One in 300 People in Canada At Risk for Hemochromatosis (HHC)
Posted March 15th, 2009 by webadmin
The Facts on Hereditary Hemochromatosis
Recently I was having dinner with a friend who is a semi-retired physician who performs locums at a local medical clinic in my community. He mentioned that the day before he had worked at the clinic and he was assigned 53 out of a total 114 patients that day between the hours of 9 AM – 5 PM. The 53 he diagnosed and cared for works out to roughly 7 patients an hour or a new patient every 8.5 minutes (not including a coffee and lunch break or consulting with clerks or medical staff).
My medical friend then commented, “There are so many ‘orphans’ that come to a clinic”, defining ‘orphans’ as people without a regular general practitioner, “and they attend a clinic to get a remedy for a critical illness and since I do not know much about them, I am left to solving the surface issue rather than going deeper into what the cause of the illness is. If I don’t keep pace with the patient load in the waiting room, I would leave many people untreated.” As the Executive Director of The Canadian Hemochromatosis Society, my thoughts went to the thousands of Canadians in the same situation and how their underlying disorder, hemochromatosis, goes untested, undiagnosed and untreated because they are ‘orphans’ in the system.
Hereditary Hemochromatosis (HHC) is primarily an inherited (genetic) condition that allows too much iron to be absorbed and stored throughout the body. It is the most common genetic disorder in Canada, affecting one in every 300 Canadians in the general population. It affects men and women equally, although signs appear later in women. One in 9 are carriers of one of the mutated genes responsible for the disorder. (See earlier blog for gene relationship and prevalence).
Most people absorb only enough iron to meet their body’s daily requirements, and the excess is excreted. In hemochromatosis, however, iron continues to be absorbed and stored in different organs and tissues long after the body’s needs are met. The liver is the first organ to store excess iron after which it accumulates in the heart, pituitary gland, and elsewhere in the body. If untreated, the resulting damage to the liver, heart, and pancreas may eventually lead to death.
In hemochromatosis, the total iron content in the body can reach as high as 5000 milligrams, compared with the normal levels below 250 milligrams in women and below 300 milligrams in men. It’s been nicknamed “bronze diabetes” because it may be accompanied by diabetes mellitus and increased skin pigmentation (bronzing or graying of the skin). [The Bronze Killer, by Marie Warder, Founder of the Canadian Hemochromatosis Society, may be ordered from the Canadian Hemochromatosis Society website www.toomuchiron.ca]
Because women lose iron in their menstrual flow, they tend to be protected from getting hemochromatosis as long as they are having menstrual cycles. Thus it affects men earlier than women, usually when the men are between their late 30’s and 55 years old.
Causes of Hemochromatosis
Hemochromatosis is usually hereditary. It takes two defective genes, (C282Y) one from each parent, to cause hemochromatosis. Siblings of those affected have a 25% chance of getting it. Both parents must be carriers of the defective gene, which means that a child of a person with hemochromatosis is less likely to have it than the person’s siblings are. H63D is another gene mutation, when combined with C282Y, that causes hemochromatosis.
Symptoms and Complications of Hereditary Hemochromatosis
Many people with hemochromatosis don’t have any noticeable symptoms. The liver will begin to retain iron at birth, but it may take 20 to 30 years before symptoms appear. Other organs in the body also store the iron; the heart, pancreas, pituitary gland, joint tissues and other vital areas of the body. Early symptoms include fatigue and swelling in the joints (arthritis), particularly in the knuckles of the middle and index fingers.
In the later stages of the disease, people may experience:
- abdominal pain or tenderness
- abdominal swelling
- Alzheimer’s disease
- bleeding from dilated veins in the esophagus
- bronze or gray coloured skin
- chronic fatigue
- diabetes (type 2)
- heart disease, arrhythmia, myopathy
- erectile difficulties
- premature menopause
- excessive hunger and thirst
- frequent urination
- liver disease, cancer
- premature menopause
- yellowing of the skin and eyes (jaundice)
If iron builds up in the heart muscle, it may cause irregular heartbeat and heart failure, leading to shortness of breath and swelling of the ankles. If it accumulates in the pituitary gland, it can cause menstrual irregularities in women and sexual dysfunction, loss of sex drive, and erectile difficulties in men.
Other specific organ-related symptoms may include joint pain, abdominal pain due to hepatic enlargement, and diabetes as a result of damage to the pancreas.
Men usually accumulate over 1000 milligrams of iron in their body before symptoms develop. In women, symptoms often show up after menopause and about five to ten years later than in men. This is because menstruation and pregnancy protect them from building up too much iron. Women who reach menopause before the age of 50 often have more iron in their bodies than those who reach it after age 50.
Complications due to hemochromatosis cause the most serious problems; this is why early detection and treatment are essential. Once the condition is advanced, arthritis, cirrhosis, bronze skin pigmentation, diabetes mellitus (occurs in 50% to 60% of people with hemochromatosis), cardiac problems, and heart failure may appear. Pituitary failure is common and may be the cause of testicular atrophy (shrinkage of the testicles) and loss of sex drive, which occurs frequently. Early detection and treatment before the liver is damaged usually allows the person with hemochromatosis to have a normal life expectancy.
If potential life-threatening complications have occurred, such as an enlarged liver and/or spleen or cardiac problems, life expectancy can be increased by treating these complications. Damage caused by cirrhosis of the liver, however, is irreversible, and may lead to cancer.
For more information, become a member or donate to the Canadian Hemochromatosis Society, please visit www.toomuchiron.ca.