BACKGROUND: Hemochromatosis, North America's most prevalent genetic disorder, tends to present with an insidious onset and subtle, yet characteristic findings. Patients tend to present with both constitutional symptoms and end-organ effects. METHODS: Clinical criteria such as history, physical examination, imaging criteria with focused radiologic constellations, and laboratory findings were used for diagnosis. RESULTS: We report the case of a man who lacked classic systemic symptoms, but instead presented with isolated metacarpophalangeal joint disease and characteristic radiologic findings. The diagnosis was confirmed by serum iron studies and subsequent genetic work-up. CONCLUSIONS: A high index of clinical suspicion is required to diagnose early disease; better prognostic responses are expected with treatment of less severe disease. Hand surgeons should be aware of the characteristic findings for this rare presentation so proper treatment can be initiated early.
BACKGROUND:Hemochromatosis, North America's most prevalent genetic disorder, tends to present with an insidious onset and subtle, yet characteristic findings. Patients tend to present with both constitutional symptoms and end-organ effects. METHODS: Clinical criteria such as history, physical examination, imaging criteria with focused radiologic constellations, and laboratory findings were used for diagnosis. RESULTS: We report the case of a man who lacked classic systemic symptoms, but instead presented with isolated metacarpophalangeal joint disease and characteristic radiologic findings. The diagnosis was confirmed by serum iron studies and subsequent genetic work-up. CONCLUSIONS: A high index of clinical suspicion is required to diagnose early disease; better prognostic responses are expected with treatment of less severe disease. Hand surgeons should be aware of the characteristic findings for this rare presentation so proper treatment can be initiated early.
Authors: Omer T Njajou; Jeanine J Houwing-Duistermaat; Richard H Osborne; Norbert Vaessen; Jeanette Vergeer; Jan Heeringa; Huibert A P Pols; Albert Hofman; Cornelia M van Duijn Journal: Eur J Hum Genet Date: 2003-03 Impact factor: 4.246
Authors: C E McLaren; G J McLachlan; J W Halliday; S I Webb; B A Leggett; E C Jazwinska; D H Crawford; V R Gordeuk; G D McLaren; L W Powell Journal: Gastroenterology Date: 1998-03 Impact factor: 22.682
Authors: James M Ross; Roman M Kowalchuk; Jennifer Shaulinsky; Lori Ross; Daniel Ryan; Pradyumna D Phatak Journal: J Rheumatol Date: 2003-01 Impact factor: 4.666