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Familial Mediterranean fever

Familial Mediterranean fever is a hereditary disorder caused by mutations of the MEFV gene (in exon 10). Mode of inheritance is autosomal dominant as well as recessive. In those cases in which only one missense mutation in exon 10 was identified and also a modifying missense variant in exon 3, 5, and 8 ruled out a contribution of mutations in other genes or somatic mutations are discussed. Clinically the disease is characterized by recurrend inflammation (polyserositis) and progressive amyloidosis accompaied by progressive renal failure.

Classification

Clnically two types can be distinguished. Typ 1 is characterized by inflammatory bursts with serositis while type 2 is merely domiated by chronic damage due to amyloidosis.

Management

The treatement is with anti-inflammatory drugs. While colchicine is used to prevent attacks, NSAR are better to treat akute exacerbations.

Symptoms

Inflammation
Inflammation is predominantly a recurring serositis.

Systematic

Pyrin-associated autoinflammatory disease
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
MEFV
SAA1
TNFRSF1A

References:

1.

Barakat MH et al. (1984) Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever.

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2.

Pras M et al. (1982) Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups.

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3.

None (1983) Enrollment bias and variation in clinical manifestations: a review of consecutive cases of familial paroxysmal polyserositis.

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4.

Schwabe AD et al. (1984) C5a-inhibitor deficiency--a role in familial Mediterranean fever?

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5.

Matzner Y et al. (1984) C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever.

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6.

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7.

Agmon D et al. () Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial Mediterranean fever.

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8.

Matzner Y et al. (1984) Diminished activity of a chemotactic inhibitor in synovial fluids from patients with familial Mediterranean fever.

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9.

Ilfeld D et al. (1982) Correction of a suppressor cell deficiency in four patients with familial Mediterranean fever by in vitro or in vivo colchicine.

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11.

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12.

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13.

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16.

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None (1972) Colchicine for familial Mediterranean fever.

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21.

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22.

Rubinger D et al. (1979) Amelioration of familial Mediterranean fever during hemodialysis.

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23.

Ben-Chetrit E et al. (1996) Colchicine in breast milk of patients with familial Mediterranean fever.

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24.

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26.

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27.

Akarsu AN et al. (1997) Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.

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Ravid M et al. (1977) Prolonged colchicine treatment in four patients with amyloidosis.

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29.

Sood R et al. (1997) Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.

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None (1996) Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium.

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34.

Mansfield E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

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41.

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42.

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43.

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45.

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46.

None (1964) FAMILIAL PAROXYSMAL POLYSEROSITIS. ANALYSIS OF FIFTY CASES.

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47.

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48.

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49.

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50.

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51.

None (2003) Should patients with FMF undergo BMT?

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52.

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53.

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54.

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61.

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62.

Yuval Y et al. (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF).

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63.

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67.

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Jones MB et al. (1977) Amyloidosis in a renal allograft in familial Mediterranean fever.

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71.

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72.

Benson MD et al. (1977) Amyloid deposition in a renal transplant in familial Mediterranean fever.

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Schwabe AD et al. (1988) Meningitis in familial Mediterranean fever.

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74.

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75.

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76.

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77.

Shohat M et al. (1989) Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?

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78.

Ayesh SK et al. (1990) Partial characterization of a C5a-inhibitor in peritoneal fluid.

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79.

Lazarin GA et al. (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

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80.

Shohat T et al. (1990) Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians.

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81.

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82.

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83.

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84.

Touitou I et al. (2007) Transmission of familial Mediterranean fever mutations following bone marrow transplantation.

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85.

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86.

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87.

OMIM.ORG article

Omim 249100 external link
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Orphanet article

Orphanet ID 342 external link
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Wikipedia article

Wikipedia EN (Familial_Mediterranean_fever) external link
Update: Aug. 14, 2020
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