FAMILIAL HYPERCHYLOMICRONEMIA Meaning and
Definition
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Familial Hyperchylomicronemia, also known as Type I Hyperlipoproteinemia or Type 1B hyperlipoproteinemia, is a rare genetic disorder characterized by the inability to break down certain types of fats called triglycerides, leading to high levels of triglycerides in the blood.
In this disorder, there is a deficiency or dysfunction in an enzyme called lipoprotein lipase (LPL), which plays a crucial role in breaking down triglycerides. As a result, these fats accumulate in the blood, leading to abnormally high levels known as hypertriglyceridemia.
Individuals with familial hyperchylomicronemia might experience various symptoms such as abdominal pain, recurrent pancreatitis (inflammation of the pancreas), eruptive xanthomas (fatty deposits under the skin), hepatosplenomegaly (enlargement of the liver and spleen), and lipemia retinalis (milky appearance of the retinal blood vessels).
The disorder is typically inherited in an autosomal recessive pattern, meaning that an affected individual inherits two copies of the abnormal gene, one from each parent. The severity of symptoms and age of onset can vary among individuals.
Treatment for familial hyperchylomicronemia involves adopting a low-fat diet and avoiding triggers such as alcohol and high-glycemic index carbohydrates. Medications like fibrates or omega-3 fatty acids may be prescribed to help lower triglyceride levels. Regular monitoring of blood lipid levels and managing other risk factors like obesity and diabetes is also important to prevent complications associated with high triglyceride levels, such as cardiovascular disease.
Common Misspellings for FAMILIAL HYPERCHYLOMICRONEMIA
- damilial hyperchylomicronemia
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Etymology of FAMILIAL HYPERCHYLOMICRONEMIA
The term "Familial Hyperchylomicronemia" is a medical term that describes a rare genetic disorder characterized by high levels of chylomicrons in the blood.
1. Familial: The word "familial" indicates that this disorder is hereditary and runs in families. It comes from the Latin word "familia", meaning family.
2. Hyperchylomicronemia: The word "hyperchylomicronemia" is derived from three parts: "hyper", "chylo", and "micronemia".
- "Hyper" is a Greek prefix meaning "over" or "excessive".
- "Chylo" is derived from the Greek word "chylos", which refers to the milky white appearance of chyle, a fatty substance that circulates in the lymphatic system.
Idioms with the word FAMILIAL HYPERCHYLOMICRONEMIA
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familial hyperchylomicronemia
