ESPE Abstracts

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by recurrent attacks of fever, polyserositis, abdominal, thoracic, articular pain, fatigue, rash, oral aphthae, myalgia, etc. Some young girls suffer of oligomenorrhea or amenorrhea, especially in cases of unsatisfactory control of chronic inflammation. Treatment is based on colchicine and, in non-responders, anti-IL-1 biological drugs.

Materials and methods: We describe the case of two sisters, 16 and 18 years-old, affected by FMF (hererozygous MEFV gene mutation: A744S), with a limited number of attacks characterized by fever, abdominal pain, oral aphthae. Both showed a persistent increase of serum amyloid A (SAA) (> 13 mg/l) in the attacks-free intervals. Treatment with colchicine was followed by a rapid SAA level normalization. Following the well-being status, the patients decided to stop colchicine treatment. In the following years, both showed a persistent increase of SAA levels, with oligomenorrhea and anovulatory menses, with increased LH/FSH ratio. They started again the treatment with colchicine (1 mg/day), with the reduction and normalization of SAA levels and the recovery of menses cycles within 6 months.

Conclusions: FMF can interfere with the gonadic function, compromising hypothalamic-hypophyseal-gonadic axis. The pathogenesis is linked to chronic subclinical inflammation and treatment with colchicine can normalize SAA, with the improvement of gonadic function. We highlight the importance of endocrine follow-up in patients with autoinflammatory syndromes, as FMF, to prevent gonadic impairment and infertility.