Autosomal dominant familial Mediterranean feverlike syndrome

• Published in: European journal of pediatrics Vol. 155; no. 9; pp. 787 - 790
• Main Authors: Mache, C. J., Goriup, U., Fischel-Ghodsian, N., Chen, X., Schwingshandl, J.
• Format: Journal Article
• Language: English
• Published: Berlin Springer Nature B.V 01.09.1996
• Subjects: Abdomen; Age; Arthritis; Biopsy; Chromosome 16; Familial Mediterranean fever; Families & family life; Fever; Inflammatory bowel disease; Laboratories; Minority & ethnic groups; Pain; Patients; Peritonitis; Serositis; Urine
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/BF02002908

We report a syndrome characterized by recurrent episodes of fever and serositis in an Austrian family. Three family members over two successive generations were affected. The febrile episodes had their onset at the age of 11-12 years, lasted 1-5 weeks, and occurred in intervals of 6-24 months. While the disorder resembles familial Mediterranean fever (FMF) clinically, ethnic distribution and other features suggest a distinct entity. Clinically, the attacks last longer than the usual FMF attacks, and in the male patients are associated with scrotal inflammation. Genetically, the disorder appears to be inherited as an autosomal dominant syndrome, whereas FMF is autosomal recessive. Molecular analysis made the involvement of a gene in the FMF region of chromosome 16p 13.3 highly unlikely. An Austrian family with recurrent fever syndrome is reported. Ethnicity, clinical features, and molecular studies point to a distinct clinical entlty.