An HoFH patient describes his diagnostic journey following years of symptoms.
Peter, a resident of San Diego, was diagnosed with homozygous familial hypercholesterolemia (HoFH) at age 27 by an alert urgent care physician. In hindsight, Peter had displayed symptoms of this rare cardiovascular disease as a teenager (e.g., fatigue, skin spots) but was undiagnosed since his lipid profile was never properly examined.
HoFH is a rare genetic disorder that results in severe impairment of the low-density lipoprotein receptors (LDL-R). The end result is extremely high levels of LDL-cholesterol (LDL-C), (e.g., > 400 mg/dL or 10mmol/L) that do not respond well to standard lipid-lowering strategies. Patients with HoFH are at risk for premature atherosclerotic disease and cardiac events.
Peter is currently taking evinacumab to manage his HoFH. Evinacumab is a monoclonal antibody that binds to angiopoietin-like 3 (ANGPTL3), a protein involved in lipid metabolism. Two other drugs currently available and approved to treat HoFH are evolocumab and lomitapide.
To learn more about evinacumab, visit https://www.evkeeza.com/s/
To learn more about HoFH and other cardiovascular conditions, visit https://checkrare.com/diseases/heart-diseases/