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Familial Mediterranean fever(FMF)

MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Synonyms: Benign paroxysmal peritonitis; Familial Mediterranean Fever Type 1; Familial Mediterranean Fever Type 2; FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE; FMF; Periodic disease; Periodic fever; Periodic peritonitis; POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Periodic disease (12579009); Paroxysmal polyserositis (12579009); Familial Mediterranean fever (12579009); Familial recurrent polyserositis (12579009); Familial paroxysmal polyserositis (12579009); Periodic polyserositis (12579009); Periodic peritonitis (12579009); Periodic familial peritonitis (12579009); MEF - Familial Mediterranean fever (12579009); Recurrent polyserositis (12579009); Benign paroxysmal peritonitis (12579009); FMF - Familial Mediterranean fever (12579009)
 
Gene (location): MEFV (16p13.3)
OMIM®: 249100
Orphanet: ORPHA342

Disease characteristics

Excerpted from the GeneReview: Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual. [from GeneReviews]
Authors:
Mordechai Shohat   view full author information

Additional descriptions

From OMIM
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. Amyloidosis with renal failure is a complication and may develop without overt crises (French FMF Consortium, 1997). See also autosomal dominant FMF (134610), which is caused by heterozygous mutation in the MEFV gene.  http://www.omim.org/entry/249100
From GHR
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.  https://ghr.nlm.nih.gov/condition/familial-mediterranean-fever

Clinical features

Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
Renal amyloidosis
MedGen UID:
120633
Concept ID:
C0268382
Disease or Syndrome
A form of amyloidosis that affects the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Pericarditis
MedGen UID:
18377
Concept ID:
C0031046
Disease or Syndrome
An inflammatory process affecting the pericardium.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Peritonitis
MedGen UID:
14697
Concept ID:
C0031154
Pathologic Function
INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
A transient increase in the number of leukocytes in a body fluid.
Pleuritis
MedGen UID:
10807
Concept ID:
C0032231
Disease or Syndrome
INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
A transient increase in the number of leukocytes in a body fluid.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
Pericarditis
MedGen UID:
18377
Concept ID:
C0031046
Disease or Syndrome
An inflammatory process affecting the pericardium.
Peritonitis
MedGen UID:
14697
Concept ID:
C0031154
Pathologic Function
INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Renal amyloidosis
MedGen UID:
120633
Concept ID:
C0268382
Disease or Syndrome
A form of amyloidosis that affects the kidney.
Episodic fever
MedGen UID:
82922
Concept ID:
C0277799
Finding
Cycles of fever with intervening periods of normothermia.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Acute or chronic inflammation of JOINTS.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Mediterranean fever

Professional guidelines

PubMed

Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J, Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S
Ann Rheum Dis 2015 Apr;74(4):635-41. Epub 2015 Jan 27 doi: 10.1136/annrheumdis-2014-206844. PMID: 25628446
Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E
Semin Arthritis Rheum 2013 Dec;43(3):387-91. Epub 2013 Jun 3 doi: 10.1016/j.semarthrit.2013.04.011. PMID: 23742958
Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network.
Ann Rheum Dis 2012 Oct;71(10):1599-605. Epub 2012 Jun 1 doi: 10.1136/annrheumdis-2011-201271. PMID: 22661645Free PMC Article

External

Orphanet, Familial Mediterranean fever, 2013

Recent clinical studies

Etiology

Pehlivan E, Adrovic A, Sahin S, Barut K, Kul Cınar O, Kasapcopur O
J Pediatr 2018 Jan;192:253-255. Epub 2017 Oct 12 doi: 10.1016/j.jpeds.2017.08.078. PMID: 29031862
Omma A, Sandikci SC, Kücüksahin O, Alisik M, Erel O
J Korean Med Sci 2017 Oct;32(10):1588-1594. doi: 10.3346/jkms.2017.32.10.1588. PMID: 28875601Free PMC Article
Tatar E, Uslu A, Simsek C, Aykas A, Bozkaya G, Imamoglu C
Exp Clin Transplant 2017 Feb;15(Suppl 1):261-264. doi: 10.6002/ect.mesot2016.P131. PMID: 28260482
Tatar E, Karatas M, Aykas A, Okut G, Bozkaya G, Uslu A
Exp Clin Transplant 2017 Feb;15(Suppl 1):240-243. doi: 10.6002/ect.mesot2016.P113. PMID: 28260476
Onur H, Aral H, Arica V, Bercem GA, Kasapcopur O
Pediatr Rheumatol Online J 2016 Apr 27;14(1):28. doi: 10.1186/s12969-016-0089-1. PMID: 27121284Free PMC Article

Diagnosis

Pehlivan E, Adrovic A, Sahin S, Barut K, Kul Cınar O, Kasapcopur O
J Pediatr 2018 Jan;192:253-255. Epub 2017 Oct 12 doi: 10.1016/j.jpeds.2017.08.078. PMID: 29031862
Omma A, Sandikci SC, Kücüksahin O, Alisik M, Erel O
J Korean Med Sci 2017 Oct;32(10):1588-1594. doi: 10.3346/jkms.2017.32.10.1588. PMID: 28875601Free PMC Article
Peces R, Afonso S, Peces C, Nevado J, Selgas R
BMC Med Genet 2017 Aug 31;18(1):97. doi: 10.1186/s12881-017-0457-9. PMID: 28859624Free PMC Article
Tatar E, Uslu A, Simsek C, Aykas A, Bozkaya G, Imamoglu C
Exp Clin Transplant 2017 Feb;15(Suppl 1):261-264. doi: 10.6002/ect.mesot2016.P131. PMID: 28260482
Petrushkin H, Stanford M, Fortune F, Jawad AS
Ocul Immunol Inflamm 2016 Aug;24(4):422-30. Epub 2015 Mar 11 doi: 10.3109/09273948.2015.1010012. PMID: 25760918

Therapy

Omma A, Sandikci SC, Kücüksahin O, Alisik M, Erel O
J Korean Med Sci 2017 Oct;32(10):1588-1594. doi: 10.3346/jkms.2017.32.10.1588. PMID: 28875601Free PMC Article
Peces R, Afonso S, Peces C, Nevado J, Selgas R
BMC Med Genet 2017 Aug 31;18(1):97. doi: 10.1186/s12881-017-0457-9. PMID: 28859624Free PMC Article
Tatar E, Uslu A, Simsek C, Aykas A, Bozkaya G, Imamoglu C
Exp Clin Transplant 2017 Feb;15(Suppl 1):261-264. doi: 10.6002/ect.mesot2016.P131. PMID: 28260482
Tatar E, Karatas M, Aykas A, Okut G, Bozkaya G, Uslu A
Exp Clin Transplant 2017 Feb;15(Suppl 1):240-243. doi: 10.6002/ect.mesot2016.P113. PMID: 28260476
Petrushkin H, Stanford M, Fortune F, Jawad AS
Ocul Immunol Inflamm 2016 Aug;24(4):422-30. Epub 2015 Mar 11 doi: 10.3109/09273948.2015.1010012. PMID: 25760918

Prognosis

Pehlivan E, Adrovic A, Sahin S, Barut K, Kul Cınar O, Kasapcopur O
J Pediatr 2018 Jan;192:253-255. Epub 2017 Oct 12 doi: 10.1016/j.jpeds.2017.08.078. PMID: 29031862
Omma A, Sandikci SC, Kücüksahin O, Alisik M, Erel O
J Korean Med Sci 2017 Oct;32(10):1588-1594. doi: 10.3346/jkms.2017.32.10.1588. PMID: 28875601Free PMC Article
Tatar E, Uslu A, Simsek C, Aykas A, Bozkaya G, Imamoglu C
Exp Clin Transplant 2017 Feb;15(Suppl 1):261-264. doi: 10.6002/ect.mesot2016.P131. PMID: 28260482
Migita K, Hisanaga S, Izumi Y, Kawahara C, Shigemitsu Y, Iwanaga N, Araki T, Kamata M, Izumi M, Kumagai K, Kawakami A
Mod Rheumatol 2017 Sep;27(5):905-909. Epub 2015 Apr 30 doi: 10.3109/14397595.2015.1031722. PMID: 25800639
Petrushkin H, Stanford M, Fortune F, Jawad AS
Ocul Immunol Inflamm 2016 Aug;24(4):422-30. Epub 2015 Mar 11 doi: 10.3109/09273948.2015.1010012. PMID: 25760918

Clinical prediction guides

Omma A, Sandikci SC, Kücüksahin O, Alisik M, Erel O
J Korean Med Sci 2017 Oct;32(10):1588-1594. doi: 10.3346/jkms.2017.32.10.1588. PMID: 28875601Free PMC Article
Bonfrate L, Scaccianoce G, Palasciano G, Ben-Chetrit E, Portincasa P
Eur J Clin Invest 2017 Sep;47(9):622-629. Epub 2017 Aug 2 doi: 10.1111/eci.12783. PMID: 28678379
Cekin N, Akyurek ME, Pinarbasi E, Ozen F
Gene 2017 Aug 30;626:9-13. Epub 2017 May 5 doi: 10.1016/j.gene.2017.05.013. PMID: 28483595
Kukuy O, Livneh A, Mendel L, Benor A, Giat E, Perski O, Feld O, Kassel Y, Ben-Zvi I, Lidar M, Holtzman EJ, Leiba A
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):32-37. Epub 2017 Feb 9 PMID: 28229824
Lordoglu B, Acar B, Yazilitas F, Ozlu SG, Senel S
Int J Pediatr Otorhinolaryngol 2016 Aug;87:139-42. Epub 2016 Jun 14 doi: 10.1016/j.ijporl.2016.06.015. PMID: 27368461

Recent systematic reviews

Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, Ozdogan H, Abu I, Gattorno M, Hawkins PN, Yuce S, Kallinich T, Bilginer Y, Kastner D, Carmona L
Ann Rheum Dis 2016 Apr;75(4):644-51. Epub 2016 Jan 22 doi: 10.1136/annrheumdis-2015-208690. PMID: 26802180
Erer B, Demirkaya E, Ozen S, Kallinich T
Rheumatol Int 2016 Apr;36(4):483-7. Epub 2015 Dec 28 doi: 10.1007/s00296-015-3413-z. PMID: 26712372
Demirkaya E, Erer B, Ozen S, Ben-Chetrit E
Rheumatol Int 2016 Mar;36(3):325-31. Epub 2015 Dec 19 doi: 10.1007/s00296-015-3408-9. PMID: 26687683
Wu B, Xu T, Li Y, Yin X
Cochrane Database Syst Rev 2015 Mar 20;(3):CD010893. doi: 10.1002/14651858.CD010893.pub2. PMID: 25791871
Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J, Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S
Ann Rheum Dis 2015 Apr;74(4):635-41. Epub 2015 Jan 27 doi: 10.1136/annrheumdis-2014-206844. PMID: 25628446

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