Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more often than not, the condition is diagnosed only at autopsy.Presently, the classic triad of cirrhosis, bronze skin, and diabetes is less common because of earlier diagnosis.The more common clinical manifestations include:
Fatigue
Malaise
Joint pain (mainly knee and hand)
Abdominal pain
Bronze or gray skin color (for this the illness was named "bronze diabetes" when it was first described by Armand Trousseau in 1865)
Liver fibrosis or cirrhosis (with an increased risk of hepatocellular carcinoma): Liver disease is always preceded by evidence of liver dysfunction, including elevated serum enzymes specific to the liver, clubbing of the fingers, leuconychia, asterixis, hepatomegaly, palmar erythema, and spider naevi. Cirrhosis can also present with jaundice (yellowing of the skin) and ascites. Diabetes mellitus type 2: HH patients have insulin resistance for liver disease, and poor insulin secretion due to pancreatic damage from iron deposition.
Stages
The American Association for the Study of Liver Diseases suggests the following three stages for the condition (identified by the European Association for the Study of Liver Diseases):
Genetic susceptibility but no iron overload. Individuals who have the genetic disorder only. Iron overload but no organ or tissue damage. Organ or tissue damage as a result of iron deposition.Individuals at each stage do not necessarily progress on to the next stage, and end stage disease is more common in males. Differential diagnosis
Other causes of excess iron accumulation exist, which have to be considered before haemochromatosis type 1 is diagnosed. Haemochromatosis type 2. Haemochromatosis type 3. Haemochromatosis type 4. Haemochromatosis type 5. African iron overload, formerly known as Bantu siderosis, was first observed among people of African descent in Southern Africa. Originally, this was blamed on ungalvanised barrels used to store home-made beer, which led to increased oxidation and increased iron levels in the beer. Further investigation has shown that only some people drinking this sort of beer get iron overload syndrome, and that a similar syndrome occurred in people of African descent who have had no contact with this kind of beer (e.g., African Americans). This led investigators to the discovery of a gene polymorphism in the gene for ferroportin, which predisposes some people of African descent to iron overload. Secondary haemochromatosis: its main cause is the Transfusional haemosiderosis. It is the accumulation of iron, mainly in the liver, in patients who receive frequent blood transfusions (such as those with thalassaemia).