OBJECTIVE: To determine the clinical spectrum and natural history of the 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 assessed and investigated fully, including human leukocyte antigen (HLA) typing. Medical records were studied for relevant clinical features, drug therapy, and complications. All previously obtained histologic specimens were reviewed. Three typical case histories are presented. RESULTS: The updated family tree confirmed an autosomal dominant mode of inheritance in 16 living members with FHF. In addition to the febrile attacks, abdominal pain and localized myalgias were almost invariably present. Episodic erythematous patches, conjunctivitis, and unilateral periorbital edema were also notable features. Of 10 affected male family members, 8 had inguinal hernias (in comparison with 1 of 21 unaffected male family members). No association with HLA status was noted. Secondary amyloidosis was found in one affected member. CONCLUSION: The characteristic 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 pathogenesis.
OBJECTIVE: To determine the clinical spectrum and natural history of the 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 assessed and investigated fully, including human leukocyte antigen (HLA) typing. Medical records were studied for relevant clinical features, drug therapy, and complications. All previously obtained histologic specimens were reviewed. Three typical case histories are presented. RESULTS: The updated family tree confirmed an autosomal dominant mode of inheritance in 16 living members with FHF. In addition to the febrile attacks, abdominal pain and localized myalgias were almost invariably present. Episodic erythematous patches, conjunctivitis, and unilateral periorbital edema were also notable features. Of 10 affected male family members, 8 had inguinal hernias (in comparison with 1 of 21 unaffected male family members). No association with HLA status was noted. Secondary amyloidosis was found in one affected member. CONCLUSION: The characteristic 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 pathogenesis.
Authors: L Cuisset; J P Drenth; J M Berthelot; A Meyrier; G Vaudour; R A Watts; D G Scott; A Nicholls; S Pavek; C Vasseur; J S Beckmann; M Delpech; G Grateau Journal: Am J Hum Genet Date: 1999-10 Impact factor: 11.025
Authors: I Aksentijevich; J Galon; M Soares; E Mansfield; K Hull; H H Oh; R Goldbach-Mansky; J Dean; B Athreya; A J Reginato; M Henrickson; B Pons-Estel; J J O'Shea; D L Kastner Journal: Am J Hum Genet Date: 2001-07-06 Impact factor: 11.025
Authors: M F McDermott; B W Ogunkolade; E M McDermott; L C Jones; Y Wan; K A Quane; J McCarthy; M Phelan; M G Molloy; R J Powell; C I Amos; G A Hitman Journal: Am J Hum Genet Date: 1998-06 Impact factor: 11.025
Authors: Ian Todd; Paul M Radford; Kelly-Ann Draper-Morgan; Richard McIntosh; Susan Bainbridge; Peter Dickinson; Lama Jamhawi; Marios Sansaridis; Mary L Huggins; Patrick J Tighe; Richard J Powell Journal: Immunology Date: 2004-09 Impact factor: 7.397