How Do You Spell FAMILIAL HIGH DENSITY LIPOPROTEIN DEFICIENCY DISEASE?

Pronunciation: [famˈɪlɪəl hˈa͡ɪ dˈɛnsɪti lˈɪpəpɹˌə͡ʊtiːn dɪfˈɪʃənsi dɪzˈiːz] (IPA)

Familial High Density Lipoprotein Deficiency Disease is a rare genetic disease that affects the body's ability to process cholesterol. The word is spelled as /fəˈmɪliəl haɪ ˈdɛnsɪti lɪpəʊˈprəʊtiːn dɪˈfɪʃənsi dɪˈziːz/ in IPA phonetic transcription. The complex spelling of the disease highlights the importance of accurate medical terminology, as a simple mistake could lead to a misdiagnosis. Those with this disease typically have low levels of HDL cholesterol, which results in an increased risk of developing heart disease.

Meaning and Definition
Common Misspellings
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FAMILIAL HIGH DENSITY LIPOPROTEIN DEFICIENCY DISEASE Meaning and Definition

  1. Familial High Density Lipoprotein (HDL) Deficiency Disease is a genetic disorder characterized by abnormally low levels of HDL cholesterol, commonly known as "good cholesterol," in an individual's bloodstream. HDL cholesterol plays a crucial role in transporting excess cholesterol from various tissues and organs back to the liver for elimination, thereby reducing the risk of plaque buildup in arteries.

    The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene responsible for producing HDL cholesterol must be mutated for the disease to manifest. This mutation affects the functionality of proteins involved in the metabolism and transportation of HDL cholesterol, leading to reduced levels of the lipid in circulation.

    Individuals with Familial HDL Deficiency typically exhibit elevated levels of low-density lipoprotein (LDL) cholesterol, also known as "bad cholesterol," which is associated with an increased risk of atherosclerosis and heart disease. They may also present with other lipid abnormalities, such as elevated triglycerides.

    Symptoms of the disease can include fatty deposits in the skin (xanthomas), premature atherosclerosis, cardiovascular problems, and an increased risk of developing heart disease at a relatively young age. However, the severity of symptoms can vary widely among affected individuals.

    Treatment for Familial HDL Deficiency Disease focuses on managing associated lipid abnormalities and reducing cardiovascular risk through lifestyle modifications, such as maintaining a heart-healthy diet, exercising regularly, and avoiding smoking and excessive alcohol consumption. Medications, such as statins and fibrates, may also be prescribed to optimize lipid profiles and decrease the risk of complications. Genetic counseling may be recommended for individuals and families affected by this condition.

Common Misspellings for FAMILIAL HIGH DENSITY LIPOPROTEIN DEFICIENCY DISEASE

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