The overlooked driver of heart disease

Letter January 29, 2025
The overlooked driver of heart disease

The overlooked driver of heart disease
A few months ago, a friend tearfully called to share the devastating news of her young brother’s sudden death from a heart attack. He was one of the fittest people I knew, making his passing at such a young age deeply shocking. Within just four months, I had come across three similar cases — seemingly healthy, vibrant individuals who unexpectedly lost their lives to heart-related causes.
These personal tragedies lingered with me, underscoring a troubling reality. As I observe young people around me ignoring heart health, it’s clear that Pakistan is grappling with a growing cardiovascular crisis.
One of the hidden drivers of Pakistan’s growing cardiovascular disease crisis is Familial Hypercholesterolemia (FH), a genetic disorder that causes dangerously high cholesterol levels from an early age, significantly increasing the risk of premature heart disease. Tragically, FH often goes undiagnosed, leaving many unaware of the silent threat within. The encouraging news is that early diagnosis can prevent fatal cardiovascular events. 
Recent research underscores the gravity of this issue. The Health Data Science Centre at Aga Khan University analysed nearly 1 million lipid profiles across Pakistan from 2009 to 2018, spanning 289 laboratories and 94 districts. The findings were alarming: nearly 1 in 35 to 1 in 40 lipid profiles showed signs of FH, defined by a LDL cholesterol, commonly known as “bad cholesterol” of ≥190 mg/dL. For context, the normal range for LDL cholesterol is typically less than 100 mg/dL.
Pakistan lacks comprehensive data on FH’s prevalence, particularly among younger populations, women, and those in rural areas, where consanguinity rates are higher. This data is essential for shaping effective healthcare interventions, guiding resource allocation, and improving health outcomes. Without this data, critical gaps in the diagnosis, prevention, and treatment of FH will persist, leaving many at risk of preventable heart disease.
Undiagnosed and untreated FH, compounded by a lack of awareness and literature, leaves many at risk of premature heart disease. To reduce the burden of cardiovascular disease in Pakistan, early diagnosis is essential. Family screening, timely statin therapy (a type of cholesterol-lowering medicine) for individuals with above-average LDL-C levels, and the promotion of healthier dietary habits can prevent the devastating consequences of FH. Equally important is raising awareness, supporting ongoing research, and enacting policies that address this potent threat.
By prioritising these efforts, we can take decisive steps toward a healthier, heart disease-resistant future for all Pakistanis.
Dr Zainab Samad
Co-author Syeda Nadia Bokhari
AKU, Karachi