etiology

Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ
J Neurol Neurosurg Psychiatry 2013 Apr;84(4):386-91. Epub 2012 Nov 5 doi: 10.1136/jnnp-2012-303719. PMID: 23129781Free PMC Article
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M
BMC Musculoskelet Disord 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23. PMID: 22348792Free PMC Article
Ceyhan AM, Gurses I, Yildirim M, Akkaya VB
J Drugs Dermatol 2010 May;9(5):565-7. PMID: 20480803
Delye H, Lagae L, Vermylen J, Nuttin B
Neurosurgery 2005 Oct;57(4 Suppl):E404; discussion E404. PMID: 16234658
Orstavik K, Mørk C, Kvernebo K, Jørum E
Pain 2004 Aug;110(3):531-8. doi: 10.1016/j.pain.2004.03.030. PMID: 15288393

Diagnosis

Lee JY, Sim WS, Kang RA, Lee EK, Yang JY, Kim DY
Pediatr Dermatol 2017 Jan;34(1):e47-e50. Epub 2016 Oct 4 doi: 10.1111/pde.12985. PMID: 27699862
Ge W, Wei B, Zhu H, Miao Z, Zhang W, Leng C, Li J, Zhang D, Sun M, Xu X
Int J Neurosci 2017 May;127(5):448-453. Epub 2016 Jun 3 doi: 10.1080/00207454.2016.1191483. PMID: 27211852
Kim DT, Rossignol E, Najem K, Ospina LH
J AAPOS 2015 Oct;19(5):478-9. doi: 10.1016/j.jaapos.2015.05.015. PMID: 26486037
Tang Z, Chen Z, Tang B, Jiang H
Orphanet J Rare Dis 2015 Sep 30;10:127. doi: 10.1186/s13023-015-0347-1. PMID: 26419464Free PMC Article
Jakob A, Creutzfeldt R, Staszewski O, Winterpacht A, Berner R, Hufnagel M
Klin Padiatr 2012 Sep;224(5):309-12. Epub 2011 Dec 14 doi: 10.1055/s-0031-1287823. PMID: 22170168

Therapy

Kim DT, Rossignol E, Najem K, Ospina LH
J AAPOS 2015 Oct;19(5):478-9. doi: 10.1016/j.jaapos.2015.05.015. PMID: 26486037
Kalava K, Roberts C, Adair JD, Raman V
J Clin Rheumatol 2013 Aug;19(5):284-5. doi: 10.1097/RHU.0b013e31829cf8a2. PMID: 23872544
Cregg R, Laguda B, Werdehausen R, Cox JJ, Linley JE, Ramirez JD, Bodi I, Markiewicz M, Howell KJ, Chen YC, Agnew K, Houlden H, Lunn MP, Bennett DL, Wood JN, Kinali M
Neuromolecular Med 2013 Jun;15(2):265-78. Epub 2013 Jan 6 doi: 10.1007/s12017-012-8216-8. PMID: 23292638Free PMC Article
Jakob A, Creutzfeldt R, Staszewski O, Winterpacht A, Berner R, Hufnagel M
Klin Padiatr 2012 Sep;224(5):309-12. Epub 2011 Dec 14 doi: 10.1055/s-0031-1287823. PMID: 22170168
Iqbal J, Bhat MI, Charoo BA, Syed WA, Sheikh MA, Bhat IN
Ann Saudi Med 2009 Jul-Aug;29(4):316-8. PMID: 19584578Free PMC Article

Prognosis

Ceyhan AM, Gurses I, Yildirim M, Akkaya VB
J Drugs Dermatol 2010 May;9(5):565-7. PMID: 20480803
Lee MJ, Yu HS, Hsieh ST, Stephenson DA, Lu CJ, Yang CC
J Neurol 2007 Feb;254(2):210-4. Epub 2007 Feb 8 doi: 10.1007/s00415-006-0328-3. PMID: 17294067
Delye H, Lagae L, Vermylen J, Nuttin B
Neurosurgery 2005 Oct;57(4 Suppl):E404; discussion E404. PMID: 16234658
Harrison CM, Goddard JM, Rittey CD
Arch Dis Child 2003 Jan;88(1):65-6. PMID: 12495966Free PMC Article

Clinical prediction guides

Wu MT, Huang PY, Yen CT, Chen CC, Lee MJ
PLoS One 2013;8(1):e55212. Epub 2013 Jan 31 doi: 10.1371/journal.pone.0055212. PMID: 23383113Free PMC Article
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M
BMC Musculoskelet Disord 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23. PMID: 22348792Free PMC Article
Iqbal J, Bhat MI, Charoo BA, Syed WA, Sheikh MA, Bhat IN
Ann Saudi Med 2009 Jul-Aug;29(4):316-8. PMID: 19584578Free PMC Article
Lee MJ, Yu HS, Hsieh ST, Stephenson DA, Lu CJ, Yang CC
J Neurol 2007 Feb;254(2):210-4. Epub 2007 Feb 8 doi: 10.1007/s00415-006-0328-3. PMID: 17294067
Sakakibara R, Fukutake T, Kita K, Hattori T
J Auton Nerv Syst 1996 Apr 20;58(1-2):121-2. PMID: 8740669

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