Rare Diseases Symptoms Automatic Extraction

[Familial Mediterranean fever - first experiences in Slovakia].

[familial mediterranean fever]

Familial Mediterranean fever (FMF) is the most prevalent genetically determined autoinflammatory disease. FMF significantly decreases the quality of life and limits life expectancy due to the development of amyloidosis in affected individuals. Prevalence of FMF is highest in the south-eastern Mediterraneans. In other parts of the world, its occurance is often restricted to high-risk ethnic groups. In Central Europe, experience with FMF is scarse to none, as in the case of Slovakia, where no cases have been reported, so far. Herein we report the first five patients (3 adults and 2 children, 4 native Slovaks) in whom the diagnosis of FMF could be confirmed in Slovakia. Our experience demonstrates that FMF does occur in low-risk populations in Central Europe. Due to low prevalence and lack of experience, FMF diagnosis may be significantly delayed (4.5-30 years) and undiagnosed cases are to be expected in our population.

Diseases presenting "fever" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • familial mediterranean fever
  • focal myositis
  • hodgkin lymphoma, classical
  • lamellar ichthyosis
  • legionellosis
  • locked-in syndrome
  • malignant atrophic papulosis
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

This symptom has already been validated