Rare Diseases Symptoms Automatic Extraction

The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis.

[familial mediterranean fever]

Familial Mediterranean fever (FMF) is a genetic disease with autosomal inheritance characterized by recurrent fever, abdominal pain, and serositis attacks. It is relatively common in the races and ethnical groups around Mediterranean Sea (Sephardic Jews, Armenians, Turks and Arabians). Hereditary elliptocytosis (HE) is common genetic defect of the red blood cell membrane skeleton. Spectrin mutations are the predominant causes of HE. Hypereosinophilia is defined as a number of eosinophil granulocytes equal or greater than 0.5 × 10(9)/L of circulating blood. The main causes are allergies and parasitic infections. This case report describes a Turkish female HE patient who presented with FMF and hypereosinophilia. Genetic analysis revealed heterozygous mutation in exon 10 of the MEFV gene (V726A). The patient was successfully treated with colchicine and steroid treatment at 3-month follow-up. To the best of our knowledge, this is the first report of association between FMF, HE, and hypereosinophilia.

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