M42’s Imperial College London Diabetes Centre Raises Awareness of Rare Cholesterol Disease with Call for Early Detection and Treatment

On the Homozygous familial hypercholesterolaemia (HoFH) Awareness Day, Imperial College London Diabetes Centre joins the global community to raise awareness about the rare, inherited and life-threatening condition that results in extremely high cholesterol levels from birth.

HoFH is the most severe forms of Familial Hypercholesterolemia (FH), occurring when a child inherits two altered copies of the FH gene, one from each parent. If left undiagnosed or untreated, HoFH can lead to aggressive cardiovascular disease, often beginning during childhood or adolescence.

Despite its rareness, HoFH represents a serious global health concern. Estimated to affect 1 in 300,000 people worldwide, so approximately 34 million individuals worldwide, HoFH Awareness Day serves as a critical reminder of the need for increased awareness, early diagnosis and timely treatment. With growing access to genetic screening and specialised care in Abu Dhabi, earlier detection and early intervention is increasingly achievable.

At Imperial College London Diabetes Centre’s Lipid Clinic, Consultant, Internal Medicine Dr. Sarah Qureshi provides expert care for individuals with complex lipid disorders, including HoFH, aided by a diagnostic process, which involves sending blood samples from suspected patients to M42’s Biogenix Labs for genetic testing using its next-generation sequencing (NGS) technology.

“HoFH is often underdiagnosed due to its rarity, but early detection and proactive management are critical,” said Dr. Sarah Qureshi. “At our Lipid Clinic, we adopt a multidisciplinary approach to support patients in managing their cholesterol levels and reduce long-term cardiovascular risks. By increasing awareness, we can improve earlier diagnosis and better patient outcomes.”

As part of this awareness initiative, Dr. Qureshi will host an online public session on 14 May, 2025 from 3pm-4pm to help raise understanding of HoFH, including symptoms and available treatment options. Details of the session and how to participate will be shared on Imperial College London Diabetes Centre’s official social media channels.

The Centre encourages people with a family history of high cholesterol or premature heart disease to get screened. Early diagnosis can be lifesaving.