Hemochromatosis

Hemochromatosis

Key Points
Genetic condition, commonly known as bronze diabetes
Condition results from genetic mutations which cause the body to overabsorb iron, the excess of which is deposited in the organs
Primarily affects the liver, as well as the pancreas, heart, endocrine glands, and joints
Cutaneous symptoms consist of an increase in skin Pigmentation to slate grey or brown/bronze color, scaling, thinning and potential body hair loss

Hemochromatosis is a genetic condition, commonly referred to as bronze diabetes. The condition causes the body to absorb excessive amounts of iron. Unlike the normal body process, the excess iron is not eliminated through waste, but deposited in the organs, most often the liver, but sometimes in the heart, pancreas, endocrine glands, or joints. The primary cutaneous symptom is an increase in skin pigmentation, to a slate grey or brown/bronze color. This will most often occur in areas which are subject to sun exposure. Hyperpigmentation may be accompanied by scaling, thinning of the skin, and potential body Hair loss, often in the pubic area. Additionally, affected persons may experience koilonychias (thinning and inward spooning type reshaping of the nails). Other areas of the body will be affected by iron deposition as well, and may result in enlargement of the liver (which can lead to cirrhosis or liver failure), diabetes mellitus, cardiomyopathy, reproductive and sexual issues, and general malaise. Symptoms typically develop over time as iron builds up in the system.

Hemochromatosis is caused by a genetic mutation. Persons who receive the defective gene from both parents will develop hemochromatosis, while those who receive the gene from one parent become carries who can pass the gene to their own children. Additionally, persons affected by porphyria cutanea tarda may carry the gene mutation. The condition is quite common in whites, with one in ten persons carrying one mutated gene.

Differential Diagnosis (Other conditions with similar appearance)
Hemolytic Anemia
Thalassemia, Beta
Biliary cirrhosis

Diagnosis
Key Points
Initial diagnosis is based on clinical presentation of symptoms in conjunction with family history
Genetic tests will be performed to confirm diagnosis
Blood and serum tests will be performed to determine the extent of the condition

Treatment
Treatment typically consists of removal of iron in the blood by venesection therapy
Goal of treatment is to return iron levels to normal and maintain those levels
Early detection is key to preventing permanent damage

Treatment of hemochromatosis is typically accomplished by removing excess iron from the blood through a process called venesection therapy. This involves the removal of blood on a scheduled basis, as frequently as once per week in severe cases. Regular venesection will be performed until iron levels return to normal, and lifelong treatments will be required to maintain normal levels. Early detection is extremely important to prevent permanent complication resulting from the condition. Dietary measures, while not a cure, may also help in alleviating symptoms, including reduction of alcohol intake, red meat intake, and avoiding the use of vitamin supplements.