What is Hemochromatosis?
Hemochromatosis is the most common form of iron overload disease.
Hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance.
Hemochromatosis type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) are adult-onset disorders. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.
Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may begin to appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or sex hormone deficiency symptoms such as impotence. If the disorder is untreated, heart disease is evident by age 30.
Onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms generally begin before age 30.generally begin before age 30.
In rare cases, iron overload begins before birth. These cases are called neonatal hemochromatosis. This type of hemochromatosis progresses rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. The neonatal form causes rapid iron buildup in a baby’s liver that can lead to death.
Symptoms
Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed.
If the disease is not detected and treated early, iron may accumulate in body tissues and eventually lead to serious problems such as:
- arthritis
- liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
- damage to the pancreas, possibly causing diabetes
- heart abnormalities, such as irregular heart rhythms or congestive heart failure
- impotence
- early menopause
- abnormal pigmentation of the skin, making it look gray or bronze
- thyroid deficiency
- damage to the adrenal glands
Diagnosis
A thorough medical history, physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms.
Hemochromatosis is considered rare and doctors may not think to test for it. Thus, the disease is often not diagnosed or treated. Doctors also may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.
How to Treat Hemochromatosis
The first step is to rid the body of excess iron. This process is called phlebotomy, which means removing blood the same way it is drawn from donors at blood banks. Based on the severity of the iron overload, a pint of blood will be taken once or twice a week for several months to a year, and occasionally longer.
People with hemochromatosis should not take iron or vitamin C supplements. And those who have liver damage should not consume alcoholic beverages or raw seafood because they may further damage the liver.
Treatment cannot cure the conditions associated with established hemochromatosis, but it will help most of them improve. The main exception is arthritis, which does not improve even after excess iron is removed.
Who Treats Hemochromatosis
At Hopkins Children’s, the Pediatric Liver Center treats Hemochromatosis.