[ Post a Response | Hemochromatosis ]
Posted by Nora on 10/30/2005, 10:22 pm Hemochromatosis is under diagnosed; many physicians still consider it a rare disorder. Medical documentation on hemochromatosis is still evolving as more cases are diagnosed especially in younger people. Previously diagnosis was most often made in the later stages of the disorder when there was obvious damage. Despite the availability of genetic testing women and younger people with ferritin under 1000 are often not diagnosed with hemochromatosis (elevated ferritin is often considered an acute phase reaction caused by arthritis or inflammation). I had elevated ferritin for over a year and my family doctor did not think a genetic test was warranted because HH is very rare and I was too young for the profile he had been taught. Therefore there is very little documentation of young women with HH. Even though young women may have experienced symptoms of iron overload their doctors may not have diagnosed it….. or documented it. I believe as awareness increases so will documentation of the number of young women with or without symptoms. One site I found that acknowledges HH patients can begin iron accumulation in childhood is “With over 30 different symptoms associated with hemochromatosis, the disease can be extremely difficult to diagnose. Many of the early symptoms of hemochromatosis are nonspecific, including weakness and fatigue, loss of sex drive, and general muscle aches that can also be caused by a number of medical problems unrelated to hemochromatosis. Symptoms may begin anywhere from age 30 to age 60, although in some rare cases they occur as early as 20. It takes a long time for organs to sustain enough damage due to excess iron before they begin to malfunction. Excess iron accumulation in the organs begins in childhood, but the symptoms of this disorder do not usually appear until adulthood. Symptoms of hemochromatosis begin to occur when the body has stored 20 grams or more of iron Many factors effect when symptoms of hemochromatosis may appear. Diet. People who take vitamin supplements that contain iron, or take vitamin C, which increases the body's effectiveness at absorbing iron, may have symptoms at a younger-than-average age. Blood loss. Individuals who lose iron through blood donation may also delay the onset of symptoms. Mutation type. There are two common mutations in a gene called HFE, which is known to cause hereditary hemochromatosis. One of these two mutations, H63D, is associated with a less severe and later onset form of hemochromatosis. People who have one or two copies of this mutation have a milder form of the disease compared to people who have two copies of the other common mutation (called C282Y).” There has been some discussion of Juvenile Hemochromatosis when young women have come forward on this newsboard. The gene responsible for juvenile hemochromatosis is located on chromosome one, where the HFE gene, which is associated with adult iron overload is located on chromosome six. I agree it is important to diagnosis the juvenile form because it is much more serious at an earlier age; however in the absence of the more serious symptoms of juvenile hemochromatosis the odds are higher that it is early onset of the more common HFE mutations. When someone is seeking testing because of family history of an HFE mutation, it is more likely the relatives would also have an HFE mutation not a juvenile mutation. In Tracey’s case her uncle and mother have genetic confirmation (and are too old to be candidates for the juvenile variety) so I think it is more likely they have an HFE mutation in their family. http://www.bloodjournal.org/cgi/content/full/103/12/4669 on juvenile hemochromatosis: Hypogonadotrophic hypogonadism and cardiac failure not only an early age of onset of iron overload, distinguish this disorder clinically from the much more common type of hemochromatosis that results from mutations of the HFE gene. It is not my intent to minimize the importance of testing for juvenile hemochromatosis, (it is very important), but I do not want to unnecessarily alarm young women, simply because they do not fit the outdated profile for HH and women. Nora
205.250.126.143
I am not a medical doctor, and offer no medical advice only some personal experience with hemochromatosis. Much of the medical information I read does not reflect the experiences of my family (or friends who also have HH). I think this is because much of the information available is incomplete. Just because most documented cases involve post menopausal women this does not mean young HH women with or without symptoms are an anomaly. The youngest girl I know of with HH (not the juvenile mutation) was diagnosed and had a few phlebotomies at the age of 5.
http://www.genetichealth.com/HCROM_What_Is_Hemochromatosis.shtml
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