Changing concepts in haemochromatosis.

Are Concepts About Constipation and Dietary Fiber Changing?

A pathological study of idiopathic haemochromatosis and its relationship to siderosis in liver cirrhosis.

HAEMOCHROMATOSIS refers to a general increase in body iron stores with tissue damage. The pathological criteria used for the diagnosis of haemochromatosis were those proposed by MacDonald and Mallory (1960). They were as follows: 1. Cirrhosis of the liver of a "portal type". 2. Excessive iron deposits in hepatic parenchymal cells, in connective tissue, and in bile duct epithelium. 3. Pancreatic...

Pseudogout, chondrocalcinosis and the early recognition of haemochromatosis.

Idiopathic haemochromatosis is a disorder which has a well-known association with chondrocalcinosis. We report arthritis associated with chondrocalcinosis as the first clinical manifestation of underlying haemochromatosis in two otherwise asymptomatic male patients. In one patient, pyrophosphate arthropathy presented with acute pseudogout. Better appreciation of this presentation will result in...

Haemochromatosis 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...

A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haemochromatosis.

Hereditary haemochromatosis is an autosomal recessive disease in which there is defective regulation of iron absorption, causing gradual accumulation of excessive amounts of iron in certain organs. Recently, a candidate gene for hereditary haemochromatosis has been identified, located on the short arm of chromosome 6, telomeric to the major histocompatibility complex (MHC) and showing sequence ...