[Familial Mediterranean fever: a report of 2 cases of Italian origin]. / Febbre mediterranea familiare: descrizione di due casi di origine italiana.

ABSTRACT

Familial Mediterranean fever is an inherited disease, occurring almost exclusively in Arabs, Jews and Turks. Cases are very rarely described in the USA, USSR, France, and patients are all natives to the Mediterranean area. This paper describes two cases of familial Mediterranean fever in brothers native to Campania, Italy. Both had complained of repeated episodes of fever, with acute abdomen, thoracalgia and arthralgia since the age of about 20. One of them had had pleuritis when he was 6 years old. In the period preceding our first observation, both underwent laparotomy to evaluate abdominal symptoms, with negative results. After ruling out other diseases with similar signs and symptoms, we raised the hypothesis of familial Mediterranean fever, despite the fact that the literature has described very few Italian natives affected by this disease. The diagnostic hypothesis was confirmed by the positivity of the metaraminol provocation test. At the same time we evaluated the presence of amyloidosis by rectal biopsy, with negative results. Treatment with colchicine 1 mg/day per os was established. Dramatic improvement of the symptoms was observed in both patients. The present paper stresses the importance of familial Mediterranean fever, its correct diagnosis in Italy and the fundamental role played by the metaraminol provocation test as a determinant diagnostic tool. It allows establishment of appropriate treatment as soon as possible, so that renal amyloidosis, the most severe complication and major prognostic determinant of familial Mediterranean fever, can be prevented. Inappropriate, useless and potentially harmful surgical diagnostic procedures are also avoided.