May is hemochromatosis awareness month
WHAT IS HEMOCHROMATOSIS?
Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes. The genes that cause hemochromatosis are inherited, but only a minority of people who have the genes ever develop serious problems. Signs and symptoms of hereditary hemochromatosis usually appear in midlife.
Hemochromatosis Self-Assessment Tool
Are You at Risk for Hemochromatosis?
The Canadian Hemochromatosis Society has developed a simple set of questions to help determine if you are at risk for hereditary hemochromatosis. Read on to determine if you and / or your family may be at risk.
1. Do You Have Celtic or Northern European Ancestry?
A large segment of the Canadian population is potentially at risk to develop harmful effects from Hereditary Hemochromatosis (HHC). HHC is a disorder most commonly seen in persons of Celtic and Northern European heritage. In the world, the incidence of the disorder is highest in Ireland and Brittany (France). In Canada, the incidence in the general population is one in 300.
The majority of cases are recognized in midlife, when body iron stores have accumulated. A family history of severe liver disease (cirrhosis and/or 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.
HHC is a recessive disorder which means that an abnormal gene must be inherited from both father and mother. The clinical expression of HHC varies; early identification and treatment can prevent serious illness.
If you are an adult with both parents of Celtic or Northern European heritage you may be at risk for HHC.
2. Do You Have Any of the Early Symptoms of Hereditary Hemochromatosis?
Early symptoms include the following which generally occur in a decreasing order of frequency:
- chronic fatigue or tiredness
- pain and stiffness in the joints of the hand particularly the small joints at the base of the thumb, index and middle fingers
- abdominal pain and bloating in the upper right region
- loss of libido and/or erectile dysfunction in men
- loss of libido and irregular periods and/or early menopause in women
- pigmentation of the skin resembling a sun tan or slate grey colour
- onset of diabetes (type 2) and/or elevated glucose levels
- an irregular heartbeat
- thyroid problems
- elevated liver enzymes
- personality changes, mood swings; anger and depression
3. Any Two Symptoms: Ask for Serum Ferritin and Transferrin Saturation Tests
If you have any two of the above symptoms and/or physical signs and they are not explained and/or have not been investigated by your doctor, you should ask for a serum ferritin and a transferrin saturation test. Elevated levels may indicate hemochromatosis and warrant genetic testing. Discuss the results with your doctor.
4. Three or More Symptoms
Three or more of the symptoms/signs raise the suspicion for HHC to a higher level. A family history of severe liver disease (cirrhosis and/or cancer), arthritis and diabetes is also a sign that HHC may be present.
5. Should Your Relatives be Tested?
ALL FIRST DEGREE RELATIVES of individuals who have a clinical diagnosis of hereditary hemochromatosis would benefit from having an HFE genetic test.
6. Medical Notes
All the blood tests listed in this self-assessment tool, including the genetic test if necessary, are covered procedures under all provincial health care plans.
Other disease processes may be responsible for the symptoms and signs listed above; however, HHC should always be considered and looked for by measuring serum ferritin and iron saturation.
7. Bring These Guidelines With You When Visiting Your Doctor
The following printable guidelines may help you and your doctor screen for hemochromatosis.
FOR MORE INFORMATION CONTACT THE CANADIAN HEMOCHROMATOSIS SOCIETY AT https://www.toomuchiron.ca