People affected by genetic high cholesterol have a message for the world.
This month’s JAMA Cardiology features an international call to action from the global community impacted by familial hypercholesterolemia, or FH. The genetic disorder produces elevated cholesterol levels that don’t adequately respond to lifestyle changes or traditional treatment.
FH emerged as a public health priority in 1998, with the publication of World Health Organization recommendations. But more than 20 years later, only one in 10 patients is diagnosed and effectively treated.
That fact prompted the global FH community to issue updated public policy recommendations as a wake-up call to the world. Aimed at reducing FH’s burden on families, clinics and communities worldwide, the updated recommendations call for:
1. Awareness. The general public should better understand FH, the call to action asserts. So should public and medical educational institutions, health care systems and the larger medical community.
2. Advocacy. Implementing the new recommendations depends largely upon advocacy organisations that bring together patients and health care providers. Country- and region-specific advocacy organisations can “lead in enhancing patient-centered care,” the call to action notes.
3. Screening. The call to action encourages screening for FH, followed by testing and diagnosis based on cholesterol levels or genetic testing.
4. Access. In 1998, the World Health Organization recommended “unrestricted access” to treatment and cholesterol-lowering medication. Updated recommendations note that newer medications like PCSK9 inhibitors are not available everywhere. The call to action also emphasizes that treatment should begin in childhood and continue throughout life.
5. Recognizing severe FH. When FH entails LDL cholesterol levels higher than 400 mg/dL, or is inherited from both parents, separate clinical guidelines should apply.
6. A family approach. Shared decision-making and a family-based care plan are important for this genetic condition that can span generations, the call to action makes clear.
7. Registries. Adequately funded FH registries can help identify the gaps between guidelines and real-world clinical care. Registry data can increase FH awareness and facilitate screening too.
8. Research. Continued research at the genetic, clinical and population health levels can improve FH care.
9. Including patient values. FH care should encompass the values of both family and society. Factors could include extended life expectancy, impact on productivity and years without disability.
The updated recommendations reflect insights from FH patients, policymakers, advocates and scientific experts, as well as the authors of the 1998 recommendations. The Familial Hypercholesterolemia Foundation and the World Heart Federation led the process, which included more than 40 advocacy organisations.
By identifying policy gaps and emboldening patient advocacy organisations, the global FH community aims to turn the tide for affected people worldwide. “The policies advocated herein,” the call to action concludes, “may help to achieve long-term prevention goals for millions of people….”