Diagnosis and management of hereditary haemochromatosis.
نویسندگان
چکیده
Maastricht University, School for Public Health and Primary Care (CAPHRI), Department of General Practice, 6200 MD Maastricht, Netherlands Department of Internal Medicine and Gastroenterology, Atrium Medisch Centrum Parkstad, 6401 CX Heerlen, Netherlands Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands Correspondence to: M A van Bokhoven loes.vanbokhoven@hag. unimaas.nl
منابع مشابه
Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal...
متن کاملA PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
Hereditary haemochromatosis is a common genetic disorder that causes hyperabsorption of dietary iron, leading to increased deposition and various organic diseases. Early diagnosis is important if effective treatment is to be applied and the iron overload corrected before the onset of clinical symptoms. Recently, a candidate gene has been identified in which a single point mutation shows a very ...
متن کاملHaemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies.
OBJECTIVES To examine demographic and clinical features leading to the diagnosis of hereditary haemochromatosis and assess factors that might enhance earlier diagnosis, with particular attention to arthritic symptoms. METHOD Diagnostic features were captured directly from patients with haemochromatosis attending a specialist rheumatology clinic (group 1) and from analysis of a specifically de...
متن کاملHaemochromatosis presenting as congestive cardiomyopathy and responding to venesection.
A case of primary haemochromatosis presenting as an obscure congestive cardiomyopathy in a young man is described. No other clinical evidence of haemochromatosis was present. Substantial improvement followed venesection. The cardiac manifestations of haemochromatosis are reviewed. It is suggested that the diagnosis must be excluded in any male patient with cardiac disease of undetermined aetiol...
متن کاملA pigmented octogenarian.
An 81-year-old woman presented with cachexia, malaise, deranged liver function tests (LFTs), hepatomegaly and hyperpigmentation. Hereditary haemochromatosis (HH) was ultimately diagnosed on genetic testing. Haemochromatosis is a difficult diagnosis in older people because not only are the symptoms protean and occur commonly in other geriatric conditions, but HH is also considered an unlikely ne...
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ورودعنوان ژورنال:
- The British journal of general practice : the journal of the Royal College of General Practitioners
دوره 63 611 شماره
صفحات -
تاریخ انتشار 2011