Hemochromatosis diagnostics. Prices, reviews, ratings
General information
Hemochromatosis is an autosomal recessive disease caused by pathological phenomena in metabolism. It is accompanied by increased absorption of iron in the gastrointestinal tract, which leads to its deposition in the tissues of internal organs and subsequent multiple organ failure.
Every day, about 15-20 grams of iron enters the human body with food. Thanks to the coordinated work of the metabolic mechanisms of our body, only the amount necessary to cover the physiologically determined daily costs is absorbed in the intestines. Excess ferritin is subsequently removed by exfoliation of small intestinal cells.
In hemochromatosis (also known as pigment cirrhosis), this process is disrupted, which leads to increased absorption of iron-containing pigments, their accumulation, and, as a result, multiple lesions of internal organs.
In medicine, primary and secondary types of pathology are distinguished.
The primary type manifests itself when a child inherits a defective gene from both parents and is differentiated into the following types:
- classical hereditary, HFE-associated type (is the most common);
- juvenile - mutations are observed in the gene responsible for the synthesis of hepcidin and hemojuvelin;
- hereditary HFE-unassociated;
- autosomal dominant.
The appearance of secondary hemochromatosis can be caused by blood transfusion, overdose of iron-containing drugs and adherence to a low-protein diet.
It is important to know that the pathology in question is constantly progressing. In the absence of adequate treatment, it can lead to irreversible changes in the body.
Procedure
Preparation
Before starting diagnostic procedures, you must consult a gastroenterologist. After conducting a visual examination, listening to the patient's complaints and reviewing the medical documentation, the doctor will be able to determine the list of measures necessary to establish a diagnosis.
Diagnostics of hemochromatosis
If pigment cirrhosis is suspected, a certain set of laboratory and instrumental studies is required to allow doctors to verify the correctness of the diagnosis.
The disease indicators are as follows:
- increased levels of iron, ferritin and transferrin in the blood plasma;
- positive result of the Disferal test;
- detection of hemosiderin in biological material taken as a result of a puncture biopsy of the skin or liver tissue.
Additional instrumental tests are performed to assess the degree of possible complications and the general prognosis of the disease. examinations:
- Ultrasound of abdominal organs;
- X-ray of bones and joints;
- magnetic resonance imaging of the liver;
- electrocardiogram and echocardiography.
Rehabilitation period
In case of congenital or acquired form of the disease, it is necessary to start its treatment immediately.
Indications
The indication for the diagnosis of hemochromatosis is a characteristic symptom complex of the disease.
Clinical signs include:
- pigmentation of the skin (brown or bronze tint);
- dyspeptic disorders;
- diabetes mellitus;
- pathological enlargement of the liver and spleen;
- cardiomyopathy;
- hair loss on the head, deformation of the nail plates.
Contraindications
Currently, bloodletting is used to remove excess iron. However, if the patient has anemic syndrome, hemolysis or blood clotting disorders, phlebotomy is strictly contraindicated.
Complications
Early diagnosis of hemochromatosis in combination with modern methods of therapy are aimed at minimizing the likelihood of developing various complications, which include liver failure, bacterial sepsis, thyroid dysfunction, hypogonadism.
Prices and clinics
A hematologist in private and public clinics can diagnose the disease. You can find out about the work schedule, list and cost of services provided on the medical portal .
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