Hemochromatosis is a disorder that interferes with iron metabolism and results in excess iron deposits throughout the body

Primary hemochromatosis is the most common genetic disorder in the US, affecting an estimated 1 of every 200-300 Americans. Similar symptoms may occur from the secondary form of hemochromatosis, which can be caused by other diseases such as thalassemia or sideroblastic anemia. Hemochromatosis may also be caused by having a large number of blood transfusions, particularly in patients who get them for inherited or pre-malignant anemias. Occasionally, it may be seen with hemolytic anemia, porphyria cutanea tarda, excessive oral iron ingestion, and chronic alcoholism.

First, excess iron accumulates in the liver and causes liver enlargement. Then, other organs are affected. The disease may lead to the development of diabetes, skin pigment changes, cardiac problems, arthritis, testicular atrophy, cirrhosis of the liver, liver cancer, hypopituitarism, chronic abdominal pain, severe fatigue, and increased risk of certain bacterial infections.

Hemochromatosis affects men five times more frequently than women. It is particularly common in Caucasians of Western European descent. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50 (although some people may develop problems by age 20). Alcoholism and a family history of hemochromatosis are risk factors.

Hereditary hemochromatosis is passed by an autosomal recessive trait on the genes. (Scientists have recently identified the precise gene.) Because of its hereditary nature, as many as 25% of the siblings of hemochromatosis patients will also develop the disorder.

The symptoms of hemochromatosis include fatigue, weight loss, weakness, shortness of breath, heart palpitations, chronic abdominal pain, and impaired sexual performance. The patient may also show symptoms commonly connected with heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may appear, such as grayness in certain areas, or a tanned or yellow (jaundice) appearance.

Idiopathic pulmonary hemosiderosis may first, and only, appear as paleness of the skin. Sometimes, the patient will experience spitting of blood from the lungs or bronchial tubes.

Diagnosis of Hemochromatosis

The most common diagnostic methods for hemochromatosis are blood tests and computed tomography scan (CT scan). In recent years, CT scans with quantitative assessment of iron concentration has almost eliminated the need for liver biopsy. Blood tests will measure excessive iron levels. Concentrations of transferrin, a protein that transports iron and liver enzymes will also be measured. Serum ferritin and iron saturation are the best screening tests. Another test that measures an iron protein complex. In some cases, DNA testing for certain indications that young siblings will develop the disease will be conducted. X-ray studies of the liver, pituitary gland, and other iron absorbing organs may reveal abnormal iron deposits. CT scans, or magnetic resonance imaging (MRI) are the exams of choice for these studies.

nce a physician has identified signs of hemochromatosis with blood tests, a liver biopsy may be necessary. This involves insertion of a thin needle into the liver while the patient is under local anesthesia. The needle will extract a small amount of liver tissue, which can be analyzed microscopically to measure its iron content and other signs of hemochromatosis. Diagnosis of idiopathic pulmonary hemosiderosis begins with blood tests and x-ray studies of the chest.

Treatment of Hemochromatosis

Patients who show signs of iron overload will often be treated with phlebotomy. Phlebotomy is a procedure that involves drawing blood from the patient, much like blood donation. Its purpose as a treatment is to rid the body of excess iron storage. Patients may need these procedures one or two times a week for a year or more. Less frequent phlebotomy may be continued in subsequent years to keep excess iron from accumulating. Patients who cannot tolerate phlebotomy due to other medical problems can be treated with Desferal (desferrioxamine). Diet restrictions may also be prescribed to limit the amount of iron ingested. Individuals who know they have the genetic makeup for hemochromatosis may postpone its onset by limiting iron intake and avoiding iron supplements. Complications from hemochromatosis, such as cirrhosis or diabetes, may also require treatment. Treatment for idiopathic pulmonary hemosiderosis is based on symptoms.

Alternative treatment of Hemochromatosis

Diet restrictions may help lower the amount of iron in the body, but may not be enough to prevent or treat hemochromatosis. Patients who know they have the hereditary markers for the disease may limit iron-rich foods such as liver, red meat and iron-fortified cereals help keep iron levels down.

Prognosis of Hemochromatosis

With early detection, the prognosis is usually good, particularly if the patient has worked aggressively to deplete iron before symptoms began. However, if left untreated, complications may arise which can be fatal. These include liver cancer, liver cirrhosis, diabetes mellitus, and failure to achieve iron depletion through phlebotomy. The prognosis for patients with idiopathic pulmonary hemosiderosis is fair, depending on detection and complications.

Prevention of Hemochromatosis

Screening for hemochromatosis has become more cost effective, particularly for certain groups of people. Relatives, especially siblings, of patients with hemochromatosis should be tested for genes that indicate predisposition to the disease. Those relatives can begin to take measures to reduce iron intake or deplete iron stores prior to onset of symptoms.