Hemochromatosis deadly disease easy to overlook
by Wes Mayer
On Friday, the family and friends of Lt. Donald Ayers, who lost his life after a long battle with hemochromatosis, is hosting a golf tournament fundraiser to assist the family with Ayers’ medical expenses.
Ayers served the public with a 27-year career in the Coweta County Sheriff’s Office, starting as a patrol deputy and rising to a lieutenant with the division of court services. His disease, hemochromatosis, caused multiple complications with his health and ultimately caused his liver to fail, putting him in a hepatic coma. On July 25, he passed away at Doctor’s Hospice at the age of 49.
So what is hemochromatosis?
Hemochromatosis is a disease caused by iron overload, a condition where the body absorbs excessive iron that builds up in the tissues of organs like the liver or the heart. According to the Centers for Disease Control and Prevention, about one million Americans suffer from hemochromatosis, and the most common cause is genetics, or hereditary hemochromatosis.
Hemochromatosis causes a number of symptoms including fatigue, weight loss, joint pain and abdominal pain. But if it is left untreated and undiagnosed, it can cause much more serious conditions, including liver cancer, heart disease, diabetes, arthritis and cirrhosis of the liver, according to the CDC.
Hemochromatosis can also be caused by nongenetic means, but in Ayers’ case, the disease was a result of genetics. Because of this, members of Ayers’ family were encouraged also to be tested for the disease.
According to Dr. Norman Gitlin, an Atlanta-based gastroenterologist who has specialized in treating hemochromatosis for more than 40 years, when someone is diagnosed with hemochromatosis, that person’s children, brothers, sisters, nieces and nephews should also be screened. Gitlin said the gene that causes hemochromatosis is Mendelian dominant and is passed on to the child when both the mother and father are carriers of the gene.
Testing for hemochromatosis is not in the routine panel of tests, Gitlin said, so it is underdiagnosed and usually diagnosed late. However, hemochromatosis is the third most common disease in the United States. It is just often misdiagnosed as one of its symptoms such as diabetes or heart disease.
People may be tested for hemochromatosis by a simple blood test to measure the iron in their blood. According to Gitlin, the normal person has around 4.5 grams of iron in their blood, but someone with hemochromatosis could have around 20 grams of iron. If someone is diagnosed with hemochromatosis, the treatment is to get regular phlebotomies, a procedure similar to donating blood that over time will lower a person’s iron levels to normal.
A local woman, Terri Gangell, is experienced with hemochromatosis because both her children were diagnosed with the disease in the early 1990s. Fortunately, both were diagnosed early on and have been able to fight the disease through phlebotomy treatments. Gangell’s daughter, Katie, was also one of Gitlin’s patients.
Gangell said Katie, who is now 36, first began experiencing problems in college in Ohio when she got a sore throat and a lump on her neck. Gangell first told her daughter to go to the campus health clinic and rule out mononucleosis, but when symptoms continued, Gangell said she got the idea for her daughter to see a gastroenterologist – Katie had about a foot-and-a-half of her intestines removed when she was younger.
The gastroenterologist ran a blood test on Katie and found she had the second highest count of iron he’d ever seen, according to Gangell. This was later diagnosed as hemochromatosis, and Katie had to have numerous phlebotomies as treatment, giving a pint of blood every week for the next eight months. On top of this, she was told not to drink alcohol or take any Tylenol during this time. Nowadays, she has no problems with the disease and simply gets regular phlebotomies to keep her iron count in check.
Gangell said her son is still working on getting his iron count down and has been getting a phlebotomy about once a month for a couple of years.
Gangell has researched the disease extensively and discovered both she and her husband were carriers of the gene. This meant the couple’s brothers and sisters could also be carriers, and their children were encouraged to be tested as well. So far, only one of her nieces has been diagnosed, but her iron count did not start to rise until more than 10 years after her diagnosis, and they have been able to keep it under control.
According to the CDC, people with hemochromatosis will be much healthier the earlier they are diagnosed. Those who are diagnosed with the disease can fight it with regular blood tests, phlebotomies and by staying away from iron supplements, other pills with iron, alcohol or even raw fish, which may contain germs harmful to people with hemochromatosis.
Most people do not seem to know about hemochromatosis, Gangell said, but she believes knowledge of the disease is getting better and better every year.