In hemochromatosis (theasurus synonyms: Arthritis in hemochromatosis; Arthropathy in hemochromatosis; Bronzediabetes; Ceelen-Gellerstedt syndrome; Diabetic hemochromatosis; Dietary hemosiderosis; Iron storage disease; Iron metabolism disease; Iron utilization disorder; Essential brown lung induration; Hemochromatosis; Hemochromatosis of the liver; Hemochromatosis of the myocardium; Hemosiderin deposition; Hemosiderin storage; Hemosiderosis; Hanot-Chauffard syndrome; Hereditary hemochromatosis; Pulmonary hemosiderosis; Pulmonary hemosiderotic anemia; Pigmentary cirrhosis of the liver; Plasma hemosiderosis; Primary idiopathic hemochromatosis; Pseudohemorrhagic anemia; Pulmonary idiopathic hemosiderosis; Secondary hemochromatosis; Siderophilia; Troisier-Hanot-Chauffard syndrome; Von Recklinghausen-Applebaum syndrome; ICD-10-GM E83. 1: disorders of iron metabolism) is an increased deposition of iron as a result of increased iron concentration in the blood with tissue damage. It is also called iron storage disease (siderosis).
The following forms of hemochromatosis can be distinguished:
- Congenital or hereditary hemochromatosis (HH; primary hemochromatosis) – genetic, autosomal recessive inheritance (4 (5) types are distinguished today, with type 1 (mutation in the HFE gene) being the most common in Europe: 1: 1,000).
- Acquired hemochromatosis (secondary hemochromatosis) – resulting from increased oral or parenteral iron intake, especially in the form of blood transfusions. Acquired hemochromatosis occurs in chronic anemia, congenital (congenital) anemias such as sickle cell anemia, or acquired anemias such as aplastic anemia
Hereditary hemochromatosis is one of the most common genetic disorders.
Sex ratio of hereditary hemochromatosis (type 1): males to females is 10: 1.
Peak incidence: hereditary hemochromatosis (type 1) occurs predominantly between the ages of 30 and 50.
The incidence (frequency of new cases) of hereditary hemochromatosis (type 1) is approximately1 case per 1,000 population (Caucasians/light-skinned people) per year.
Course and prognosis: Hemochromatosis is usually associated with the triad of liver disease, diabetes mellitus and hyperpigmentation. If the disease is detected early, the prognosis is good. In advanced disease, the damage, especially to the liver (cirrhosis (liver shrinkage), hepatocellular carcinoma (liver cancer)), is irreversible (reversible).
