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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, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
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

Disease characteristics

Excerpted from the GeneReview: Familial Mediterranean Fever
Familial Mediterranean fever (FMF) comprises 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. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Mordechai Shohat  |  Gabrielle J Halpern   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.  http://ghr.nlm.nih.gov/condition/familial-mediterranean-fever

Clinical features

Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
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.
Nephrotic syndrome
MedGen UID:
504341
Concept ID:
CN000100
Finding
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Renal amyloidosis
MedGen UID:
505005
Concept ID:
CN001734
Finding
A form of amyloidosis that affects the kidney.
Meningitis
MedGen UID:
504788
Concept ID:
CN001179
Finding
Inflammation of the meninges.
Arthralgia
MedGen UID:
409545
Concept ID:
C1963066
Finding
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Peritonitis
MedGen UID:
505282
Concept ID:
CN002348
Finding
Inflammation of the peritoneum.
Pericarditis
MedGen UID:
409582
Concept ID:
C1963211
Finding
Leukocytosis
MedGen UID:
155453
Concept ID:
C0750426
Finding
A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
Renal amyloidosis
MedGen UID:
505005
Concept ID:
CN001734
Finding
A form of amyloidosis that affects the kidney.
Episodic fever
MedGen UID:
500916
Concept ID:
CN001768
Finding
Periodic (episodic or recurrent) bouts of fever.
Pleuritis
MedGen UID:
505104
Concept ID:
CN001903
Finding
Inflammation of the pleura.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Leukocytosis
MedGen UID:
155453
Concept ID:
C0750426
Finding
A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFamilial 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22661645Free PMC Article

External

Orphanet, Familial Mediterranean fever, 2013

Recent clinical studies

Etiology

Nussinovitch N, Esev K, Lidar M, Nussinovitch U, Livneh A
Isr Med Assoc J 2015 May;17(5):306-9. PMID: 26137658
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. [Epub ahead of print] PMID: 25628446
Demir A, Akyüz F, Göktürk S, Evirgen S, Akyüz U, Örmeci A, Soyer Ö, Karaca C, Demir K, Gundogdu G, Güllüoğlu M, Erer B, Kamalı S, Kaymakoglu S, Besisik F, Gül A
Scand J Gastroenterol 2014 Dec;49(12):1414-8. Epub 2014 Nov 5 doi: 10.3109/00365521.2014.976838. [Epub ahead of print] PMID: 25369738
Bashardoust B, Maleki N
Intern Med J 2014 Nov;44(11):1128-33. doi: 10.1111/imj.12520. PMID: 24989840
Cevik C, Silfeler I, Arica V, Yengil E, Akbay E, Sarac T, Basarslan F, Akoglu E
Int J Pediatr Otorhinolaryngol 2013 Dec;77(12):2040-3. Epub 2013 Oct 24 doi: 10.1016/j.ijporl.2013.10.003. [Epub ahead of print] PMID: 24210292

Diagnosis

Nussinovitch N, Esev K, Lidar M, Nussinovitch U, Livneh A
Isr Med Assoc J 2015 May;17(5):306-9. PMID: 26137658
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. [Epub ahead of print] PMID: 25628446
Ornek A, Kurucay M, Henning BF, Pagonas N, Schlottmann R, Schmidt WE, Giese A
J Ultrasound Med 2014 Nov;33(11):1991-7. doi: 10.7863/ultra.33.11.1991. PMID: 25336487
Matsumoto S, Urayoshi S, Yoshida Y
BMC Res Notes 2014 Sep 27;7:678. doi: 10.1186/1756-0500-7-678. [Epub ahead of print] PMID: 25261084Free PMC Article
Bashardoust B, Maleki N
Intern Med J 2014 Nov;44(11):1128-33. doi: 10.1111/imj.12520. PMID: 24989840

Therapy

Özçakar ZB, Elhan AH, Yalçınkaya F
Rheumatology (Oxford) 2014 Oct;53(10):1767-72. Epub 2014 Apr 24 doi: 10.1093/rheumatology/keu138. [Epub ahead of print] PMID: 24764265
Bavbek N, Ceri M, Akdeniz D, Kargili A, Duranay M, Erdemli K, Akcay A, Guz G
Ren Fail 2014 Jun;36(5):743-7. Epub 2014 Mar 3 doi: 10.3109/0886022X.2014.886935. [Epub ahead of print] PMID: 24580410
Moradian MM, Sarkisian T, Amaryan G, Hayrapetyan H, Yeghiazaryan A, Davidian N, Avanesian N
Genet Med 2014 Mar;16(3):258-63. Epub 2013 Aug 1 doi: 10.1038/gim.2013.112. [Epub ahead of print] PMID: 23907647
Cevik C, Silfeler I, Arica V, Yengil E, Akbay E, Sarac T, Basarslan F, Akoglu E
Int J Pediatr Otorhinolaryngol 2013 Dec;77(12):2040-3. Epub 2013 Oct 24 doi: 10.1016/j.ijporl.2013.10.003. [Epub ahead of print] PMID: 24210292
Işıkay S, Yılmaz K, Yiğiter R, Balat A, Büyükçelik M
Pediatr Neurol 2013 Dec;49(6):417-9. Epub 2013 Sep 29 doi: 10.1016/j.pediatrneurol.2013.07.010. [Epub ahead of print] PMID: 24084143

Prognosis

Ornek A, Kurucay M, Henning BF, Pagonas N, Schlottmann R, Schmidt WE, Giese A
J Ultrasound Med 2014 Nov;33(11):1991-7. doi: 10.7863/ultra.33.11.1991. PMID: 25336487
Matsumoto S, Urayoshi S, Yoshida Y
BMC Res Notes 2014 Sep 27;7:678. doi: 10.1186/1756-0500-7-678. [Epub ahead of print] PMID: 25261084Free PMC Article
Bashardoust B, Maleki N
Intern Med J 2014 Nov;44(11):1128-33. doi: 10.1111/imj.12520. PMID: 24989840
Özçakar ZB, Elhan AH, Yalçınkaya F
Rheumatology (Oxford) 2014 Oct;53(10):1767-72. Epub 2014 Apr 24 doi: 10.1093/rheumatology/keu138. [Epub ahead of print] PMID: 24764265
Bavbek N, Ceri M, Akdeniz D, Kargili A, Duranay M, Erdemli K, Akcay A, Guz G
Ren Fail 2014 Jun;36(5):743-7. Epub 2014 Mar 3 doi: 10.3109/0886022X.2014.886935. [Epub ahead of print] PMID: 24580410

Clinical prediction guides

Demir A, Akyüz F, Göktürk S, Evirgen S, Akyüz U, Örmeci A, Soyer Ö, Karaca C, Demir K, Gundogdu G, Güllüoğlu M, Erer B, Kamalı S, Kaymakoglu S, Besisik F, Gül A
Scand J Gastroenterol 2014 Dec;49(12):1414-8. Epub 2014 Nov 5 doi: 10.3109/00365521.2014.976838. [Epub ahead of print] PMID: 25369738
Ornek A, Kurucay M, Henning BF, Pagonas N, Schlottmann R, Schmidt WE, Giese A
J Ultrasound Med 2014 Nov;33(11):1991-7. doi: 10.7863/ultra.33.11.1991. PMID: 25336487
Matsumoto S, Urayoshi S, Yoshida Y
BMC Res Notes 2014 Sep 27;7:678. doi: 10.1186/1756-0500-7-678. [Epub ahead of print] PMID: 25261084Free PMC Article
Bashardoust B, Maleki N
Intern Med J 2014 Nov;44(11):1128-33. doi: 10.1111/imj.12520. PMID: 24989840
Moradian MM, Sarkisian T, Amaryan G, Hayrapetyan H, Yeghiazaryan A, Davidian N, Avanesian N
Genet Med 2014 Mar;16(3):258-63. Epub 2013 Aug 1 doi: 10.1038/gim.2013.112. [Epub ahead of print] PMID: 23907647

Recent systematic reviews

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. [Epub ahead of print] PMID: 25628446
Ozen S, Demirkaya E, Duzova A, Erdogan O, Erken E, Gul A, Kasapcopur O, Kasifoglu T, Kisacik B, Ozdogan H, Tunca M, Acikel C; FMF Arthritis Vasculitis and Orphan disease Research in pediatric rheumatology (FAVOR) and Turkish FMF study group
Ann Rheum Dis 2014 May;73(5):897-901. Epub 2014 Feb 25 doi: 10.1136/annrheumdis-2013-204719. [Epub ahead of print] PMID: 24570027
Portincasa P, Scaccianoce G, Palasciano G
Eur J Clin Invest 2013 Dec;43(12):1314-27. Epub 2013 Oct 14 doi: 10.1111/eci.12170. [Epub ahead of print] PMID: 24117178
Eisenstein EM, Berkun Y, Ben-Chetrit E
Clin Exp Rheumatol 2013 May-Jun;31(3 Suppl 77):103-7. Epub 2013 Sep 9 [Epub ahead of print] PMID: 24064023
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. [Epub ahead of print] PMID: 23742958

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