Office of Genomics and Precision Public Health and Division for Heart Disease and Stroke Prevention (adapted)
1- #Awareness should be enhanced regarding the importance of FH as a global public health issue. Without general awareness of the need for detection and treatment #beginning #earlyinlife, risk of #heart-disease, #stroke, #aneurysms, #carotid-disease (CD), #peripheral-artery-disease (PAD), #erectile-dysfunction (ED) and #cardiac-sudden-death (CSD) in #youngpeople will remain elevated for the estimated 34 million individuals.
2- Establishment of the country- or region-specific Advocacy Organizations is important. They should be a partnership of #Carriers, #Patients, #Families, #Physicians, #PatientAdvocates, #MedicalGeneticists, #publichealthprograms, and policymakers. The specific toolkit should be developed to understand the determinants of #healthcarepolicy, health technology process, communication, and information dissemination.
3- Diagnosis of FH should be performed according to country-specific guidelines. #Diagnosis may be based on #clinicalhistory, #familyhistory, #clinicalfeatures, #LDL-C, #non-HDL-C, and #Chol levels, associated with traditional risk factors, chronic diseases, and management for optimal care. A specialized #MedicalGeneticist is crucial for #Definitive clinical diagnosis, #Geneticcounseling pre-and-post-genetic testing, long term #lifestylesmodifications, #primary and #secondaryprevention, #risks of #recurrence, #planning for future #children and #pregnancymanagement.
4-Treatment for FH to prevent premature #heartdisease, #stroke, #aneurysms, #CD, #PAD, #ED, #CSD should be patient-centric, available, and affordable with a #multidisciplinarycenters with #MedicalGeneticist specialized in #FH. Ideally, #treatment should #begininchildhood and #continuethroughoutlife.
5- Separate guidelines should be created for #severeFH defined as either the presence of #severe clinical history and #familyhistory or #severe #LDL-C levels and #non-HDL-C. Specialized centers for FH diagnosis and management are required for optimal care.
6- A family-based care plan should be developed with opportunities for #carrier, #patient, and #family involvement and shared decision-making. The model of care is best served via integration of primary and tertiary centers with #MedicalGenetics, Specialized Physicians in FH to diagnosis and management of the family, with knowledge in #EthicsIssues of #GeneticTests, #ChildHumanRights, and social support.
7- Registries can allow Medical researchers and public health professionals to quantify current practices, identify gaps between guidelines and healthcare delivery, publish outcome metrics, identify areas for future resource deployment, disseminate and define #bestmedicalpractices, and facilitate #FHawareness and diagnosis.
8- Additional medical research is crucial to understand the genetic and environmental factors in inherited lipid disorders, their natural history, the development of #prematureatherosclerosis, interventions to halt disease progression and the safety and efficacy of new and existing #lipid lowering drugs. Implementation of medical science can help identify contextual factors and design successful implementation strategies within local and regional health care delivery systems.
9- Understanding the cost and value of FH care are crucial both for the #family and society. Metrics including increased life expectancy and gained years of life without disability and lost productivity are necessary.