Pronunciation: [ˌɛfˌe͡ɪt͡ʃˈɛl] (IPA) 
The spelling of the acronym "FHL" can be confusing due to the use of the letter "H" in the middle. However, the IPA phonetic transcription provides clarity: [ɛf.ɛɪtʃ.ɛl]. The first three letters, "F," "L," and "H," simply represent their respective sounds. The "H" in the middle is pronounced as in "hat," making the sound "ɛɪtʃ." This abbreviation can be used in various contexts, such as in a company name or medical terminology.
FHL stands for "Familial Hypercholesterolemia," a genetic disorder characterized by high levels of cholesterol in the blood. It is an inherited condition that affects the body's ability to remove low-density lipoprotein (LDL) cholesterol, often known as "bad" cholesterol, from the bloodstream.
Individuals with FHL have a specific gene mutation that impairs the function of the receptor responsible for clearing LDL cholesterol from the blood. As a result, the excess LDL cholesterol accumulates in the arteries, leading to the development of fatty plaques, or atherosclerosis, which can obstruct blood flow and increase the risk of cardiovascular diseases, such as heart attacks and strokes.
Common symptoms of FHL include the presence of high LDL cholesterol levels in childhood, xanthomas (deposits of cholesterol under the skin), and premature development of heart disease. Prompt diagnosis and treatment are crucial to manage the condition and mitigate its potential complications.
Treatment for FHL typically involves a combination of cholesterol-lowering medications, such as statins, which help reduce LDL cholesterol levels. Lifestyle modifications, including a heart-healthy diet low in saturated and trans fats, regular exercise, and avoiding tobacco use, are also recommended. In severe cases, additional interventions like LDL apheresis, a procedure that filters LDL cholesterol from the blood, may be necessary.
Early identification and intervention in individuals with FHL, along with ongoing monitoring and management of cholesterol levels, play a vital role in preventing or minimizing the impact of associated cardiovascular complications and improving long-term outcomes for affected individuals.
