Burden of disease and treatment in real-world HoFH cohort

A retrospective observational study among US patients with homozygous familial hypercholesterolemia (HoFH) showed a high prevalence of ASCVD, suboptimal use of concomitant lipid-lowering therapies, and suboptimal LDL-c control.

This summary is based on the publication of Gu J, Ma X, Park J, et al. - High burden of disease in patients with homozygous familial hypercholesterolemia despite recent advances in therapies and updated guidelines: A real-world study. J Clin Lipidol. 2025 Mar-Apr;19(2):303-309. doi: 10.1016/j.jacl.2024.11.004.

Introduction and methods

Background

Patients with homozygous familial hypercholesterolemia (HoFH) have an increased risk of early onset ASCVD and premature mortality [1-6]. Despite the use of multiple lipid-lowering therapies (LLTs) most HoFH patients fail to achieve guideline-recommended LDL-c goals [7]. To gain a better understanding of the disease burden, as well as insights into the treatment patterns, unmet patient needs, and potential shortcomings in clinical practice, more extensive real-world data in this population are needed.

Aim of the study

The study aim was to assess the real-world burden of disease for patients with HoFH using healthcare claims data.

Methods

In a retrospective observational study, administrative healthcare claims data were extracted from the Komodo Healthcare Map™ database, which is representative of the general US population, for the period October 1, 2015–March 31, 2022 [8]. As there is no International Classification of Diseases, Tenth Revision diagnosis code for HoFH, the researchers could not directly identify HoFH patients in this database and they therefore used 2 sources: (1) prescription claims for evinacumab and lomitapide in the Komodo Healthcare Map database, and (2) data of patients with a physician-confirmed HoFH diagnosis in MyRARE®, a US-based patient support program for commercially available evinacumab [9]. Patients in the MyRARE program were de-identified via tokenization and linked with their Komodo claims data.

The study population comprised 331 patients: 214 with evinacumab or lomitapide claims in the Komodo Healthcare Map database, 195 in the MyRARE program who were tokenized and had claims records in the Komodo Healthcare Map database, and an overlap of 78 patients (i.e., identified in Komodo Healthcare Map database and also enrolled in MyRARE program). LDL-c data were available for 141 participants (42.6%).

Main results

• Mean ± SD age was 53.3 ± 17.4 years, 58.0% were female, and 66.8% had a formal FH diagnosis.
• Of the overall cohort, 223 patients (67.4%) had ASCVD, including 63.4% with CHD, 31.4% with peripheral artery disease, and 11.2% with cerebrovascular disease.
• Other comorbidities included musculoskeletal pain (77.6%) and hypertension (68.6%).
• Almost all patients (n=320; 96.7%) had ever taken an LLT, with 235 (71.0%) receiving high-intensity statins, 77 (23.3%) low/moderate-intensity statins, 194 (58.6%) ezetimibe, 194 (58.6%) PCSK9 inhibitors, 179 (54.1%) lomitapide, 100 (30.2%) evinacumab, and 53 (16.0%) lipoprotein apheresis.
• Most patients (n=175; 52.9%) had been treated with ≤2 concomitant LLTs, whereas 63 (19.0%) had received a 3-drug combination and 29 (8.8%) a ≥4-drug combination.
• The most recent mean ± SD LDL-c level was 163 ± 108 mg/dL.

Conclusion

This retrospective observational real-world cohort study among HoFH patients using US administrative healthcare claims data showed the prevalence of ASCVD was high (67%) and LDL-c control and the use of concomitant LLTs were suboptimal.

Find this article online at J Clin Lipidol.

References

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