Familial hypercholesterolaemia commonly presents with Achilles tenosynovitis

Area of Science:

• Cardiology
• Genetics
• Rheumatology

Background:

• Heterozygous familial hypercholesterolaemia (HeFH) is a genetic condition causing high cholesterol levels.
• Patients with HeFH often develop tendon xanthomata (TX), particularly in the Achilles tendons.
• Untreated HeFH significantly increases the risk of premature coronary heart disease.

Purpose of the Study:

• To investigate the prevalence of Achilles tendon pain episodes in individuals with HeFH prior to their formal diagnosis.
• To assess whether Achilles tendon pain can serve as an early indicator for HeFH.

Main Methods:

• A cohort of patients with definite HeFH (identified via Simon Broome criteria) attending a lipid clinic was studied.
• Participants completed questionnaires detailing symptoms related to their Achilles tendons.
• A control group of unaffected spouses or partners was included for comparison.

Main Results:

• Nearly half (46.6%) of HeFH patients reported experiencing episodes of Achilles tendon pain lasting over three days, compared to only 6.9% of controls.
• Pain episodes in HeFH patients were often severe and lasted a median of four days.
• While 26.3% of HeFH patients consulted doctors for this pain, it did not lead to an HeFH diagnosis in any reported case.

Conclusions:

• Achilles tendon pain is a common, yet often undiagnosed, symptom in patients with HeFH.
• Measuring serum cholesterol levels in individuals presenting with painful Achilles tendons could facilitate earlier diagnosis of HeFH.
• Early diagnosis and treatment of HeFH can mitigate the risk of cardiovascular complications.