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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
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
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:
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
Inflammation of the sac-like covering around the heart (pericardium).
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
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
Enlargement of the spleen.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. . Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if. - You have abdominal pain that is sudden and sharp. -You also have pain in your chest, neck or shoulder . - You're vomiting blood or have blood in your stool . - Your abdomen is stiff, hard and tender to touch . -You can't move your bowels, especially if you're also vomiting .
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Meningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis. You get it when a virus enters the body through the nose or mouth and travels to the brain. Bacterial meningitis is rare, but can be deadly. It usually starts with bacteria that cause a cold-like infection. It can cause stroke, hearing loss, and brain damage. It can also harm other organs. Pneumococcal infections and meningococcal infections are the most common causes of bacterial meningitis. Anyone can get meningitis, but it is more common in people with weak immune systems. Meningitis can get serious very quickly. You should get medical care right away if you have. -A sudden high fever . -A severe headache . -A stiff neck . -Nausea or vomiting. Early treatment can help prevent serious problems, including death. Tests to diagnose meningitis include blood tests, imaging tests, and a spinal tap to test cerebrospinal fluid. Antibiotics can treat bacterial meningitis. Antiviral medicines may help some types of viral meningitis. Other medicines can help treat symptoms. There are vaccines to prevent some of the bacterial infections that cause meningitis. NIH: National Institute of Neurological Disorders and Stroke.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Pathologic Function
An abnormal increase in the number of leukocytes in the blood.
Pleuritis
MedGen UID:
10807
Concept ID:
C0032231
Disease or Syndrome
Inflammation of the pleura.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
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:
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.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Pathologic Function
An abnormal increase in the number of leukocytes in the blood.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Meningitis is inflammation of the thin tissue that surrounds the brain and spinal cord, called the meninges. There are several types of meningitis. The most common is viral meningitis. You get it when a virus enters the body through the nose or mouth and travels to the brain. Bacterial meningitis is rare, but can be deadly. It usually starts with bacteria that cause a cold-like infection. It can cause stroke, hearing loss, and brain damage. It can also harm other organs. Pneumococcal infections and meningococcal infections are the most common causes of bacterial meningitis. Anyone can get meningitis, but it is more common in people with weak immune systems. Meningitis can get serious very quickly. You should get medical care right away if you have. -A sudden high fever . -A severe headache . -A stiff neck . -Nausea or vomiting. Early treatment can help prevent serious problems, including death. Tests to diagnose meningitis include blood tests, imaging tests, and a spinal tap to test cerebrospinal fluid. Antibiotics can treat bacterial meningitis. Antiviral medicines may help some types of viral meningitis. Other medicines can help treat symptoms. There are vaccines to prevent some of the bacterial infections that cause meningitis. NIH: National Institute of Neurological Disorders and Stroke.
Pericarditis
MedGen UID:
18377
Concept ID:
C0031046
Disease or Syndrome
Inflammation of the sac-like covering around the heart (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
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
Periodic (episodic or recurrent) bouts of fever.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. Types of arthritis include. -Osteoarthritis is the most common type of arthritis. It's often related to aging or to an injury. -Autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. Rheumatoid arthritis is the most common form of this kind of arthritis. -Juvenile arthritis is a type of arthritis that happens in children. -Infectious arthritis is an infection that has spread from another part of the body to the joint. -Psoriatic arthritis affects people with psoriasis. -Gout is a painful type of arthritis that happens when too much uric acid builds up in the body. It often starts in the big toe. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.

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

Doğan HO, Omma A, Turhan T, Boğdaycıoğlu N, Karaaslan Y, Yavuz H, Demirpençe Ö, Aydın H, Bakır S
J Korean Med Sci 2016 Dec;31(12):1902-1906. doi: 10.3346/jkms.2016.31.12.1902. PMID: 27822927Free PMC Article
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
Demirkaya E, Saglam C, Turker T, Koné-Paut I, Woo P, Doglio M, Amaryan G, Frenkel J, Uziel Y, Insalaco A, Cantarini L, Hofer M, Boiu S, Duzova A, Modesto C, Bryant A, Rigante D, Papadopoulou-Alataki E, Guillaume-Czitrom S, Kuemmerle-Deschner J, Neven B, Lachmann H, Martini A, Ruperto N, Gattorno M, Ozen S; Paediatric Rheumatology International Trials Organisations (PRINTO).; Eurofever Project.
J Rheumatol 2016 Jan;43(1):154-60. Epub 2015 Nov 15 doi: 10.3899/jrheum.141249. PMID: 26568587
Işikay S, Işikay N, Kocamaz H
Arq Gastroenterol 2015 Jan-Mar;52(1):55-8. doi: 10.1590/S0004-28032015000100012. PMID: 26017084
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

Diagnosis

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
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
Işikay S, Işikay N, Kocamaz H
Arq Gastroenterol 2015 Jan-Mar;52(1):55-8. doi: 10.1590/S0004-28032015000100012. PMID: 26017084
Ozen S, Batu ED
Semin Immunopathol 2015 Jul;37(4):363-9. Epub 2015 Apr 2 doi: 10.1007/s00281-015-0484-6. PMID: 25832989
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

Therapy

Doğan HO, Omma A, Turhan T, Boğdaycıoğlu N, Karaaslan Y, Yavuz H, Demirpençe Ö, Aydın H, Bakır S
J Korean Med Sci 2016 Dec;31(12):1902-1906. doi: 10.3346/jkms.2016.31.12.1902. PMID: 27822927Free PMC Article
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
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
Abdel Halim MM, Al-Otaibi T, Donia F, Gheith O, Asif P, Nawas M, Rashad RH, Said T, Nair P, Nampoory N
Exp Clin Transplant 2015 Apr;13(2):188-92. Epub 2014 Mar 19 doi: 10.6002/ect.2013.0244. PMID: 24650330
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. PMID: 24210292

Prognosis

Canpolat M, Gumus H, Gunduz Z, Dusunsel R, Kumandas S, Bayram AK, Yel S, Poyrazoglu HG, Yilmaz K, Doganay S, Yikilmaz A, Dundar M, Per H
Neuropediatrics 2017 Apr;48(2):79-85. Epub 2016 Sep 22 doi: 10.1055/s-0036-1593374. PMID: 27656843
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
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
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. PMID: 25261084Free PMC Article

Clinical prediction guides

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
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
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. PMID: 25261084Free PMC Article
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. PMID: 23907647

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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