Rare Diseases Symptoms Automatic Extraction

[Familial Mediterranean fever (paroxismal polyserositis, familial recurring polyserositis, periodic disease)].

[familial mediterranean fever]

Paroxismal polyserositis is an orphan disease most often affecting Mediterranean populations. It is caused by a mutation on chromosome 16 leading to pyrine synthesis disorder. The disease has a characteristic clinical picture, the most prominent manifestation being recurrent aseptic inflammation of serous membranes especially in peritoneum, marked temperature reaction, and apparent spontaneous recovery in the attack-free period. Inadequate or excessively intense treatment may cause complication in the form of secondary amyloidosis of internal organs. The most effective therapeutic modality is daily intake of colchicine at a dose of 1-1.5 mg.

Diseases presenting "amyloidosis" symptom

  • cadasil
  • fabry disease
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • lymphangioleiomyomatosis
  • phenylketonuria
  • systemic capillary leak syndrome
  • triple a syndrome
  • waldenström macroglobulinemia

This symptom has already been validated