General measures Alcohol restriction (abstaining from alcohol). Conventional non-surgical therapy methods Bloodletting for primary hemochromatosis – initially 1-2 times per week; later depends on ferritin level (target < 50 μg/l); then individually (2-10 times per year – regularly – for life)Contraindications: anemia (anemia), congestive heart failure (heart failure) Regular checkups Regular medical check-ups (as recommended … Hemochromatosis: Therapy
Medical history (history of illness) represents an important component in the diagnosis of hemochromatosis. Family history Do you have a family history of common diseases of the blood system and/or liver? Are there any hereditary diseases in your family? Social anamnesis Current medical history/systemic medical history (somatic and psychological complaints). Have you noticed any change … Hemochromatosis: Medical History
Blood, hematopoietic organs-immune system (D50-D90). Chronic hemolytic anemia – forms of anemia associated with destruction of red blood cells (RBCs). Sideroblastic anemia – sideroblastic anemia, which is also called sideroachrestic anemia, is a special form of aplastic anemia (disorder of bone marrow function, in which there is decreased formation of all blood cells). Thalassemia major … Hemochromatosis: Or something else? Differential Diagnosis
The following are the most important diseases or complications that may be contributed to by hemochromatosis: Endocrine, nutritional, and metabolic diseases (E00-E90). Diabetes mellitus* (diabetes). Hypogonadotropic hypogonadism (hypofunction of the gonads). Cardiovascular system (I00-I99) Heart failure (cardiac insufficiency) Cardiomyopathy – structural heart disease that leads to limitation of performance. Liver, gallbladder and bile ducts – … Hemochromatosis: Complications
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body weight, height; further: Inspection (viewing). Skin, mucous membranes and sclerae (white part of the eye) [hyperpigmentation of the skin]. Auscultation (listening) of the heart [cardiomyopathy (heart muscle disease)] Palpation (palpation) of the abdomen (abdomen) … Hemochromatosis: Examination
1st order laboratory parameters – obligatory laboratory tests. Small blood count Differential blood count Inflammatory parameter – CRP (C-reactive protein) Serum iron, plasma ferritin* , transferrin saturation* * (suspected in men > 45%, pre-menopausal women > 35%). Fasting glucose (fasting blood glucose), HbA1c Liver parameters – alanine aminotransferase (ALT, GPT), aspartate aminotransferase (AST, GOT), glutamate … Hemochromatosis: Test and Diagnosis
Therapeutic target Depletion of iron stores Therapy recommendations Use of chelating agents (these form complexes with metals). See also under “Further therapy“.
Obligatory medical device diagnostics. Abdominal ultrasonography (ultrasound of abdominal organs). For primary diagnosis [changes in liver texture indicate liver fibrosis]. Secondary (in follow-up diagnosis) every 6 months for screening of hepatocellular carcinoma (HCC; hepatocellular carcinoma (liver cirrhosis is considered precancerous (possible precursor of cancer)!) [desirable but not yet mandatory, as there is not yet so … Hemochromatosis: Diagnostic Tests
The following symptoms and complaints may indicate hemochromatosis: Early symptoms (nonspecific complaints). Fatigue Arthralgia (joint pain) Symptoms (late symptoms) Diabetes mellitus (diabetes) Hypogonadotropic hypogonadism (hypofunction of the gonads). Cardiomyopathy (heart muscle disease) – structural heart disease that leads to limitation of performance. Liver cirrhosis – irreversible damage to the liver leading to gradual connective tissue … Hemochromatosis: Symptoms, Complaints, Signs
Pathogenesis (disease development) In hemochromatosis, there is an abnormal deposition of iron in the body. This is either due to a genetic defect (inherited in an autosomal recessive manner (4(5) types are distinguished today, with type 1 (mutation in the HFE gene) being the most common in Europe) or arises from another underlying disease. The … Hemochromatosis: Causes
