**Core Concept**
Familial combined hyperlipidemia (FCHL) is a genetic disorder characterized by elevated levels of various lipids, including cholesterol and triglycerides, due to mutations in multiple genes affecting lipid metabolism. This condition often presents with a family history of premature cardiovascular disease.
**Why the Correct Answer is Right**
FCHL is the most common cause of genetic dyslipidemia, accounting for approximately 50% of cases. It is caused by mutations in genes encoding enzymes involved in lipid metabolism, such as apolipoprotein B (Apo B), lipoprotein lipase (LPL), and other lipid-regulating proteins. The elevated levels of LDL cholesterol, triglycerides, and sometimes HDL cholesterol in FCHL patients increase the risk of developing premature CAD. The condition often presents with a family history of cardiovascular disease, making it essential to identify and manage FCHL in high-risk individuals.
**Why Each Wrong Option is Incorrect**
**Option B:** Familial hypercholesterolemia (FH) is a distinct genetic disorder caused by mutations in the LDL receptor (LDLR) gene, leading to extremely high levels of LDL cholesterol. While FH is a significant risk factor for CAD, it is less common than FCHL.
**Option C:** Familial defective Apo B is a rare genetic disorder caused by mutations in the Apo B-100 gene, leading to impaired binding of LDL receptors to Apo B-containing lipoproteins. This condition is less common than FCHL and typically presents with elevated LDL cholesterol levels.
**Option D:** Apo C-II deficiency is a rare genetic disorder affecting the activity of lipoprotein lipase (LPL), leading to elevated triglyceride levels. While Apo C-II deficiency is a significant cause of hypertriglyceridemia, it is less common than FCHL and typically presents with isolated hypertriglyceridemia.
**Clinical Pearl / High-Yield Fact**
FCHL often presents with a family history of premature CAD, making it essential to screen first-degree relatives of affected individuals for lipid abnormalities. Early identification and management of FCHL can significantly reduce the risk of cardiovascular disease.
**β Correct Answer: A. familial combined hyperlipidemia**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.