Familial hypercholesterolemia (FH) is an inherited form of very high cholesterol. Early treatment is needed for those living with FH to lower cholesterol levels and reduce the risk of heart attack, stroke, or even death from cardiovascular events. According to Total Croatia News, an estimated 22,000 Croats have FH. However, it is also hypothesized that the condition is severely underdiagnosed, with only an estimated 1% of cases found. Because of this, schools will begin examining and testing students for familial hypercholesterolemia when they enroll in first grade. 

This testing is not abnormal; students entering into primary school in Croatia must undergo a health examination already, so the FH testing is simply being added to the list. The schools will begin testing students for the next school year. If a student has high cholesterol levels, the school will refer that student to a pediatrician for further testing and evaluation. Additionally, if a child is found to have high cholesterol or FH, their doctor will then pursue reverse cascade screening. In this form of screening, the student’s family will also be tested and evaluated for potential FH. 

Familial Hypercholesterolemia (FH): An Overview

As described above, FH is a rare form of high cholesterol that is often resistant to treatment options like statins. Normally, cholesterol is a naturally occurring substance that is created during the animal-based digestion process. Cholesterol plays a role in fat digestion, cell membrane function, and even the formation of certain hormones. However, too much cholesterol can be dangerous and can increase the risk of cardiovascular symptoms. For example, without treatment, some individuals with FH may experience a heart attack or stroke in their 30s and 40s. Early treatment can help reduce the chance of this happening throughout one’s life. 

LDLRAP1, LDLR, PCSK9, and APOB gene mutations have all been implicated in familial hypercholesterolemia. Heterozygous familial hypercholesterolemia (HeFH) is inherited in an autosomal dominant pattern, meaning patients must inherit only one faulty gene. Homozygous familial hypercholesterolemia (HoFH) is inherited in an autosomal recessive pattern, meaning they must inherit two defective genes. FH is more common in those of Lebanese, Afrikaan, French Canadian, and Finnish background, among others. 

Symptoms related to FH can (but do not always) include:

• Xanthomas (cholesterol buildup, often in the tendons of the hands, fingers, and Achilles heel)
• Chest pain that may worsen during exertion
• Xanthelasma (yellowish collections of cholesterol buildup under the skin of the eyelids) 
• Cramping in one or both calves while walking
• Coronary artery disease
• Corneal arcus