Hemochromatosis is a hereditary disease. It is characterized by excessive absorption of dietary iron. As a result the amount of total body iron stores pathologically increases. Animals and humans cannot excrete excess iron, that’s why it accumulates in body organs and tissues preventing their normal function.
According to our Medicure experts; among the most sensitive to hemochromatosis organs there are adrenal glands, liver, joints, heart, gonads, pancreas and skin. Patients can suffer from adrenal insufficiency, polyarthropathy, cirrhosis, diabetes and heart failure.
disease is more common among Northern European ancestry, specifically among
people of Celtic descent. Hemochromatosis develops as autosomal recessive pattern that means both copies
of the gene in each cell have mutations.
Symptoms and Signs
Very often Haemochromatosis is presenting with symptoms and signs of other diseases that negatively affect specific organs. The symptoms below are mostly uncommon; based from Medicure Researched as patients with haemochromatosis neither suffer from premature morbidity, nor show any overt signs of disease.
So, below you can find the most common manifestations:
- Pone and joint pain
- Cirrhosis (Liver disease is usually preceded by the fact of liver disfunction such as asterixis, clubbing of the fingers, hepatomegaly, spider naevi, leuconychia and other)
- Resistance to Insulin caused by pancreatic damage from iron deposition
- Hypogonadism and erectile dysfunction leading to decreased libido.
- Pericarditis, heart failure and arrhythmias
- Adrenal gland damage causing adrenal insufficiency
- Arthritis of the hands (most often the 2nd and the 3rd MCP joints), shoulder, and knee joints
usually diagnosed after their fifties, whereas women several decades later
(females regularly lose iron through menstruation, but stop losing it during
menopause). The severity of symptoms varies from person to person. It is
considered that haemochromatosis
patients affected with alcoholic liver disease or hepatitis suffer worse than
those with either condition alone.
First, the patients can complain on diabetes, arthropathy with stiff joints, or fatigue. But the main diagnosis includes blood screening, which shows whether there is elevation of the transferrin saturation or elevated serum liver enzymes.
Early diagnosis is
essential. Treated on time you can prevent the late effects of iron
accumulation. The doctor will start treatment once ferritin levels will
increase up to 300 nanograms/ml (or