HEREDITARY HEMOCHROMATOSIS

Hereditary hemochromatosis is an autosomal recessive disorder, the gen e for which occurs in approximately 10% of Americans, most of whom are unaffected heterozygotes. Approximately 5/1000 white Americans are ho mozygous and at risk of developing severe and potentially lethal hemoc hromatosis. The disorder affects numerous organ systems, but the most common symptoms are fatigue, palpitations, joint pains, and impotence; the most common signs are those that relate to hypothalamic, cardiac, hepatic or pancreatic dysfunction, including poor cold tolerance, imp otence in males, amenorrhea in females, cardiac arrhythmias, dyspnea, edema, hepatosplenomegaly, spider telangiectases, ascites, deformity, swelling or limitation of motion of joints, weight loss, hyperpigmenta tion. Characteristic abnormalities of laboratory tests include elevate d serum iron concentration, high transferrin saturation, elevated seru m ferritin concentration, elevated serum transaminases, hyperglycemia and low values for thyroid-stimulating hormone (TSH) and gonadotropins . Death may be the result of cardiac arrhythmia, congestive heart fail ure, liver failure or liver cancer. Since many of these complications cannot he reversed once they have developed, early diagnosis and treat ment are essential. In view of the high prevalence in the American pop ulation (prevalence varies with ethnic background), the low cost of di agnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis a nd treatment, systematic screening for hemochromatosis is warranted fo r all persons over the age of 20 years. The initial screening should b e by measurement of serum iron concentration and transferrin saturatio n. The practice guideline provides a diagnostic algorithm for cases in which the serum transferrin saturation is 60% or greater. It also pro vides guidelines for clinical management.