All articles tagged with #familial hypercholesterolemia
Researchers screened thousands of compounds in lab-grown human liver cells and identified DL-1, a triazine thiol, that lowers apoB and reduces total cholesterol without causing fatty liver; in mice with humanized livers, a soluble DL-27 version lowered cholesterol metrics, suggesting a safer alternative for severe inherited high cholesterol (familial hypercholesterolemia) beyond current statins.
Researchers at the Medical University of South Carolina are pursuing a treatment for familial hypercholesterolemia by reducing apoB, the backbone of LDL particles, using human iPSC-derived liver cells to screen about 130,000 compounds. A lead class lowered apoB release and cellular lipid levels in human cells and in humanized mice, bypassing the LDL receptor and potentially helping patients with defective receptors. Further work will clarify the mechanism, safety, and how such drugs could complement existing therapies like statins.
The 2026 ACC/AHA Guideline on Dyslipidemia consolidates evidence-based recommendations, retires the 2018 cholesterol guideline, and stresses earlier lifestyle measures from childhood along with earlier pharmacotherapy for familial hypercholesterolemia and high LDL-C. It also adopts the PREVENT-ASCVD risk equations to guide lipid-lowering therapy in adults aged 30–79, aiming to improve ASCVD prevention.
Dr. Ahmed highlights subtle signs of high cholesterol that can appear on the hands, feet, and face, such as tendon xanthomata, xanthelasma, and corneal arcus. These symptoms may indicate familial hypercholesterolemia, a genetic condition often treated with statins. High cholesterol is typically confirmed through a blood test, and managing it is crucial to prevent serious health issues like heart attacks and strokes. Lifestyle changes and medication may be recommended to lower cholesterol levels.
Angelica Pierce was diagnosed with high LDL cholesterol at 15 and struggled for years to manage it with diet and exercise alone. After transitioning to a primary care doctor at 20, genetic testing revealed she had familial hypercholesterolemia, a genetic disorder causing high LDL cholesterol levels. Non-statin cholesterol-lowering therapy has since helped her condition, leading to better control of her health and improved relationship with food and exercise. Pierce's experience has also helped her mom and grandma advocate for appropriate treatment, and she hopes to inspire other women to stand up for their health.
Brandon Wilson, 38, has lost multiple family members to heart disease caused by familial hypercholesterolemia, a genetic disorder leading to high LDL cholesterol. He has survived four major heart attacks, seven coronary stents, and a stroke, and struggles with anxiety and PTSD. His children have inherited genetic markers for high cholesterol, prompting him to advocate for awareness and healthy habits to break the family curse of heart disease.