Hemochromatosis in the context of "Malaise"

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⭐ Core Definition: Hemochromatosis

Iron overload is the abnormal and increased accumulation of total iron in the body, leading to organ damage. The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction. Iron overload is often primary (i.e, hereditary haemochromatosis, aceruloplasminemia) but may also be secondary to other causes (i.e., transfusional iron overload). Iron deposition most commonly occurs in the liver, pancreas, skin, heart, and joints.

People with iron overload classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin. However, due to earlier detection nowadays, symptoms are often limited to general chronic malaise, arthralgia, and hepatomegaly.

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Hemochromatosis in the context of Bloodletting

Bloodletting (or blood-letting) is the deliberate withdrawal of blood from a patient to prevent or cure illness and disease. Bloodletting, whether by a physician or by leeches, was based on an ancient system of medicine in which blood and other bodily fluids were regarded as "humors" that had to remain in proper balance to maintain health. It was the most common medical practice performed by surgeons from antiquity until the late 19th century, a span of over 2,000 years. In Europe, the practice continued to be relatively common until the end of the 19th century. The practice has been abandoned by modern-style medicine for all except a few very specific medical conditions. In the beginning of the 19th century, studies had begun to show the harmful effects of bloodletting.

The modern term phlebotomy refers to the drawing of blood for laboratory analysis or blood transfusion. Therapeutic phlebotomy refers to the drawing of a unit of blood in specific cases like hemochromatosis, polycythemia vera, porphyria cutanea tarda, etc., to reduce the number of red blood cells. The traditional medical practice of bloodletting is considered a pseudoscience, though the method is still commonly used in forms of alternative medicine.

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Hemochromatosis in the context of Porphyria

Porphyria (/pɔːrˈfɪriə/ or /pɔːrˈfriə/) is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate. The attacks usually last for days to weeks. Complications may include paralysis, low blood sodium levels, and seizures. Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications. If the skin is affected, blisters or itching may occur with sunlight exposure.

Most types of porphyria are inherited from one or both of a person's parents and are due to a mutation in one of the genes that make heme. They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner. One type, porphyria cutanea tarda, may also be due to hemochromatosis (increased iron in the liver), hepatitis C, alcohol, or HIV/AIDS. The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme. Porphyrias may also be classified by whether the liver or bone marrow is affected. Diagnosis is typically made by blood, urine, and stool tests. Genetic testing may be done to determine the specific mutation. Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda.

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