Hemochromatosis: A common but under-diagnosed disease 

Oct 19th, 2018 | By | Category: Healthy Living

By Lisa M. Petsche

Chances are good that you have never heard of hemochromatosis, also known as iron overload disease, despite that it’s the most common genetic disorder in the western world. Although it can affect males and females at any time in life, it typically manifests itself in middle age. The disease is potentially fatal, but the earlier it is diagnosed, the better one’s chances are of being able to lead a long and healthy life.

The cause of iron overload can be genetic or non-genetic. The genetic type, which is by far the more common variety, is known as hereditary hemochromatosis or HH for short.

According to the Canadian Hemochromatosis Society (CHS), the disease affects “an estimated one in 300 Canadians of Northern European descent.” One in nine Canadians is a carrier of the disease. “While carriers only rarely develop hemochromatosis, children of two carriers may inherit the defective genes from both and develop the disorder,” says the CHS. Typically, those who have the gene are unaware.

A metabolic, multi-system disease, HH causes the body to absorb and retain too much dietary iron. Since there is no regular mechanism for eliminating iron from the body, the excess iron is stored in tissues and can cause damage in many areas, including joints, the heart, brain, liver, pancreas and endocrine glands. “The speed at which iron builds up and the severity of the symptoms vary from person to person,” according to the Centers for Disease Control and Prevention, and “many people do not have any early symptoms.” Unfortunately, and all too commonly, by the time they are diagnosed –  if they are ever properly diagnosed –  they have sustained irreversible damage.

Take the case of Lorraine, for example. After several years of increasing health issues – including fatigue, weakness, abdominal and joint pain and Parkinson-like symptoms –  and visits to numerous medical specialists who were puzzled by her seemingly unrelated symptoms, she was extremely frustrated and discouraged that no underlying cause could be found. Meanwhile, her physical functioning became more and more compromised. It was a naturopath she eventually turned to for help who suggested iron testing, querying hemochromatosis. At age 69, Lorraine was diagnosed with the disease.

Her iron levels were life-threateningly high but gradually returned to normal as a result of weekly phlebotomies (blood removal treatments from the arm, similar to blood donation) over the course of a year. Lorraine was told she was lucky that her internal organs had not been damaged. However, her joints have been severely affected, leading to the need for multiple joint replacements. The management plan includes regular blood testing to check her iron levels and periodic phlebotomies as indicated.

Diagnosis of HH is difficult because symptoms are vague, often masking themselves as other, more common conditions, such as hypothyroidism, liver disease, arthritis, heart disease, diabetes or even chronic fatigue. Some people may develop a bronze skin tone; Lorraine wasn’t one of them. The absence of this classic, telltale sign made diagnosis more difficult than it otherwise might have been.

In her journey through the healthcare system, Lorraine discovered that most healthcare professionals know little about HH. (Up until recently, medical students were taught that the disorder is rare.) And the vast majority of lay people have never heard of it. She had to do her own research, and eventually found valuable books, research articles and other materials through the CHS. For information, call their toll-free line at 1-877-BAD-IRON (1-877-223-4766) or go to the website at www.toomuchiron.ca/.

Talk to your doctor, because two simple and inexpensive blood tests – serum ferritin test and transferrin saturation percentage test – can detect iron overload and may save your life or that of someone you love. These tests are not part of the standard blood testing ordered with regular medical checkups. If someone in your family is diagnosed with HH, DNA testing can be done to determine if other members may be at risk.

Author’s note: Lorraine is my mother, and we have made it our mission to spread awareness about hereditary hemochromatosis. 

Lisa M. Petsche is a registered social worker and a freelance writer specializing in boomers’ and seniors’ health and wellness.

Leave a Comment