Related articles: Primitive and Secondary Hemochromatosis
Definition
Hemochromatosis is a pathological condition characterized by excessive accumulation of iron. This process is generally systemic (involves the whole organism) and results in tissue damage.
As a rule, the total iron content in the human body is about 2.5 g in women and 3.5 g in men.
The clinical manifestations of hemochromatosis may not be evident until the body's iron concentration is higher than 10g. In women, symptoms are rare before menopause, as blood loss due to the menstrual cycle tends to compensate for the accumulation of iron.
At the base of the hemochromatosis there may be an increased absorption of the metal in the gastro-intestinal tract, from which it follows a chronic deposition of iron in the tissues.
Furthermore, in normal subjects, a hepatic peptide hormone, hepcidin, acts as the main regulator of iron homeostasis. When the production of this peptide is reduced compared to the quantity of mineral, its activity is compromised, therefore it fails to prevent its excessive absorption and storage.
Causes Primary hemochromatosis
Primary hemochromatosis is a hereditary disease in which an alteration of iron metabolism occurs. The causes of the disorder can be attributed to various genetic aberrations, including the HFE gene mutation. The transmission of these anomalies occurs in an autosomal recessive manner.
Primitive hemochromatosis most frequently affects populations of northern European origin, while the disease is uncommon in black and Asian ethnic subjects.
Causes Secondary hemochromatosis
Secondary hemochromatosis may be due to increased iron absorption or excessive oral intake. This pathological condition can also occur due to the administration of exogenous iron as a therapy for anemia or repeated blood transfusions, usually in patients with erythropoiesis disorders (eg hemoglobinopathies such as sickle cell disease, thalassemia, sideroblastic anemias; anemias congenital hemolytic and myelodysplasia).
Most common symptoms and signs *
- Amenorrhea
- Anemia
- Anorexia
- Arrhythmia
- Ascites
- Asthenia
- Testicular atrophy
- Decline in sexual desire
- Cardiomegaly
- Skin discoloration
- Erectile dysfunction
- Abdominal pain
- Hand and wrist pain
- Articolar pains
- Hepatitis
- Hepatomegaly
- Glycosuria
- insulin Resistance
- Hyperglycemia
- Jaundice
- Lethargy
- Nausea
- Weight loss
- itch
- Water retention
- Drowsiness
- splenomegaly
Further indications
The clinical consequences of iron overload are similar regardless of etiology and pathophysiology.
Hemochromatosis causes early systemic and non-specific symptoms, mainly due to an accumulation of the mineral in the endocrine organs (especially pancreas, gonads and pituitary glands), in the liver and in the heart. In any case, the onset of serious tissue damage is slow and insidious.
In the early stages of hemochromatosis, weakness and lethargy occur. In men, the initial symptoms may be hypogonadism and erectile dysfunction caused by the gonadal deposition of iron. Frequent early manifestations are also glucose intolerance or diabetes mellitus. Other common clinical manifestations include cutaneous hyperpigmentation (bronzy diabetes), arthropathy, abdominal pain, loss of libido and amenorrhea.
Liver involvement is the most frequent complication and can develop into cirrhosis; in addition, around 20-30% of patients develop hepatocellular carcinoma. The hepatic picture is the most frequent lethal complication, followed by cardiomyopathy with heart failure.
Primary hemochromatosis - Diagnosis and Treatment
Diagnosis is based on positive family history, serum ferritin dosage, and genetic analysis outcome. The suspicion of primary hemochromatosis may be advanced when combinations of clinical manifestations remain unexplained after routine evaluations.
In general, the treatment involves periodic bleeding to eliminate excess iron and clinical monitoring with serum iron, ferritin and transferrin saturation.
Secondary events are managed as needed. In addition, patients with primary hemochromatosis must follow a balanced diet; it is not necessary to limit the consumption of foods containing iron (eg red meat, liver, etc.). Alcohol should instead be taken in moderation, as it can increase the absorption of the mineral and, in high quantities, the risk of cirrhosis.
Secondary hemochromatosis - Diagnosis and Treatment
The diagnosis of secondary hemochromatosis arises through the analysis of serum ferritin, sideremia and saturation of transferrin.
Therapy generally involves the use of iron chelating agents (such as deferasirox or deferoxamine). Some cases can be treated with phlebotomy and erythropoietin, however salassotherapy is not recommended for many patients, given that it can worsen the existing anemic state.
