Lipids & metabolic liver disease
Homozygous Familial Hypercholesterolemia in Spain: Data From Registry of the Spanish Atherosclerosis Society
Authors' conclusion
The current situation of HoFH in Spain is better than expected, with marked reductions in LDLc levels with new treatments. In this population, recommended LDLc goals are difficult to achieve despite maximum lipid-lowering therapy. ASCVD has been reduced and delayed by 2 decades.
Study context
- Population
- Subjects with homozygous familial hypercholesterolemia (HoFH) confirmed by 2 pathogenic variants (LDLR, APOB, PCSK9 or LDLRAP1), National Dyslipidemia Registry of the Spanish Atherosclerosis Society, 2013 to June 2023; 40.8% women, aged 52 [24–62] years57 adults and 13 children
- Participants
- 71 subjects
- Outcome
- Diagnosis, ASCVD, lipid-lowering treatment and LDLc control
- Follow-up
- Median 7 [4-13] years
Methodological detailsnational registry, genetically confirmed HoFH
- National registry
- Genetically confirmed HoFH
Main finding
As reported in the abstract
- Age at diagnosis, years
- 14 [2-26]
- Atherosclerotic cardiovascular disease (ASCVD) at diagnosis
- 10%
- Current ASCVD
- 27%
- Age with current ASCVD, years
- 40.6 (13.4)
- On PCSK9 inhibitors
- 38%
- On lomitapide
- 9 patients
- On LDL apheresis
- 9
- On evinacumab
- 1 patient
- Subjects with >4 therapies achieved LDLc reduction
- >80%
- Median LDLc at last visit, mg/dL
- 139.3 [89.4-204.2]
- Meeting recommended LDLc goal, primary prevention
- 18%
- Meeting recommended LDLc goal, secondary prevention
- 10%
Observational data: associations, not effects.
Further findings
Factors associated with ASCVD
| Relative risk (CI) | P value | ||
|---|---|---|---|
| Male sex | 5.26 (1.53–18.10) | P < 0.05 | |
| Family history of ASCVD | 2.53 (1.03–6.26) | P < 0.05 | |
| 0.050.21520Relative risk (log scale) |
Original publication
Homozygous Familial Hypercholesterolemia in Spain: Data From Registry of the Spanish Atherosclerosis Society. J Clin Endocrinol Metab. Published 8 November 2024. doi:10.
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