What is Homozygous Familial Hypercholesterolemia (HoFH) скачать в хорошем качестве

What is Homozygous Familial Hypercholesterolemia (HoFH)

James Underberg, MD, Clinical Assistant Professor of Medicine at NYU Medical School provides an overview of homozygous familial hypercholesterolemia (HoFH). HoFH is a genetic disorder that results in severe impairment of the low-density lipoprotein receptor (LDL-R). The end result is extremely high levels of cholesterol (ie, less than 400 mg/dL or 10mmol/L) that is very difficult, if not impossible, to control with standard lipid lowering strategies. In many cases, genetic mutations in both LDLR genes are responsible for the condition but other genes in the LDL-R pathway have been implicated in HoFH pathophysiology. Historically, the outlook for HoFH patients was extremely bleak but in the past decade, advances in our understanding of the disease have led to a plethora of medications available, or soon to be available, including evolocumab, lomitapide, and evinacumab.