What is hereditary hemochromatosis? 7 questions with Adam Linck, M.D.
By Kristy Bleizeffer Apr 11, 2016
Hereditary hemochromatosis is a condition that causes the body to absorb too much iron from the food you eat.
While iron is an essential mineral in transporting oxygen through the body, hereditary hemochromatosis can cause too much iron to be stored in your organs, leading to life-threatening conditions if not properly managed.
1. What is hereditary hemochromatosis?
Hereditary hemochromatosis (HH) is an inherited disorder that is due to a mutation in our genes. This is passed down to us from our parents, and if you have hereditary hemochromatosis, it is something that you are born with.
In patients with hereditary hemochromatosis, too much iron is absorbed through their intestinal tract and is deposited in their tissue, especially the liver, heart, pancreas and our pituitary gland located in our brain. The most commonly affected tissue is the liver. HH is most commonly seen in Caucasian populations in the United States and Europe at a frequency of 5 per 1000 people in this population. It is rare for HH to be seen outside of this demographic.
2. What are the symptoms and when do they normally occur?
HH normally manifests itself after age 40 in men and later in women. Signs of the disease are liver function abnormalities, abnormal blood counts, diabetes mellitus, skin hyperpigmentation (the development of dark patches) and ECG (an electrical study of the heart) abnormalities.
Symptoms include weakness and lethargy, joint pains and/or erectile dysfunction. It can also cause cardiomyopathy (enlarged heart), hypogonadism (low testosterone) and hypothyroidism (underactive thyroid.)
3. What are the risk factors?
In HH, you are born with a mutation in your HFE gene causing the disease. This is passed down through family lineage. It is a recessive condition, meaning both of your genes have to have the mutation in order for you to have the disease, making it more rare. As stated above, Caucasians and those of Northern European descent are much more likely to have HH.
4. Does it affect men and women differently?
The largest difference in men and women is the age of onset. Both men and women can have the same long-term consequences; due to menstruation, however, women typically don’t have enough iron to cause overload and tissue deposition until they go through menopause, suggesting they aren’t normally affected until their 50s to 60s.
5. How is it diagnosed?
Diagnosis should be considered in anyone with abnormal liver function with no known cause, enlarged heart, diabetes with skin hyperpigmentation (Bronze Diabetes), Hypogonadism (body’s inability to produce adequate testosterone), unexplained fatigue and/or arthritis, and positive family history of iron overload.
Blood can be drawn to see if you have excess iron in your system. If this is found to be elevated, your doctor can do genetic testing to determine the diagnosis. But, with a known family history, this may not be necessary and treatment can be started.
6. How is it treated?
The mainstay of treatment for HH is regular phlebotomy, or blood draws. Upon initial diagnosis, patients may need to do regular blood draws weekly for up to a year. After that, maintenance blood draws are normally done every two to four months to keep your iron stores at a safe level. Your doctor will check your iron levels to determine the need for phlebotomy and tailor your treatment to your body’s needs.
7. When should you see a doctor?
You should make an appointment with your doctor if you are experiencing any of the signs or symptoms described above, or if you have a family member with the disease. Your doctor can talk to you more about the disease and genetic screening to decide if it is right for you.
Dr. Linck is a board-certified family practice physician at Sage Primary Care. He grew up in Riverton and became interested in medicine at age 6 when his grandfather was treated at Wyoming Medical Center for a heart attack. He is accepting patients of all ages. Call (307) 265-8300 for an appointment.