How Do You Spell FAMILIAL DYSBETALIPOPROTEINAEMIA?

1. Familial dysbetalipoproteinaemia, also known as type III hyperlipoproteinemia or remnant removal disease, is a rare inherited metabolic disorder characterized by abnormal lipoprotein metabolism. It is caused by a genetic mutation in the ApoE gene, which provides instructions for making a protein called apolipoprotein E. This mutation results in the production of abnormal apolipoprotein E, leading to the accumulation of cholesterol and triglycerides in the bloodstream.

   Individuals with familial dysbetalipoproteinaemia often have xanthomas, which are yellowish cholesterol deposits under the skin, particularly on the elbows, knees, or buttocks. They may also develop a condition called corneal arcus, characterized by a ring of cholesterol deposits around the edge of the cornea.

   The main clinical feature of familial dysbetalipoproteinaemia is the development of atherosclerosis, a gradual buildup of plaque in the arteries that can lead to various cardiovascular diseases, such as angina, heart attack, or stroke. Symptoms related to these conditions may include chest pain, shortness of breath, fatigue, or neurological deficits.

   Diagnosis of familial dysbetalipoproteinaemia is typically confirmed through blood tests, which reveal elevated levels of cholesterol and triglycerides, particularly after meals. Genetic testing may also be performed to identify the specific mutation in the ApoE gene.

   Treatment for familial dysbetalipoproteinaemia mainly involves lifestyle modifications, including a balanced diet low in saturated fats and cholesterol, regular exercise, and weight management. Medications such as statins and fibrates may be prescribed to further control lipid levels.

Common Misspellings for FAMILIAL DYSBETALIPOPROTEINAEMIA

The word "familial dysbetalipoproteinaemia" is a combination of several terms:

1. Familial: This word is derived from the Latin word "familia", which means "family". It refers to conditions or traits that are hereditary and commonly found within families.

2. Dysbetalipoproteinaemia: This term is composed of three parts.

- Dys-: A prefix indicating abnormality, difficulty, or impairment. It comes from the Greek word "dys", meaning "bad" or "difficult".

- Beta: Referring to beta-lipoproteins, which are a type of protein responsible for transporting cholesterol and triglycerides in the bloodstream.

- Lipoproteinaemia: Combining "lipo-" (meaning "fat") and "proteinaemia" (meaning "abnormal presence of proteins in the blood").

Plural form of FAMILIAL DYSBETALIPOPROTEINAEMIA is FAMILIAL DYSBETALIPOPROTEINAEMIAS