Living with Familial Hypercholesterolemia

For more than three decades, Patient A (a healthcare professional) lived by the book when it came to health. No alcohol. No smoking. A diet carefully balanced to be low in cholesterol. To anyone looking in, she appeared to be doing everything right to protect her health.

Her family history told a different story. Her mother, uncles and aunt had all been diagnosed with high cholesterol in their 40s. Despite strict diets, five of them eventually succumbed to heart failure in their 50s and 60s. “Only making lifestyle changes was not enough,” she reflects.

The turning point came last year, when her daughter — still in her twenties — went for a routine health screening at work. High cholesterol was detected, and she was referred to FHCARE, a clinical research programme supported by PRECISE, at Khoo Teck Puat Hospital (KTPH). Genetic testing confirmed her daughter had familial hypercholesterolemia (FH) — a genetic condition that affects how the body manages cholesterol.

“At first, I was stunned,” Patient A recalls. “All these years we just thought it was high cholesterol. We never imagined it was something genetic.”

Encouraged by her daughter’s diagnosis, she underwent testing herself. In February, she too was diagnosed with FH. The news landed harder than expected. “Even though I wasn’t surprised, my anxiety doubled,” she says. “Why? How? What now? I did not even know what I needed to know.”

That was when support from the FHCARE team became invaluable. With guidance from doctors and genetic counsellors, she learned about the importance of cascade screening — the practice of testing family members of an affected individual — and began medication early. She was also connected to the FH Advocacy Circle, a support group where families living with FH share experiences and access reliable information.

“Understanding the genetic aspect helps us make sense of FH, which is a chronic condition,” she explains. “It meant my daughter and I could act decisively, rather than rely only on lifestyle changes, which had not been enough for my uncles and aunt.”

Today, Patient A is thriving. Her condition is stable, and she only needs to attend follow-ups every nine months. More importantly, she has become an FH ambassador, helping to build a supportive community for patients and families.

“The unknown can be fearful,” she says. “But there’s no need to avoid it.”

How can I share my story?

You can email us at contact@precise.cris.sg with a short summary of your experience or interest. Our communications team will follow up with you to guide the process.