Familial mediterranean fever pathophysiology: Difference between revisions

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*The majority of [[mutations]] occur in [[exon]] 10.<ref name="pmid11464238">{{cite journal |vauthors=Touitou I |title=The spectrum of Familial Mediterranean Fever (FMF) mutations |journal=Eur. J. Hum. Genet. |volume=9 |issue=7 |pages=473–83 |date=July 2001 |pmid=11464238 |doi=10.1038/sj.ejhg.5200658 |url=}}</ref>
*The majority of [[mutations]] occur in [[exon]] 10.<ref name="pmid11464238">{{cite journal |vauthors=Touitou I |title=The spectrum of Familial Mediterranean Fever (FMF) mutations |journal=Eur. J. Hum. Genet. |volume=9 |issue=7 |pages=473–83 |date=July 2001 |pmid=11464238 |doi=10.1038/sj.ejhg.5200658 |url=}}</ref>
*The E148Q, M680I, M694V, M694I, and V726A [[mutations]] have been observed to be responsible for more than 80% of [[FMF]] cases in the Middle Eastern region.
*The E148Q, M680I, M694V, M694I, and V726A [[mutations]] have been observed to be responsible for more than 80% of [[FMF]] cases in the Middle Eastern region.
*The most common disease associated gene variants are:<ref name="Touitou2001">{{cite journal|last1=Touitou|first1=Isabelle|title=The spectrum of Familial Mediterranean Fever (FMF) mutations|journal=European Journal of Human Genetics|volume=9|issue=7|year=2001|pages=473–483|issn=1018-4813|doi=10.1038/sj.ejhg.5200658}}</ref>
**M694V
**V726A
**M680I
**M694I
*The [[disease]] inherits in an [[autosomal recessive]] mode. However, there is an increasing number of data reporting the [[autosomal dominant]] [[inheritance]].<ref name="pmid7677151">{{cite journal |vauthors=Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M |title=Dominant inheritance in two families with familial Mediterranean fever (FMF) |journal=Am. J. Med. Genet. |volume=57 |issue=3 |pages=455–7 |date=July 1995 |pmid=7677151 |doi=10.1002/ajmg.1320570319 |url=}}</ref><ref name="pmid10787449">{{cite journal |vauthors=Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soytürk M, Akar S, Pepys MB, Tunca M, Hawkins PN |title=The genetic basis of autosomal dominant familial Mediterranean fever |journal=QJM |volume=93 |issue=4 |pages=217–21 |date=April 2000 |pmid=10787449 |doi=10.1093/qjmed/93.4.217 |url=}}</ref><ref name="pmid14679589">{{cite journal |vauthors=Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J |title=A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? |journal=Am. J. Med. Genet. A |volume=124A |issue=1 |pages=67–73 |date=January 2004 |pmid=14679589 |doi=10.1002/ajmg.a.20296 |url=}}</ref>
*The [[disease]] inherits in an [[autosomal recessive]] mode. However, there is an increasing number of data reporting the [[autosomal dominant]] [[inheritance]].<ref name="pmid7677151">{{cite journal |vauthors=Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M |title=Dominant inheritance in two families with familial Mediterranean fever (FMF) |journal=Am. J. Med. Genet. |volume=57 |issue=3 |pages=455–7 |date=July 1995 |pmid=7677151 |doi=10.1002/ajmg.1320570319 |url=}}</ref><ref name="pmid10787449">{{cite journal |vauthors=Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soytürk M, Akar S, Pepys MB, Tunca M, Hawkins PN |title=The genetic basis of autosomal dominant familial Mediterranean fever |journal=QJM |volume=93 |issue=4 |pages=217–21 |date=April 2000 |pmid=10787449 |doi=10.1093/qjmed/93.4.217 |url=}}</ref><ref name="pmid14679589">{{cite journal |vauthors=Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J |title=A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? |journal=Am. J. Med. Genet. A |volume=124A |issue=1 |pages=67–73 |date=January 2004 |pmid=14679589 |doi=10.1002/ajmg.a.20296 |url=}}</ref>


Revision as of 02:48, 22 May 2019


Template:Familial Mediterranean fever Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Pathophysiology

  • Approximately, all cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin or marenostrin (from the original name of the Mediterranean sea, Marenostrum).[1]
  • Mutation in this gene are associated with excess production of interleukin-1β (IL-1β) and an exaggerated inflammatory response.[2]
  • The function of pyrin has not been completely elucidated, but it appears to be a suppressor of the activation of caspase 1, the enzyme that stimulates production of interleukin 1β, a cytokine central to the process of inflammation. It is not conclusively known what exactly sets off the attacks, and why overproduction of IL-1 would lead to particular symptoms in particular organs (e.g. joints or the peritoneal cavity).

Genetics

Associated Conditions

Conditions associated with Familial Mediterranean fever include:

  • Certain type of vasculitis such as:[9]
    • IgA vasculitis
    • PAN-like vasculitis with more perirenal bleeding and CNS involvement

References

  1. ↑ Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Horwitz ME, Mansfield E, Holland SM, O'Shea JJ, Rosenberg HF, Malech HL, Kastner DL (May 2000). "The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators". Blood. 95 (10): 3223–31. PMID 10807793.
  2. ↑ Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL (June 2006). "The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production". Proc. Natl. Acad. Sci. U.S.A. 103 (26): 9982–7. doi:10.1073/pnas.0602081103. PMC 1479864. PMID 16785446.
  3. ↑ "A candidate gene for familial Mediterranean fever". Nat. Genet. 17 (1): 25–31. September 1997. doi:10.1038/ng0997-25. PMID 9288094.
  4. ↑ Touitou I (July 2001). "The spectrum of Familial Mediterranean Fever (FMF) mutations". Eur. J. Hum. Genet. 9 (7): 473–83. doi:10.1038/sj.ejhg.5200658. PMID 11464238.
  5. ↑ Touitou, Isabelle (2001). "The spectrum of Familial Mediterranean Fever (FMF) mutations". European Journal of Human Genetics. 9 (7): 473–483. doi:10.1038/sj.ejhg.5200658. ISSN 1018-4813.
  6. ↑ Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M (July 1995). "Dominant inheritance in two families with familial Mediterranean fever (FMF)". Am. J. Med. Genet. 57 (3): 455–7. doi:10.1002/ajmg.1320570319. PMID 7677151.
  7. ↑ Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soytürk M, Akar S, Pepys MB, Tunca M, Hawkins PN (April 2000). "The genetic basis of autosomal dominant familial Mediterranean fever". QJM. 93 (4): 217–21. doi:10.1093/qjmed/93.4.217. PMID 10787449.
  8. ↑ Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J (January 2004). "A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?". Am. J. Med. Genet. A. 124A (1): 67–73. doi:10.1002/ajmg.a.20296. PMID 14679589.
  9. ↑ Abbara S, Grateau G, Ducharme-Bénard S, Saadoun D, Georgin-Lavialle S (2019). "Association of Vasculitis and Familial Mediterranean Fever". Front Immunol. 10: 763. doi:10.3389/fimmu.2019.00763. PMID 31031761.
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