Many HoFH Cases in Children Go Undiagnosed

From October 7-11, 2022, the AAPNational Conference & Exhibition offered insight into clinical practices, trends, and other important information within the pediatrics specialty. According to Contemporary Pediatrics, the Family Heart Foundation presented a study which found that mild-to-moderate cases of homozygous familial hypercholesterolemia (HoFH) are not only underdiagnosed, but significantly undertreated. 

To discover this information, the Family Heart Foundation analyzed data from the CASCADE FH Registry. They found that, in comparison to adult patients with homozygous familial hypercholesterolemia, pediatric patients with HoFH who were not treated had worse effects related to LDL-C levels. In these children, cardiac disease often manifested by a median age of 8.9, although cardiac disease was also seen in children aged three or younger. Those who developed cardiac disease at a younger age also often required liver transplants between ages 4-8. 

Unfortunately, the study shared, many children who did receive a diagnosis had severe HoFH. Those with mild or moderate cases were often undiagnosed, misdiagnosed, and undertreated. 

As a result, Dr. Mary P. McGowan, MD, the CMO for the Family Heart Foundation, advocates for early and universal cholesterol screenings to identify those with familial hypercholesterolemia (FH) at younger ages. This could help identify people with either the homozygous or heterozygous forms. Through this earlier identification (and thus earlier treatment), Dr. McGowan believes that lives can not only be improved, but saved.

What is Homozygous Familial Hypercholesterolemia (HoFH)?

Familial hypercholesterolemia (FH) is a rare inherited form of high cholesterol. Often resistant to conventional treatment options, FH can cause early strokes, heart attacks, or even death. FH can be heterozygous (HeFH) or homozygous (HoFH). HoFH is the more serious and severe form, affecting an estimated 1 in every 300,000 people. Without treatment, HoFH can cause heart disease that begins in early teenage years (or sometimes earlier). The “bad cholesterol” levels in people with this condition is often 4x higher than normal. 

So what causes HoFH? APOB and PCSK9 gene mutations have been implicated in its inheritance. Because HoFH is inherited in an autosomal recessive pattern, individuals must inherit one defective gene from each parent. Symptoms can (but do not always) include:

  • Corneal Arcus (a half-circle of gray, white, or yellow cholesterol deposits around the outer edge of the cornea)
  • Chest pain
  • Shortness of breath
  • Xanthomas (cholesterol buildup which causes lumps, often on the tendonss of the hands, fingers, and Achilles heel, though they can be found elsewhere)
  • Rapid heartbeat
  • Cholesterol buildup under the skin of the eyelids

Learn more about HoFH from the Family Heart Foundation.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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