HDL Lipoprotein Deficiency Disease, often referred to as Tangier disease, affects the body's ability to produce HDL (high-density lipoprotein) cholesterol. This rare genetic disorder is named after the Tangier Island in Virginia where it was first discovered. The correct pronunciation for "HDL Lipoprotein Deficiency Disease" is /eɪtʃdiːɛl ˈlaɪpəʊprəʊtiːn dɪˈfɪʃənsi ˈdiziːz/, with the emphasis on the first syllable of "lipoprotein" and the second syllable of "deficiency." Early detection and management can manage the symptoms of the disease and improve quality of life for affected individuals.
HDL Lipoprotein Deficiency Disease is a rare genetic disorder characterized by the lack of or low levels of high-density lipoprotein (HDL) cholesterol in the blood. HDL cholesterol, also known as "good cholesterol," plays a crucial role in removing low-density lipoprotein (LDL) cholesterol, commonly referred to as "bad cholesterol," from the bloodstream and transporting it back to the liver for removal from the body.
In individuals with HDL Lipoprotein Deficiency Disease, the decreased levels of HDL cholesterol result in the impaired ability to effectively remove LDL cholesterol, leading to an accumulation of LDL cholesterol in the blood. This can contribute to the development of early-onset atherosclerosis, a condition characterized by the buildup of plaque on the inner walls of the arteries, which can eventually lead to cardiovascular diseases such as heart attacks, strokes, and peripheral arterial disease.
Symptoms of HDL Lipoprotein Deficiency Disease may include high levels of LDL cholesterol, decreased HDL cholesterol levels, premature onset of cardiovascular disease, and family history of early-onset heart disease. However, the manifestation and severity of symptoms may vary among affected individuals.
Treatment options for HDL Lipoprotein Deficiency Disease typically involve lifestyle modifications, including a heart-healthy diet, regular exercise, and smoking cessation. Medications such as statins or other cholesterol-lowering drugs may also be prescribed to manage cholesterol levels. Regular monitoring of cholesterol levels and cardiovascular health is essential to minimize the risk of complications associated with the disease.