CLINICAL SPECTRUM OF FAMILIAL HIBERNIAN FEVER - A 14-YEAR FOLLOW-UP-STUDY OF THE INDEX CASE AND EXTENDED FAMILY

Objective: To determine the clinical spectrum and natural history of t he disease ''familial Hibernian fever'' (FHF). Design: We ascertained the disease status in all 54 living members and 9 deceased members of the extended family and conducted a detailed study of those affected. Material and Methods: All family members with FHF were clinically asse ssed and investigated fully, including human leukocyte antigen (HLA) t yping. Medical records were studied for relevant clinical features, dr ug therapy, and complications. All previously obtained histologic spec imens were reviewed. Three typical case histories are presented. Resul ts: The updated family tree confirmed an autosomal dominant mode of in heritance in 16 living members with FHF. In addition to the febrile at tacks, abdominal pain and localized myalgias were almost invariably pr esent. Episodic erythematous patches, conjunctivitis, and unilateral p eriorbital edema were also notable features. Of 10 affected male famil y members, 8 had inguinal hernias (in comparison with 1 of 21 unaffect ed male family members). No association with HLA status was noted. Sec ondary amyloidosis was found in one affected member. Conclusion: The c haracteristic clinical features and natural history of FHF distinguish it from other periodic fever syndromes. The discovery of amyloidosis related to FHF alters the prognosis associated with this condition and emphasizes the need to search for effective treatment strategies. The high prevalence of inguinal herniation may provide clues about its pa thogenesis.