Description hemochromatosis
Hemochromatosis is a disease caused by excessive iron deposition in tissues in the form of ferritin and hemosiderin (storage form of iron in the organism) followed toxic damage.
Is either congenital (primary, idiopathic haemochromatosis), which is more frequent or acquired (secondary hemochromatosis), e.g. by repeated transfusions or treatment of other diseases.
In congenital hemochromatosis iron accumulation is the result ofincreased absorption (absorption) of iron in the intestine. The amount of iron in the body gradually rises until it reaches more than ten times the normal (norm is about 5 grams, dietary receive daily about 10-20 mg of iron – sick with hemochromatosis absorbed daily to 40 mg). To make the body from birth accumulated a quantity of iron and individuals caused problems is needed some time. Therefore, the disease is manifested only inmiddle age (30-50 years), particularly in men as women are “protected” continuous loss of iron during menstruation and childbirth. However, the disease also occurs with them, but usually only with a delay of 10-15 years compared to men.
Risk factors hemochromatosis
Risk factors include inherited hemochromatosis incidence of the disease in the family, as well as male sex, and reaching a certain age, which varies for each individual (range is given between 30 to 50 years).
For acquired hemochromatosis is a risk of the aforementioned long served transfusions example. with anemia from various causes (anemia), since blood components are of course a source of iron.
prevention hemochromatosis
Prevention makes sense for individuals, especially boys whose parents suffer from this disease and suffering. It is necessary to monitor the concentration of iron in the blood, the saturation of protein transport form of iron (amount of iron bound to a protein called transferrin) and the concentration of the storage form of iron in the body (the protein ferritin).
These tests are supplemented by genetic analysis which shows the presence of disease-causing mutation. If the patient has a genetic predisposition to the disease may be manifested in his earlier in case of chronic consumption of alcohol and in infections with hepatitis (viral hepatitis).
Signs and symptoms of hemochromatosis
What a patient with hemochromatosis for trouble? Symptoms can be very nonspecific – fatigue, weight loss, weakness.
The basic characteristic of the image forming triad of symptoms – liver enlargement(hepatomegaly), increased skin pigmentation (hyperpigmentation) and diabetes (diabetes mellitus; in hemochromatosis because of skin color, was called. Bronze diabetes).
Diabetes (diabetes mellitus) are obviously sick for a long time may not know. It can occur later, to visually handicapped (retinopathy), kidney (nephropathy), neurological complications(neuropathy) – individuals e.g. feel lower limb, therefore wear improper shoes have bruises, forming them on leg ulcers, which are very long time to heal, They may not recognize or heart attack (myocardial infarction) because it does not feel pain. Always unclear when developing diabetes patient should be sent for examination to exclude hemochromatosis.
While the enlargement of the liver has about 50% of patients, skin pigmentation changes as found in virtually all patients. Increased deposition of pigment in the skin is preceded by years of diagnosis of hemochromatosis. Pigmentation are more prominent in exposed areas (face, neck, back of the hand) and scars.
Although diabetes in hemochromatosis, is called. Bronze diabetes, skin has a grayish tinge, rather than the typical bronze. Approximately 1/3 of patients present increased pigmentation of the conjunctiva and about 15% of affected oral mucosa.
The first symptom may be a heart condition, which often takes place under the picture of heart failure or heart rhythm disorder (cardiac arrhythmia). Heart failure is the leading cause of death in younger patients, in the elderly is difficult heart condition associated with hemochromatosis distinguished from chronic heart disease.
In 25-75% of patients with joint manifestations appear. The most commonly affected are the small joints in the hand (especially the index and middle finger) and knee joints, but may be affected by any joint of the body.
Reduced function of the gonads is already common in younger individuals with relatively good results liver. This is related to the loss or reduction of body hair, which again may precede the diagnosis of disease by several years.
treatment of hemochromatosis
The basis of treatment is to remove excess iron from the body. Irreplaceable therapies are thereforeblood donations that initially carried out every week. Patient sampling occurs at 500 ml each week until levels normalized. Later, the patient is taking at every three months, when it is removed 500 ml of blood (which is the usual amount during blood donations, but donations for these patients is usually avoided).
No use of blood derivatives (transfusion, etc.) And mineral waters containing iron. The meal is added extract from the pancreas (a pancreas) which reduces the iron absorption from the gut.
Another treatment option is administration chelates are now available preparations which can be taken orally (p.o.), but not by injection. These are substances which are able to bind iron and prevent its absorption in the intestine. It must be taken daily. Since they are very expensive and inefficient compared to blood tests, they are given primarily to patients who have impaired hematopoiesis, and for which they repeated blood sampling were a burden.
Option is a liver transplant, but the results are not very favorable. Of course there is the treatment of diabetes (insulin) and cardiac manifestations.
How can I help myself
If you have been diagnosed with hemochromatosis, you can try to eliminate from your diet foods containing iron, increasingly, drink mineral water containing iron, do not drink alcohol, which impairs liver function and accelerates the development of disease symptoms, properly control their diabetes.Clinical treatment in case of hemochromatosis, however, is irreplaceable and inevitable.
complications of hemochromatosis
As each disease has hemochromatosis its unpleasant complications, which often include liver cirrhosis, heart failure, infection, development of diabetes and up to 30% formation of liver cancer (hepatocellular carcinoma), and sometimes years after successfully leaching of iron from the body.
Other names: bronze diabetes, congenital hemochromatosis, acquired hemochromatosis
