Initial testing consists of ferritin levels, transferrin saturations and genetic testing. After a further 20 venesections of only 250 mls each Mrs. Abbott has a ferritin level of 46 ug/L. The treatment for this patient is to deiron her down to a ferritin level of 25 to 75 ug/L and try and maintain that level. Her ferritin level is 650 ug/L and she has a transferrin saturation of 96%. In itself these are big clues – this patient probably has HH. If Mrs. Abbott had a ferritin level of say 2,000 ug/L then it would be a tougher call. A liver biopsy is probably not necessary as the ferritin level is not markedly elevated. Interestingly this patient almost certainly has fibrosis of the liver which may well be reversed if the patient is properly deironed. She is probably a patient who may only require 2 or 3 (half) venesections per year. What Happens If The Patient Cannot Tolerate Venesections? What Happens When A Patient Presents? Anyhow let us assume that the patient is suspected of having hemochromatosis. Hereditary hemochromatosis takes many years to display its true nature.
- 4 years ago from Spring Hill Florida
- Dark Urine
- Taking over-the-counter medications for pain and fever
- 2 years ago from SomeWhere Out There
- The clinical trial was conducted at the following university hospitals
- 5 years ago from San Diego California
This is because it takes time to load iron in the body. In this way many early cases of HH are now being picked up and successfully treated before patients load enough iron to give the severe consequences of organ failure. Now Mrs. Abbott is from a very large family. The patient’s family should also be screened for HH. Examination of the patient’s abdomen reveals an enlarged liver. Those at greatest risk are the patient’s siblings. All the siblings are willing to be tested and live close. She has 10 siblings, all of whom are younger and still alive. In this form of hemochromatosis patients are most commonly homozygous for (carry two copies of) the C282Y mutation of the HFE gene. Genetic testing reveals the patient to be a carrier of two copies of C282Y. Often the diagnosis can be made using genetic testing and iron studies. However Mr. Abbott is a long time blood donor so it is difficult to assess what his true iron status would have been.
This patient is found to have an enlarged liver on ultrasound – but no cirrhosis. Her liver function tests are now normal and her transferrin saturation has fallen to 45%. Proper treatment is to now monitor Mrs. Abbott and see how quickly she loads iron. Liver biopsy is often now not necessary. Now this patient has HH. When the patient is examined by the doctor she is noted to have enlarged and painful second and third knuckles and pain at the base of her thumbs. Mechanistically, when you have elevated blood sugar, you’re doing a lot of things, one of which is to compromise the insulin receptor. Because one C282Y mutation is inherited from each parent Mrs. Abbott’s parents were at least carriers of one C282Y mutation or were C282Y heterozygotes. There is a 50% chance that the children of the Abbott’s will carry two copies of C282Y and a 50% chance that they will be compound heterozygotes like their father. He carries one C282Y mutation and one H63D mutation.
Paradoxically one of them is anemia or iron deficiency. This is known as “iron fist” and is a clue to hemochromatosis. Hereditary hemochromatosis (HH) is the most common form of hemochromatosis. There are other forms of hemochromatosis and iron overload which will be discussed later. It will take longer to deiron Mrs. Abbott, but her treatment overall is safer. Our patient – who we shall call Mrs. Abbott – is a small lady. Over the years it turns out that Mr. Abbott has donated 50 pints of blood. So the alternative is to test Mr. Abbott and work out the possibilities for the children. When Mr. Abbott is tested he is shown to be a C282Y/H63D compound heterozygote. This is the usual case in C282Y/H63D compound heterozygotes. Mrs. Abbott’s children need also to be tested. She would need to be deironed more quickly. So the children all need to be individually tested. She had five children and menopause at age 45 years. I mean that was our contention with the original ‘Grain Brain’ five years ago.
The patient is a lady of some 65 years of age. This lady is also known to have osteoporosis (the rate of which is increased in HH) so it is important that she not fall as she could easily break an arm or worse a hip. This is because women have monthly menstrual cycles and have children. She has 5 children. The children live in various locales and are not immediately available for testing. So preliminary testing is done. Immediately after venesection a cold pack was applied to Mrs. Abbott’s veins. After Mrs. Abbott’s first venesection of 500 mls (which is equivalent to 250 mcg of iron) she is totally exhausted and has difficulty standing for some three days. If the patient was a woman only 3 grams of iron had to be removed by venesection without causing significant anemia to make the diagnosis. So the bar is “set lower” to confirm the diagnosis of HH in women.