Hemochromatosis is a disorder of iron storage leading to increased intestinal iron absorption, causing iron deposition in many tissues and organs, thereby causing damage to many tissues and organs. The classic clinical manifestations of hemochromatosis when the threshold is exceeded are patients with bronze skin, liver disease, diabetes, arthritis, myocardial conduction disorders and hypogonadism. Hemochromatosis is a serious pathological condition of the body because it causes damage to the digestive tract, liver, increases local iron content and increases free radical production.
INTRODUCTION
Hemochromatosis is a disorder of iron storage leading to increased intestinal iron absorption, causing iron deposition in many tissues and organs, thereby causing damage to many tissues and organs. The classic clinical manifestations of hemochromatosis when the threshold is exceeded are patients with bronze skin, liver disease, diabetes, arthritis, myocardial conduction disorders and hypogonadism. Hemochromatosis is a serious pathological condition of the body because it causes damage to the digestive tract, liver, increases local iron content and increases free radical production.
Iron overload Iron overload is a condition in which the amount of iron in the body exceeds the necessary level. The body’s intestines lose the ability to regulate the amount of unnecessary iron, and it accumulates in the liver, causing iron poisoning, which eventually damages other tissues. The amount of iron absorbed by people with iron overload is 3 times the amount of iron absorbed by people without the disease.
This pathology needs to be distinguished from two other terms: Iron Overdose (when the body takes too much iron, more than the necessary amount, it will cause acute iron poisoning. In fact, iron overdose can occur in children due to mistakenly taking iron supplements and multivitamins for adults) and Iron Overload (is chronic iron poisoning with causes due to genetics, receiving a large number of blood transfusions, having chronic hepatitis C or possibly alcoholism).
CAUSES OF IRON OVERCOME
The two main causes of iron overload are: genetic iron overload and acquired iron overload.
‐Genetic factors:In patients born with the disease (due to an inherited HFE gene mutation), the intestines lose the ability to regulate iron and excess iron accumulates in the liver and heart. To detect this disease early, it is necessary to perform a test to measure the amount of ferritin in the serum and in liver biopsy specimens.
‐Due to hereditary mutations in the HDB Flat Eligibility (HFE) gene (human homeostatic iron regulator protein, also known as HFE protein (high FE2+), a transmembrane protein encoded by the HFE gene). HFE gene mutations are quite common in people of Northern European descent (1/10 people carry the gene). Heterozygotes are asymptomatic, but homozygotes have clinical manifestations of the disease in about 25‐30%. There is a progressive iron overload condition with clinical manifestations appearing after 30‐40 years of age, usually appearing earlier in men than in women;
‐Secondary or acquired iron overload: Usually due to ineffective erythropoiesis, as in thalassemia or megaloblastic anemia. It is an opportunistic disease, associated with other pathologies such as anemia, liver disease, and diseases related to iron absorption. The HFE gene encodes a protein involved in cellular iron sensing, regulating iron absorption in the intestine. Alcoholic liver disease, long‐term excessive absorption of Fe can be associated with moderate increase in liver iron and increased iron stores in the body.
CLINICAL & PARACLINICAL FEATURES OF IRON OVERCOME
Clinical
Early symptoms: Patients often present with weakness, fatigue, weight loss, bronze or dark skin, unexplained abdominal pain, and loss of libido;
‐ Joint pain, abdominal pain, later symptoms such as loss of sexual desire, diabetes, heart failure, symptoms of the disease often appear with increasing age, especially between the ages of 50‐60 for men and after the age of 60 for women;
‐The liver is enlarged in about 90‐95% of patients, sometimes with liver function tests within normal limits. If left untreated, liver disease progresses to cirrhosis, even contributing to hepatocellular carcinoma in #30% of patients with cirrhosis;
Other manifestations include skin pigmentation (bronzing), diabetes mellitus (65% of patients), arthropathy (25‐59%), cardiac arrhythmias and heart failure (15%), and hypogonadism due to hypogonadism. Diabetes mellitus (DM) is more common in patients with a family history of DM, and hypogonadism may be the only early clinical manifestation;
‐Typical signs of venous hypertension and decompensated cirrhosis may appear late in clinical practice. Adrenal insufficiency, hypothyroidism, and hypoparathyroidism occur rarely.
Figure 1. Iron overload can be intrinsic (iron malabsorption and iron retention) or extrinsic (excessive supplementation).
Paraclinical
Serum iron, transferrin saturation percentage, and serum ferritin levels were increased;
‐In a healthy person, the fasting serum transferrin saturation concentration > 50% is abnormal and suggests homozygous hemochromatosis. In untreated patients with hemochromatosis, serum ferritin levels are also markedly elevated;
‐If either the percent transferrin saturation or the serum ferritin concentration is abnormal, test for genetic markers for iron overload;
Ferritin test is used to measure the amount of iron stored in the body, thereby providing diagnosis and treatment support. Ferritin test is performed to measure the amount of iron in reserve form, to see if the amount of iron stored in the body is excess, deficient or normal;
‐If the patient is suffering from related diseases, this test can be done to easily monitor the disease. Creating a treatment plan from the test results will help the treatment process to be more accurate and faster ‐ that is also one of theFerritin test meaning important;
Ferritin testing may be ordered for several reasons:
- In diagnosis, when there is suspicion of iron deficiency or iron overload, ferritin testing may be recommended to aid in the diagnosis of the disease;
- If an iron deficiency is diagnosed, your doctor may order a ferritin test to monitor your condition and guide treatment;
- Some patients showing signs of fatigue, dizziness, headache, pale skin, decreased libido, loss of spirit, etc. also require this test, because in these cases the risk of high blood Ferritin levels is quite high;
- Use the test in the differential diagnosis of anemia when combining Ferritin content with iron concentration and the body’s iron binding capacity;
- High levels of Ferritin can be found in some diseases such as hemochromatosis when the body stores too much iron in the tissues and organs. Or it can be found in people with a history of multiple blood transfusions, drinking alcohol.iron pillsprolonged iron deficiency without iron chelation, chronic viral hepatitis,…
Factors that contribute to changes in Ferritin test results
- After using radioactive isotopes for scintigraphy;
- After blood transfusion;
- Take iron supplements and foods high in iron;
- Serum contains high concentrations of lipids.
‐All family members of patients with hemochromatosis should be tested for the C282Y and H63D HFE mutations;
Liver biopsy may be indicated in affected patients to assess cirrhosis and quantify parenchymal iron;
An assessment algorithm for a patient with possible iron overload is shown in the box below.
