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{{Familial mediterranean fever}} | {{Familial mediterranean fever}} | ||
{{CMG}} | {{CMG}}; {{AE}} {{Sahar}} | ||
==Overview== | ==Overview== | ||
Familial mediterranean fever is a [[ | [[Familial mediterranean fever|Familial Mediterranean fever]], also known as periodic peritonitis or recurrent polyserositis, is a rare monogenic [[disease]] with systemic manifestation. | ||
==Historical Perspective== | |||
[[Familial mediterranean fever|Familial Mediterranean fever]] was first described in a Jewish schoolgirl by Janeway and Mosenthal in 1908. In 1955, Dr. Heller called this disorder [[Familial mediterranean fever|familial Mediterranean fever]], which refers to its high [[prevalence]] in this region and the key presenting feature of [[Familial mediterranean fever|periodic fever]]. The [[disease]] was life-threatening before the introduction of [[colchicine]] in 1972. | |||
==Classification== | |||
There is no established system for the [[classification]] of [[familial Mediterranean fever]]. However, [[familial Mediterranean fever]] may be classified according to [[Phenotype|phenotypic]] manifestation into three subtypes/groups: type 1, type 2, and type 3. | |||
==Pathophysiology== | |||
The exact [[pathogenesis]] of [[familial mediterranean fever]] is not fully understood. However, nearly all the cases are due to a [[mutation]] in the [[MEFV]] [[gene]], which codes for a [[protein]] called pyrin. Normally, pyrin regulates the production of [[Interleukin-1|interleukin-1β]] (IL-1β), an important [[pro-inflammatory]] [[cytokine]]. When [[mutation]] occurs, [[mutated]] protein is unable to suppress expression of IL-1β, therefore an inflammatory response would develop results in clinical manifestation of [[FMF]]. The [[disease]] inherits in an [[autosomal recessive]] mode. However, there is an increasing number of data reporting the [[autosomal dominant]] [[inheritance]]. | |||
==Causes== | |||
[[Familial Mediterranean fever]] is most often [[Causes|caused]] by a [[mutation]] in the [[MEFV]] [[gene]]. This [[gene]] creates [[proteins]] involved in [[inflammation]]. There are also reports of [[FMF]] cases in the absence of causative [[gene]] in the [[genetic screening]]. | |||
==Epidemiology and demographics== | |||
The [[incidence]] of [[familial mediterranean fever]] is estimated 100 per 100,000 individuals worldwide. The [[prevalence]] of [[familial mediterranean fever]] differs widely according to the geographic area. In the non- Ashkenazi Jews, it ranges from 100 to 400 per 100,000 individuals. [[Patients]] of all age groups may develop the [[Familial mediterranean fever|familial Mediterranean fever]] ([[FMF]]). However, it usually manifests during Childhood. This [[disorder]] usually affects individuals of the Turkish, Armenian, Jewish and Arabic communities. However, it is also common among western societies such as Italy, Greece, Crete, France, and Germany. | |||
==Risk factors== | |||
There are no established [[risk factors]] for [[familial Mediterranean fever]]. However, there are some factors which have been observed to [[trigger]] the attacks. | |||
==Natural history, complications and prognosis== | |||
Common [[complications]] of [[familial Mediterranean fever]] include [[amyloidosis]] and increased risk of vasculitic [[disorders]]. The [[prognosis]] does not differ from that of the general population. However, [[renal]] involvement is the determinant factor of patient [[survival rate]]. | |||
==Diagnosis== | |||
[[Familial Mediterranean fever]] is primarily [[Diagnosis|diagnosed]] based on the clinical presentation. | |||
===History and Symptoms=== | |||
The hallmark of [[familial Mediterranean fever]] is [[periodic fever]] and [[serositis]]. A positive history of [[periodic fever]] lasting 1 to 3 days and [[serositis]] is suggestive of [[FMF]]. Common [[symptoms]] of [[Familial mediterranean fever|familial Mediterranean fever]] include [[abdominal pain]], [[Periodic fever|episodic fever]], [[arthralgia]], [[chest pain]], [[myalgia]], [[vomiting]], and [[fatigue]]. | |||
==Physical examination== | |||
Common [[physical examination]] findings of [[familial Mediterranean fever]] include [[fever]], [[arthritis]], and [[skin rash]]. | |||
===Laboratory Findings=== | |||
An [[acute phase response]] is present during attacks, with high [[C-reactive protein]] levels, an elevated [[white blood cell]] count and other markers of [[inflammation]]. | |||
===Electrocardiogram=== | |||
There are no [[ECG]] findings associated with [[familial Mediterranean fever]]. | |||
An [[ECG]] may be helpful in the [[diagnosis]] of [[pericarditis]], one of the possible manifestations of [[FMF]]. Findings on an [[ECG]] suggestive of/[[diagnostic]] of [[pericarditis]] are described [[Pericarditis electrocardiogram|here]] comprehensively. | |||
===X-ray=== | |||
There are no [[x-ray]] findings associated with [[Familial mediterranean fever|familial Mediterranean fever]]. However, an [[x-ray]] may be helpful in the [[diagnosis]] of [[complications]] of the [[disease]], which include [[arthritis]], dilatation of the small bowel loops, [[splenomegaly]]. | |||
===Echocardiography and Ultrasound=== | |||
There are no [[echocardiography]]/[[ultrasound]] findings associated with [[Familial Mediterranean fever diagnostic study of choice|familial Mediterranean fever]]. However, [[echocardiography]]/[[ultrasound]] may be helpful in the [[diagnosis]] of [[complications]], including [[pericardial effusion]], [[pleural effusion]], and [[hepatosplenomegaly]]. | |||
===CT scan=== | |||
There are no [[CT scan]] findings associated with [[familial Mediterranean fever]]. However, a [[CT scan]] may be helpful in the [[diagnosis]] of [[complications]] of this [[disease]], which include [[splenomegaly]], [[hepatomegaly]], focal [[peritonitis]], and etc. | |||
===MRI=== | |||
There are no [[MRI]] findings associated with [[familial mediterranean fever]]. However, a [[MRI]] may be helpful in the evaluation of [[complications]] of this [[disease]], which include [[hepatosplenomegaly]], exertional leg pain, and specifically [[myalgia]]. | |||
===Other Imaging Findings=== | |||
There are no other imaging findings associated with [[familial mediterranean fever]]. | |||
===Other Diagnostic Studies=== | |||
A [[genetic]] test is also available now that the [[disease]] has been linked to [[mutations]] in the [[MEFV]] [[gene]]. Sequencing of [[exons]] 2, 3, 5, and 10 of this [[gene]] detects an estimated 97% of all known [[mutations]]. | |||
==Treatment== | |||
===Medical Therapy=== | |||
The mainstay of treatment for [[familial Mediterranean fever]] is medical therapy with [[colchicine]]. Exertional [[leg pain]] may be treated with [[NSAIDs]]. [[Glucocorticoids]] may be indicated in case of protracted febrile [[myalgia]]. Although there is no alternative for [[colchicine]] in case of [[colchicine]] resistance, [[IL-1]]-blockade may be useful. | |||
===Surgery=== | |||
[[Surgical]] [[intervention]] is not recommended for the [[management]] of [[familial mediterranean fever]]. However, since [[peritonitis]] is one of the most common manifestations of this [[disorder]], it should be differentiated from other possible causes requiring [[surgical]] intervention. | |||
===Primary Prevention=== | |||
There are no established measures for the primary prevention of [[familial mediterranean fever]]. | |||
===Secondary Prevention=== | |||
There are no established measures for the secondary prevention of [[familial mediterranean fever]]. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category:Arthritis]] | |||
[[Category:Rheumatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Immune system disorders]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Inborn errors of metabolism]] | |||
[[Category:Disease]] | [[Category:Disease]] | ||
Latest revision as of 03:05, 5 June 2019
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Familial Mediterranean Fever Microchapters |
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Differentiating Familial Mediterranean Fever from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Familial Mediterranean fever, also known as periodic peritonitis or recurrent polyserositis, is a rare monogenic disease with systemic manifestation.
Historical Perspective
Familial Mediterranean fever was first described in a Jewish schoolgirl by Janeway and Mosenthal in 1908. In 1955, Dr. Heller called this disorder familial Mediterranean fever, which refers to its high prevalence in this region and the key presenting feature of periodic fever. The disease was life-threatening before the introduction of colchicine in 1972.
Classification
There is no established system for the classification of familial Mediterranean fever. However, familial Mediterranean fever may be classified according to phenotypic manifestation into three subtypes/groups: type 1, type 2, and type 3.
Pathophysiology
The exact pathogenesis of familial mediterranean fever is not fully understood. However, nearly all the cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin. Normally, pyrin regulates the production of interleukin-1β (IL-1β), an important pro-inflammatory cytokine. When mutation occurs, mutated protein is unable to suppress expression of IL-1β, therefore an inflammatory response would develop results in clinical manifestation of FMF. The disease inherits in an autosomal recessive mode. However, there is an increasing number of data reporting the autosomal dominant inheritance.
Causes
Familial Mediterranean fever is most often caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation. There are also reports of FMF cases in the absence of causative gene in the genetic screening.
Epidemiology and demographics
The incidence of familial mediterranean fever is estimated 100 per 100,000 individuals worldwide. The prevalence of familial mediterranean fever differs widely according to the geographic area. In the non- Ashkenazi Jews, it ranges from 100 to 400 per 100,000 individuals. Patients of all age groups may develop the familial Mediterranean fever (FMF). However, it usually manifests during Childhood. This disorder usually affects individuals of the Turkish, Armenian, Jewish and Arabic communities. However, it is also common among western societies such as Italy, Greece, Crete, France, and Germany.
Risk factors
There are no established risk factors for familial Mediterranean fever. However, there are some factors which have been observed to trigger the attacks.
Natural history, complications and prognosis
Common complications of familial Mediterranean fever include amyloidosis and increased risk of vasculitic disorders. The prognosis does not differ from that of the general population. However, renal involvement is the determinant factor of patient survival rate.
Diagnosis
Familial Mediterranean fever is primarily diagnosed based on the clinical presentation.
History and Symptoms
The hallmark of familial Mediterranean fever is periodic fever and serositis. A positive history of periodic fever lasting 1 to 3 days and serositis is suggestive of FMF. Common symptoms of familial Mediterranean fever include abdominal pain, episodic fever, arthralgia, chest pain, myalgia, vomiting, and fatigue.
Physical examination
Common physical examination findings of familial Mediterranean fever include fever, arthritis, and skin rash.
Laboratory Findings
An acute phase response is present during attacks, with high C-reactive protein levels, an elevated white blood cell count and other markers of inflammation.
Electrocardiogram
There are no ECG findings associated with familial Mediterranean fever. An ECG may be helpful in the diagnosis of pericarditis, one of the possible manifestations of FMF. Findings on an ECG suggestive of/diagnostic of pericarditis are described here comprehensively.
X-ray
There are no x-ray findings associated with familial Mediterranean fever. However, an x-ray may be helpful in the diagnosis of complications of the disease, which include arthritis, dilatation of the small bowel loops, splenomegaly.
Echocardiography and Ultrasound
There are no echocardiography/ultrasound findings associated with familial Mediterranean fever. However, echocardiography/ultrasound may be helpful in the diagnosis of complications, including pericardial effusion, pleural effusion, and hepatosplenomegaly.
CT scan
There are no CT scan findings associated with familial Mediterranean fever. However, a CT scan may be helpful in the diagnosis of complications of this disease, which include splenomegaly, hepatomegaly, focal peritonitis, and etc.
MRI
There are no MRI findings associated with familial mediterranean fever. However, a MRI may be helpful in the evaluation of complications of this disease, which include hepatosplenomegaly, exertional leg pain, and specifically myalgia.
Other Imaging Findings
There are no other imaging findings associated with familial mediterranean fever.
Other Diagnostic Studies
A genetic test is also available now that the disease has been linked to mutations in the MEFV gene. Sequencing of exons 2, 3, 5, and 10 of this gene detects an estimated 97% of all known mutations.
Treatment
Medical Therapy
The mainstay of treatment for familial Mediterranean fever is medical therapy with colchicine. Exertional leg pain may be treated with NSAIDs. Glucocorticoids may be indicated in case of protracted febrile myalgia. Although there is no alternative for colchicine in case of colchicine resistance, IL-1-blockade may be useful.
Surgery
Surgical intervention is not recommended for the management of familial mediterranean fever. However, since peritonitis is one of the most common manifestations of this disorder, it should be differentiated from other possible causes requiring surgical intervention.
Primary Prevention
There are no established measures for the primary prevention of familial mediterranean fever.
Secondary Prevention
There are no established measures for the secondary prevention of familial mediterranean fever.