Global analysis: Homozygous FH often undertreated
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Homozygous familial hypercholesterolemia, although rare, is frequently undertreated, especially in non-high-income countries, and is sometimes diagnosed after atherosclerosis or aortic stenosis is already present, researchers reported.
According to an analysis of global data published in The Lancet, achievement of guideline-recommended LDL levels in patients with homozygous familial hypercholesterolemia (HoFH) was lower in non-high-income countries, where the average age of first major CV events occurred more than 10 years earlier.
“HoFH is a rare disease that remains grossly underdiagnosed and undertreated worldwide. The extent of this knowledge gap is still only partially understood, as most information until now came from studies from high-income countries and mostly in European ancestry cohorts,” Marina Cuchel, MD, PhD, research associate professor of medicine at the University of Pennsylvania Perelman School of Medicine, said in a press release. “I hope that this study will help increase the awareness of this condition in both physicians and policymakers, so that country-specific strategies can be widely and systematically implemented for the early identifications of these patients and for appropriate and equitable access to effective medications when needed.”
A global analysis of HoFH
To better understand the characteristics of HoFH as well as its clinical diagnosis and outcomes, researchers utilized the HoFH International Clinical Collaborators registry to identify 751 patients from 38 countries with HoFH. Within this cohort, 75% had biallelic pathogenic variants of HoFH.
The median age at HoFH diagnosis was 12 years (52% female; 64% white; 23% Asian; 13% Black or mixed race).
According to the study, major manifestations of ASCVD or aortic stenosis were already present in 9% of the cohort by the time of initial HoFH diagnosis.
Average LDL level before treatment initiation was 14.7 mmol/L and was lower among patients living in high-income countries compared with those in non-high-income countries (13.5 mmol/L vs. 15.8 mmol/L). Modifiable risk factors were similar between high- and non-high-income countries.
Data on lipid-lowering therapies and LDL values were available in 513 patients. Attainment of guideline-recommended LDL level was low overall (12%). Patients living in higher-income countries had lower on-treatment LDL level (3.93 mmol/L vs. 9.3 mmol/L); more frequent use of three or more lipid-lowering therapies (66% vs. 24%); and a greater likelihood of achieving guideline-recommended LDL levels (21% vs. 3%) compared with those from non-high-income countries.
Outcomes in HoFH
A total of 37 deaths were recorded, of which 76% were attributed to CV causes (median age, 28 years). The first major adverse CV event occurred a decade earlier in non-high-income countries, at a median age of 24.5 years, compared with 37 years in high-income countries (adjusted HR = 1.64; 95% CI 1.13-2.38).
According to the study, the earliest recorded age at which angina pectoris was reported was 4 years; for MI and PCI, 10 years; and for CABG, 5 years.
“This disease has been, and continues to be, very difficult to treat, but in the last decade or so a lot of progress has been made and currently several treatments are available that, if added together, can significantly lower the LDL-C levels and delay the onset of cardiovascular disease,” Cuchel said in the release. “Thus, all guidelines recommend early detections and immediate initiations of lipid-lowering treatment at diagnosis. Unfortunately, implementation of guidelines is poor, the condition remains undetected until too late and, once the diagnosis is made, access to the most advanced treatment is not always available.”
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