Key result
Autosomal recessive hypercholesterolemia presents with a milder clinical phenotype and a 9-fold lower risk of coronary artery disease compared to homozygous familial hypercholesterolemia.
ARH is a rare genetic cause of severe hypercholesterolemia that typically has a milder phenotype and better treatment response than homozygous familial hypercholesterolemia.
Supports ARH differentiation from receptor-negative HoFH for prognosis; leaves open whether genotype informs therapy thresholds.
Autosomal recessive hypercholesterolemia (ARH) is a very rare genetic cause of hypercholesterolemia...
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Constantine E. Kosmas (2017) conducted a review in Autosomal Recessive Hypercholesterolemia. Autosomal Recessive Hypercholesterolemia vs. Homozygous Familial Hypercholesterolemia was evaluated. Autosomal recessive hypercholesterolemia presents with a milder clinical phenotype and a 9-fold lower risk of coronary artery disease compared to homozygous familial hypercholesterolemia.
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