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Betegségjelentés · Immunological

Familial Mediterranean Fever

Whole genome sequencing identifies the specific MEFV variant driving autoinflammatory attacks, enabling targeted colchicine therapy and long-term organ protection.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

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A(z) condition ismertetése

An inherited autoinflammatory disease, mostly caused by variants in the MEFV gene. It causes recurrent episodes of fever with painful inflammation of the abdomen, chest or joints, and can lead to amyloidosis if untreated.

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder caused by MEFV mutations, which encode pyrin, a key regulator of IL-1β secretion in the inflammasome complex. Loss-of-function or dysregulated MEFV variants cause excessive inflammasome activation and IL-1β overproduction, driving recurrent inflammatory attacks characterized by fever, severe abdominal pain, chest pain, and arthralgia lasting 24-72 hours. Between attacks, patients are typically asymptomatic. The most serious long-term consequence is amyloidosis (AA type), which develops in 40-75% of untreated patients within 20-30 years, leading to progressive kidney failure, the primary cause of death in FMF prior to the colchicine era.

FMF prevalence is highly ethnically stratified, reflecting founder mutation effects in isolated populations. Approximately 1 in 500 individuals in Armenian populations, 1 in 1,000 in Turkish populations, and elevated prevalence in Sephardic Jewish and Arab populations. Over 380 MEFV variants have been identified, with five common founder variants (M694V, M680I, M694I, V726A, and E148Q) accounting for approximately 85% of pathogenic alleles worldwide. These founder variants show pronounced geographic clustering. Most patients are compound heterozygotes carrying two different mutant alleles. Symptom onset typically occurs before age 20, with 90% of patients experiencing their first attack by age 30.

A confirmed MEFV pathogenic variant diagnosis is transformative. Colchicine (0.6 mg daily or twice daily) prevents greater than 90% of attacks and eliminates amyloidosis risk entirely. Untreated FMF leads to amyloidosis and renal failure in 40-75% of patients within 20-30 years. Approximately 5-10% of patients are colchicine-resistant; these patients respond to IL-1 inhibitors (anakinra, canakinumab) that block the inflammatory cascade at the cytokine level. Genetic diagnosis enables cascade screening of family members, particularly critical in founder populations where additional affected relatives are highly likely. Carrier identification is important for reproductive planning; homozygotes born to two carrier parents will develop FMF unless treated. Early diagnosis and initiation of colchicine in childhood completely prevents morbidity.

A vizsgált betegség

An autoinflammatory disorder caused by MEFV variants, with recurrent fever and serositis and a risk of AA amyloidosis.

Mit változtat a diagnózis

Colchicine prophylaxis, IL-1 inhibitors (anakinra, canakinumab), dietary management

Vizsgált gének

Más néven

benign paroxysmal peritonitis; benign recurrent polyserositis; familial paroxysmal polyserositis; Fiebre mediterránea familiar; FMF; periodic disease

2 kapcsolódó altípust tartalmaz ↓
  • autosomal recessive familial Mediterranean fever
  • familial Mediterranean fever, autosomal dominant
MONDO:0018088Orphanet 342MedGen 45811

Miért a teljes genom szekvenálás

FMF is not included in broad genetic panels. Over 380 MEFV variants exist, many population-specific and easy to miss without targeted testing.

FMF requires targeted MEFV screening that most panels don't include

Familial Mediterranean Fever is rarely detected by broad genetic panels because targeted MEFV testing is not standard. The variant landscape is highly diverse: over 380 distinct MEFV mutations exist, with approximately 85% accounted for by five common founder variants that show pronounced geographic clustering. Many additional rare variants exist in non-founder populations. Standard targeted MEFV testing often focuses only on the five most common variants, potentially missing rarer alleles in diverse populations. A negative result does not exclude FMF if clinical suspicion remains high. Whole genome sequencing provides complete MEFV coverage and simultaneous evaluation of other autoinflammatory genes.

A genetic diagnosis unlocks treatment that prevents kidney failure entirely

Once MEFV variants are identified, treatment response is dramatic and life-altering. Colchicine (0.6 mg daily or twice daily) prevents greater than 90% of inflammatory attacks and eliminates amyloidosis risk; untreated FMF leads to amyloidosis and renal failure in 40-75% of patients. Approximately 5-10% of colchicine-resistant patients respond to IL-1 inhibitors. The genetic diagnosis enables cascade screening of family members, particularly important in founder populations. Asymptomatic siblings should begin prophylactic therapy immediately upon identification.

További immunological conditions

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Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

449 $-tól

Ingyenes szállítás · Eredmények 6–8 hét alatt

Kérem a Genome Testemet