Lecture notes:
Hereditary hemochromatosis is AR, chromosome 6, HFE gene. Most common mutations are C282Y and H63D missense.
Heavy metal disorders are AR. So Wilson disease is also AR.
Causes increased duodenal iron absorption. Body has very limited mechanisms to naturally dispose of iron. May do so via shedding of skin, or in women, menstruation.
Can cause dilated or restrictive cardiomyopathy.
If restrictive, you’ll get JVD, peripheral edema, HSM, etc.
If dilated, S3, big heart, crackles in the lungs.
Hereditary hemochromatosis and primary hyperparathyroidism are key causes of pseudogout, which will present as either a monoarthritis of a large joint such as the knee, or as an osteoarthritis-like presentation of the hands. The latter is how it shows up in hemochromatosis. So if you get DIP involvement in someone with hemochromatosis, answer is pseudogout, not OA.
Can also acquire secondary hemochromatosis (i.e., non-hereditary) from chronic blood transfusions. This is called transfusional siderosis.
Treat hereditary hemochromatosis with serial phlebotomy. Treat secondary with chelation therapy (i.e., deferoxamine).
