Breaking Barriers in HoFH Treatment: Highlights from 2024
From the long-term success of liver transplantation to the impact of gender on cardiovascular risks, 2024’s most-read articles highlight critical developments in diagnosing and managing this rare genetic disorder.
1. Liver transplantation shows long-term success in treating homozygous familial hypercholesterolaemia
A study found that liver transplantation (LT) significantly reduced LDL-C levels in patients with homozygous familial hypercholesterolaemia, with a mean follow-up of 14.1 years. Despite 1 patient dying from acute myocardial infarction and 2 undergoing aortic valve replacement, the remaining patients showed no symptoms and no significant adverse events related to immunosuppression, indicating high long-term effectiveness of LT in managing homozygous familial hypercholesterolaemia.
Read more here.
2. Gender not a deciding factor in HoFH treatment, but cardiovascular risk differs
A study found that although lipid levels and treatment approaches were similar between male and female patients with homozygous familial hypercholesterolemia, females were diagnosed later and had a slightly lower occurrence of major adverse cardiovascular events (MACE) over a 10-year follow-up period. Despite these differences, no significant sex-based differences in MACE occurrence were found.
Read more here.
3. Sex differences in diagnosis and treatment of homozygous familial hypercholesterolemia
A study found that while men with homozygous familial hypercholesterolemia have a higher prevalence of myocardial infarction (MI), women exhibit a lower cumulative incidence of MI and a trend towards lower all-cause and cardiovascular mortality, despite receiving similar lipid-lowering treatments. The research highlights the importance of early diagnosis and treatment in both sexes to reduce cardiovascular risks, with a noted difference in smoking prevalence between genders.
Read more here.
4. Familial Hypercholesterolemia Awareness Day sheds light on an important genetic condition
Laurence Sperling, MD, founder of the Center for Heart Disease Prevention at Emory University School of Medicine in Atlanta, Georgia, talks with Rare Disease 360 about the importance of recognizing Familial Hypercholesterolemia Awareness Day.
Watch here.
5. What you should know about the diagnosis, treatment, and management of homozygous familial hypercholesterolemia
Carissa Baker-Smith, MD, MPH, associate professor of pediatrics and cardiology at Nemours Children’s Hospital in Wilmington, Delaware, discusses the importance of screening for homozygous familial hypercholesterolemia and the different treatment options for the condition.
Watch here.
