Hereditary hemochromatosis and the pharmacist’s role in helping identify sufferers
Posted December 6th, 2016 by Canadian Hemochromatosis Society
By Carlyn Volume-Smith, B.Sc.(Pharm.), M.Sc., PhD
Hereditary hemochromatosis (HHC) is an inherited disorder, which causes patients to absorb too much iron from their diet. This excess iron then accumulates in the patient’s body, causing deposits in organs and joints. Individuals with HHC who are suffering from the effects of iron overload often remain undiagnosed until organ damage or other negative effects impact their longevity and quality of life. As one of the most accessible health-care providers, pharmacists can play a key role in identifying patients who may suffer from iron overload due to HHC.
HHC is a recessive disorder that is commonly seen in persons of Celtic and Northern European heritage. In Canada, it is estimated the disorder affects up to one in 300 people. Not all patients with the gene mutations suffer from iron overload, but for those that do, early intervention can prevent long-term consequences.
Patients usually present in midlife, when body iron stores have accumulated and negative effects start to be felt. In some cases, a family history of severe liver disease (cirrhosis and/or liver cancer), arthritis and diabetes may be present. Onset in males is usually earlier than in females, who may be at lower risk due to pregnancies and menstrual blood losses which can deplete iron and prevent symptoms of iron overload.
The pharmacist’s role
Community pharmacists are often among the first health-care providers approached by patients suffering from the diverse and non-specific symptoms of iron overload. Accordingly, pharmacists are positioned to intervene when they are suspicious of HHC and can refer the patient to their family physician for assessment and diagnosis. In some cases, patients may seek the assistance of a pharmacist in an effort to self-treat before proceeding to their family physicians. Unfortunately, some remedies for iron overload symptoms can harm HHC sufferers over the long term. For example, advising regular dosing of acetaminophen could harm an already damaged liver. Similarly, recommending iron supplements or multivitamins containing iron can aggravate iron overload in an already dangerous situation.
The following are common indicators of iron overload that pharmacists may recognize in their patients:
- Arthritis and joint pain (in particular the first two joints of the first two fingers)
- General tiredness
- Changes in mood, anxiety or depression
- Chest pains and shortness of breath
- Impaired sexual function or infertility
- Loss of body hair
- Tanned or grey skin discoloration.
When presented with middle aged or older individuals (in particular males) seeking treatment for two or more of the symptoms outlined above, pharmacists should ask the following questions prior to recommending over-the-counter therapies:
- First, is the individual of Celtic or Northern European heritage?
- Is there a history of severe liver disease, arthritis and/or diabetes in the family?
If the answers to these questions are positive, there is merit in referring the patient to their physician for additional testing to rule out HHC.
Once HHC and iron overload is diagnosed, the primary treatment is regular removal of blood (phlebotomy). Phlebotomies prompt the body to mobilize excess iron stored in joints and organs to make new red blood cells to replace those that were taken. Phlebotomies occur on a regular basis (e.g., weekly) until such time that serum ferritin and transferrin saturation reach reasonable levels. Though alterations in diet cannot treat iron overload, patients are also advised to avoid dietary iron which can negatively affect iron build-up. Once iron stores are normalized, HHC sufferers typically require phlebotomies every three to four months as maintenance therapy. Regular blood donation can be used in some cases as maintenance therapy.
Dr. Carlyn Volume-Smith is a licensed pharmacist and a Canadian Hemochromatosis Society board member. She believes that community pharmacists can play a vital role in patient health through their accessibility and the strong therapeutic relationships that they have with their patients. Her article also appears in the Nov/Dec 2016 issue of “The Tablet”, a publication of the BC Pharmacy Association.