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HEREDITARY HEMOCHROMATOSIS
HEREDITARY HEMOCHROMATOSIS
By: Hamidreza Sanatinia, M.D.
Hereditary Hemochromatosis (HH), commonly known as iron overload disease, is a genetic condition which if left undiagnosed, and/or untreated, can be fatal. However, with an early diagnosis and proper treatment, individuals with this disorder can live a normal life span. In hemochromatosis, affected individuals absorb more iron than normal.
Statistics
The prevalence of HH in the United States is about 1:8 for carrier status (a person can carry one gene and not get the disease) and 1:300-400 for actually having full-blown HH.
Diagnosis
Early diagnosis is very important, because treatment can prevent long-term injury and damage to body organs. When there is a family history or clinical suspicion of hemochromatosis, the physician orders a number of blood tests. These laboratory tests help us identify those who have elevated iron stores:
- Serum Iron: It is a direct measurement of iron in the blood
- Serum Ferritin: It measures the amount of protein that carries iron.
- TIBC: Total Iron Binding Capacity
- Percent of Iron Saturation
A liver biopsy is then performed to determine how much iron is stored in the liver and if there has been any liver damage. Liver biopsy is done under local anesthesia. A thin needle is used to get a small piece of the liver. The liver sample is then looked at under the microscope for iron deposits and possible damage to the liver cells.
There is also a genetic test that can identify individuals who carry the gene alterations that can predispose them to hemochromatosis. It is called C282Y mutation. It describes an alteration in a gene that we think has a role in iron absorption.
Another genetic test looks for H63D mutation. This genetic alteration has also been found to cause hemochromatosis in some individuals, especially those who carry both copies of this mutation. There are probably many other alterations in individuals who have hemochromatosis but we have not yet found them. If someone has a high iron content, the lack of C282Y and H63D mutations does not rule out hemochromatosis.
Symptoms
Hemochromatosis can develop at any age, but symptoms do not occur until middle age (between the ages of 40 and 60). Women often develop the symptoms at a later age than men. This is because women lose significant amounts of iron through menstruation and pregnancy.
In this disease, excess iron is deposited in various organs and tissues, especially the liver, the heart and pancreas, causing damage to these organs. The damage comes from long-term storage of excessive iron.
COMPLICATIONS OF HEREDITARY HEMOCHROMATOSIS
The Liver
One of the first places that excess iron can deposit is the liver. This is because the liver is a place where a lot of different vitamins and mineral such as iron is usually stored. Alteration of the liver function is one of the clues to the possible presence of hemochromatosis. Liver damage could be seen in people with hemochromatosis who have not been treated. If left untreated, liver damage could lead to cirrhosis. In cirrhosis, the liver can no longer maintain the required function.
The Heart
Iron can deposit in the conduction system of the heart. It can then induce abnormal heart rhythms. These are commonly atrial tachycardia, ventricular tachycardia and ventricular premature beats.
The Endocrine System and Pancreas
Excess iron can deposit in the pituitary gland. Pituitary gland makes many hormones involved in sexual funcion. Impotenceand decreased libido as well as a decrease in body hair can be seen in some patients. There is also a high association of pituitary dysfunction and osteoporosis, a condition where the bones become very weak. Excess iron can also deposit in the pancreas. Pancreas is involved in sugar metabolism. Damge to the pancreas can result in sugar diabetes.
The Musculoskeletal System
Arthritis of the joints and bones occurs in up to 50 percent of patients with hereditary hemochromatosis. Arthritis can start early on in the disease. It usually involves the joints of the fingers, knees, back and some times the neck.
Skin
A bronze type of discoloration can occur late in the disease. The discoloration is because of excess iron deposition and increased melanin.
The Immune System
Patients with iron overload are susceptible to bacterial infections. Some unusual bacterial infections such as Vibrio and Yersinia are seen in patients with hereditary hemochromatosis.
Hepatocellular Carcinoma
Because of liver damage, patients can develop cirrhosis of the liver. In those patients who have cirrhosis, the incidence of hepatocellular carcinoma is approximately 30 percent. This is why obtaining a liver biopsy is very important in identifying patients with cirrhosis. Patients without cirrhosis are usually at low risk of developing hepatocellular carcinoma. Screening for hepatocellular carcinoma includes routine ultrasound of the liver and measurement of a tumor marker called alphafetoprotein (AFP).
TREATMENT
Phlebotomy
Red blood cells are rich in iron. Phlebotomy refers to the removal of blood from the body, and will reduce the amount of iron in the body. It is done using a large bore IV in the veins of a patient.
Treatment begins with removing one to two units of blood every week until the stored iron is decreased to normal levels. One unit of blood consists of approximately 500 cc of blood. Within 500 cc of blood, 200-250 mg of iron is present. It may take several months to get to normal body iron levels. After iron stores are decreased to normal, the patient should continue to have blood drawn periodically to maintain low iron levels. This is because the body continues to absorb iron from our diet. Maintenance phlebotomy is a life-long treatment.
Diet
It is not necessary to do severe dietary restrictions. However, moderation should be exercised. A balanced diet is always important with proper consideration to the iron content.
- No iron supplements,
- Limit organ meats, and red meats,
- Watch the intake of iron enriched foods
- Some cereals have 100% of the RDA for iron in one bowl!
Remember that these days iron is added to everything
including our flour, pastas, breads and even some canned foods.It is impossible to avoid iron completely, but we can choose products with less iron content.
- Avoid Vitamin C supplements. They can cause increased dietary iron absorption. It should be limited to no more than 300 mg per day and should be taken at least 2 hours before or after meals.
- Avoid alcoholic beverages. Alcohol can increase iron absorption. Alcohol can also damage the liver, especially in those who already have their somewhat liver damaged because of their hemochromatosis.
- Avoid smoking. Smoking can increase iron absorption
- Do not eat raw or undercooked seafood. Sometimes these types of foods carry some kinds of bacteria that can make people with hemochromatosis very sick.
- Tannins in foods such as coffee and tea have been shown to inhibit iron absorption, so a cup of tea with a meal is recommended.
- During the initial phlebotomy regiment, it is recommended to take B-Complex, Vitamin E & Folic Acid supplements. These supplements assist the body in the rebuilding of hemoglobin in red cells. They can also function as antioxidants to help in the release of the iron.
Chelation Therapy
A number of medications including deferoxamine binds iron and can be used to remove excess iron from blood. However, it only removes 80 mg of iron a day, is expensive, and cumbersome. Chelation therapy may be used in patients who cannot tolerate phlebotomy because of low red cell count (anemia) or other medical conditions.
DIET & HEMOCHROMATOSIS
There are a number of food items and supplements that should be avoided in individuals with hemochromatosis. There are a number of food items that are recommended in individuals with hemochromatosis.
Here is a short list:
- Vitamin C
Vitamin C can increase absorption of dietary iron.
- Avoid over the counter vitamin C
- Read the amount of vitamin C in multivitamin tablets and avoid those with high amounts of vitamin C
- Processed Food
Most processed foods are rich in iron.
- Avoid processed foods or read their iron content.
- Cereals and bread typically have added iron.
- Raw Seafood
Seafood may contain certain types of bacteria that like to grow in iron-rich environment! This includes cholera that is in all sea water and vibrio.
- Avoid raw seafood. Especially shellfish, oysters and other "filter feeders"
- Cooked seafood, however, should be safe.
- Red Meat
Red meat is high in iron. It is not recommended to avoid red meat but to limit its intake. Red meat has iron in the form of hemoglobin that is readily absorbed into the body.
- Tea
Tea helps block iron absorption. Please note that herbal tea does not generally have this effect.
- Include tea with all meals!
- Vitamin B complex
Vitamin B complex including folate is not only safe but helps rebuild red cells that are lost during phlebotomy treatments.
Hamidreza Sanatinia, M.D.
Cancer & Blood Specialists of Nevada
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