People with a rare inherited cholesterol condition in Wales see improved outcomes through a new specialist treatment

People in Wales with a rare inherited cholesterol condition are benefiting from evinacumab, a new specialist cholesterol lowering treatment to help reduce the risk of serious heart disease, made available by the NHS Wales Joint Commissioning Committee (NWJCC).  

Homozygous Familial Hypercholesterolaemia (HoFH) is a very rare genetic condition that causes extremely high levels of “bad” cholesterol from birth. Without effective treatment, people with HoFH are at high risk of developing severe cardiovascular disease at a young age.  

Before the new treatment, patients were already receiving standard cholesterol lowering treatments. For some, this included apheresis, an intensive hospital based procedure used to remove cholesterol from the patient by filtering it out of the blood. Evinacumab was introduced, alongside standard treatments, for patients whose cholesterol levels did not sufficiently decrease despite receiving mainstay treatment.  

 
We’re pleased to be able to share early outcomes from patients treated in Cardiff and Vale University Health Board show that the new treatment is delivering clear benefits, with patients experiencing a reduction in cholesterol of around 50%, helping to lower their long-term risk of heart disease. 

For some patients, treatment with evinacumab reduced the need for apheresis. In one case, the frequency of treatment was reduced by half, helping to lessen disruption to daily life and reduce the overall treatment burden. 

Patient feedback gathered through a survey highlighted strong satisfaction with the treatment, alongside helpful, practical feedback on areas such as appointment length and venous access. Patients spoke highly of the care they received, with one describing the unit as “unbelievable” and another noting that the treatment was “very efficient,” with little that could be improved. This feedback is supporting ongoing learning and future service improvements. 

Iolo Doull, Medical Director at NWJCC said: “People living with rare conditions often have limited treatment options. National commissioning allows us to bring specialist expertise and treatments together to benefit patients.  

“By commissioning evinacumab, NWJCC has expanded treatment options for people with HoFH, offering additional support where existing treatments were not sufficient and helping to deliver improved outcomes for people with rare and complex conditions across Wales.”  

In 2025, access to evinacumab was approved through national commissioning led by the NWJCC. The Committee brings together health boards in Wales to agree which specialist services are funded nationally, supporting access to expert care for people with rare or complex conditions.  

Patients across Wales can receive treatment at specialist centres in Birmingham, Manchester, and at Cardiff and Vale University Health Board, ensuring equitable access wherever they live.