Familial Hypercholesterolemia with Bilateral Recurrent Extensor Tendon Xanthomas: A Case Report

Heterozygous familial hypercholesterolemia (HeFH) is a prevalent hereditary disorder. It is defined as high cholesterol and low-density lipoprotein levels from birth, which increases the risk of developing cardiovascular disease at a young age. Despite its considerable prevalence, HeFH is frequently underdiagnosed, especially in groups of people with poor socioeconomic backgrounds. Early diagnosis and proper treatment are necessary to decrease cardiovascular problems.

We report a 37-year-old female from a rural area. She presented five years ago with non-specific knee pain and cosmetic distress due to bilateral nodules. There was a history of multiple excisions for tendon xanthomas (five times) since age 16, alongside high LDL-C levels (400-600 mg/dL). During the physical examination, the knees and elbows exhibited several tendon xanthomas, and blood tests confirmed elevated cholesterol levels. To confirm the diagnosis of evident HeFH, we followed the Dutch Lipid Clinical Network guidelines. She was put on the proper medication and given a five-year follow-up.

Tendon xanthomas are characteristic signs that are often viewed as cosmetic concerns rather than indicators of potential vascular problems. Managing HeFH involves making lifestyle changes and using medications to lower cholesterol; however, many patients struggle to reach the normal level of LDL. So, there is a continuous need for screenings to avoid cardiovascular risks. The case highlights the importance of early diagnosis and treatment of patients with HeFH, emphasizing the need for lipid-lowering therapy and family cascade screening.