Thursday, July 3, 2014

Hemochromatosis

About four months ago I asked all of my family members to update their Tdap vaccinations in anticipation of Liam's birth. When my husband went in to get the booster his PCP insisted on doing a physical first. She ordered some blood work and found that his liver enzyme was elevated. After a long and confusing path of testing she ran a ferritin test. Normal ferritin levels are less than 100. Jeff's was 2562. He had a condition known as hemochromatosis or iron overload. People with hemochromatosis absorb three to four times more iron from food than normal, leading to an overload of iron, particularly in the liver and other storage organs. When this excess iron interacts with oxygen in the body, it produces the free radicals which damage cells and eventually lead to organ failure (like cirrhosis of the liver), heart attack, cancer and pancreatic damage.

The treatment for hemochromatosis is phlebotomy or blood letting. They take a pint of blood about three to four times a month to bring down the iron stores in his body. After three months, Jeff's ferritin levels dropped to 1440, which is great progress but unfortunately, the liver biopsy shows that he already has some degree of cirrhosis in his liver, which is irreversible.

Worldwide, some 24 million whites (about 1 in 200) of northern European ancestry suffer from hemochromatosis. Another 600 million (1 in 10) carry one of the genes responsible for the disorder, and absorb up to 50 percent more iron than non-carriers. Hemochromatosis is an autosomal recessive disorder so it is expressed when you have two copies of the defective gene- one from your mother and one from your father. Until recently it was thought that women were unlikely to have hemochromatosis, since men are five times more likely to show symptoms of the disorder. Scientists now believe that women are equally at risk, but the blood loss of menstruation and childbirth temporarily protects women of child-bearing age from the effects of excess iron absorption. After menopause, though, women with the disorder show symptoms at the same rate as men. After Jeff was diagnosed, he told his mom to get tested and she too, has hemochromatosis and has begun treatment. Her levels are not nearly as high as Jeff's however.

The symptoms of hemochromatosis tend to manifest themselves in middle age, because it takes time for the iron buildup to cause problems. Hemochromatosis can mimic many other ailments - including iron deficiency. The most universal symptoms include the following:

Fatigue
Weakness
Arthritic aches and pains, including swelling and tenderness around the joints
Heart arrhythmias ("skipping beats")
Changes in skin pigment - most notably development of a bronze tone - that occur even without sun exposure and that don't fade with time
Impotence or loss of interest in sex
Late-onset diabetes (some 10 percent of diabetics may actually be suffering from iron-induced pancreatic damage)
Missed periods or premature menopause

Prior to Jeff's diagnosis, I had never heard of this condition despite it being the most common genetic disorder of Caucasians with northern European heritage. The worst part about it is that it is so benign and easily treated if caught early, but devastating if missed. Despite this, it is not screened for and your ferritin levels have only every been tested if your doctor suspects a problem with iron overload. It is not part of routine blood work. In its early stages, when people are in their 20s and 30s, the condition is often easily ignored - or mistaken for other illnesses - because the symptoms, such as fatigue or aches and pains in the joints, are so vague. But if the disease progresses unchecked, by the time someone reaches his or her 40s or 50s, the growing iron deposits damage and eventually destroy surrounding tissues, leading to organ failure and chronic disease. The ferritin test costs only about $15. Given that the disease is so avoidable, and the consequences are so tragic if missed, I think that spending the money for the test is a good idea- even if you have to pay yourself.

We are still waiting to see how severe the cirrhosis in Jeff's liver is but whatever part of the liver that is cirrhotic is gone. When too much fails the only option left is a liver transplant. Hopefully, we're not at that point but I still wish that someone somewhere had screened for this sooner and he could have avoided all of this.