Generality
Hemochromatosis is a disease, generally inherited, characterized by the abnormal accumulation of iron in the body's tissues. If not diagnosed and treated in time, it can therefore cause serious damage to organs such as the liver, pancreas, heart, but also to the glands of the sexual sphere and joints.
Causes
The hereditary form, by far the most frequent, affects approximately one in three hundred individuals, with a certain prevalence in the male sex; the average age of onset is around 50 years.
As anticipated, while the normal individual normally absorbs 1-2 grams of iron per day, in patients with hemochromatosis this quantity increases up to double or even triple; consequently, the iron deposits in the body also increase, which from the canons 1 -3 grams, increase to 20-30 or more grams.
Symptoms
For further information: Hemochromatosis Symptoms
The most characteristic symptom of hemochromatosis is the coloration of the skin, which acquires shades similar to bronze (once the disease was known as diabetes bronzino) and slate gray, with chromatic alterations mainly localized in the uncovered parts.
The symptoms, in any case, are related to the extent of iron accumulations in the various tissues and include: lethargy and fatigue, joint pain, loss of libido, abdominal pain, hypogonadism and an increase in the volume of the liver (hepatomegaly), which can exceed 2kg.
It must be said, however, that the onset of these symptoms is extremely slow and progressive, so much so that the clinical onset normally occurs after 40 years and in an initially nuanced manner; often the onset of symptoms is anticipated by a fortuitous and casual diagnosis of hemochromatosis, for example during routine haematological tests.
Diagnosis
It is in fact possible to diagnose the disease through a simple blood test; In particular, we will look for those "spy" elements that reflect the extent of iron deposits in the body, such as ferritin and transferrin saturation (sideremia). A transferrin saturation greater than 60% in men and 50% in women is a highly specific index of hemochromatosis in asymptomatic individuals
. The diagnostic confirmation can also be given by a small liver biopsy, which allows to evaluate at the same time the health of the organ, or by other tests, including genetic ones, now able to detect the small mutations involved in the onset of the disease (with screening valence).An important thing, in any case, is the extension of the test to family members, to check them for any iron overload; it is in fact known that the complications of hemochromatosis and the prognosis are all the more unfavorable the earlier the onset is. of the disease and late diagnosis.
Complications
The organ that suffers most from the accumulation of iron is the liver, so much so that in the presence of hemochromatosis the risk of developing liver diseases, such as cirrhosis, fibrosis and carcinomas, is significantly higher than in the normal population. Risk that increases even more in habitual drinkers, in those who follow a diet particularly rich in iron (the same red wine contains it in important quantities), after menopause (for the cessation of menstrual bleeding) or in the presence of a "viral hepatitis .
In conjunction with, or more frequently after, cirrhosis, the patient may also develop diabetes mellitus, which reflects changes in the pancreas.
Care and treatment
For further information: Drugs for the treatment of hemochromatosis
The treatment of hemochromatosis is aimed at removing the excess iron before it causes irreversible organ damage, with particular attention to hepatic complications (fibrosis and cirrhosis); in this regard the practice of periodic bloodletting (phlebotomy) remains the cornerstone In fact, every 500 ml of blood removed 250 mg of elemental iron are eliminated, at the same time stimulating the bone marrow to recall similar quantities of the mineral from the deposits (necessary for erythropoiesis, that is, for the synthesis of new red blood cells) . The frequency of bloodletting, higher in principle (1-2 weekly withdrawals), then undergoes a rarefaction (3-4 per "year), which however allows to prevent the re-accumulation of iron.
For those suffering from hemochromatosis, there is also the possibility of undertaking chelation therapy, by taking drugs (the most famous is desferroxamine) capable of complexing iron and facilitating its urinary elimination; their effectiveness in promoting the mobilization of iron from deposits is less than that of bloodletting, but they are one of the few useful alternatives in the presence of anemia (which is an obvious contraindication to phlebotomy). In the presence of hemochromatosis, the dietary approach foresees a drastic reduction of foods rich in iron (red meat, offal, crustaceans) and abstention from alcohol (important prohibition to prevent or slow down the evolution of liver damage); at the same time, the intake of whole foods and vegetables will be encouraged, which - thanks to the high content of fiber and phytates - reduce the absorption of iron in the intestine.
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