Patsy's story

FH has had an unknown impact on my family

''I first discovered I had very high cholesterol (total 10.7) in 2002 at the age of 36. I was hospitalised following an episode of sudden and prolonged chest pain at work.  After an ECG and other investigations, including some blood analysis, a heart-related problem was discounted, and I was diagnosed with an oesophageal spasm and apparently unrelated but concerning elevated cholesterol.

As a result, my GP prescribed statins which I continued to take regularly until 2017, when my GP changed.  This new GP was concerned that my readings were not as low as they would have expected, despite the levels of medication I was on.  They suggested that I might have a genetic, inherited condition called familial hypercholesterolaemia (FH) and so they took a blood sample for genetic analysis. The test result proved positive for heterozygous FH and I was put on different medication.

Though borderline satisfactory, my readings are now considered to be well controlled.  I am monitored annually by the lipid clinic and, fortunately, I have not suffered a cardiac event of any kind. I eat healthily and am careful not to snack between mealtimes and try to moderate my portion size.  To maintain good health and prevent weight gain, I exercise routinely with gym weight management, aerobic exercise classes and playing badminton.  

There is a history of heart attacks and strokes on both sides of my family, and my parents were treated for high cholesterol. FH has had an unknown impact on my family and may continue to do so.  Since my diagnosis, I have been able to alert my younger sister and her 3 children to the possibility of genetic testing and cascade screening, to determine whether or not they have inherited this condition too and whether or not they should seek their own medical advice.

HEART UK have provided me with great support, helpful information and advice since my diagnosis.  Their booklets for patients and medics, as well as the resources on their website are excellent.  I have been able to consult their specialist nurse with questions about my condition and treatment, which is very reassuring.  I have also managed to expand my knowledge of FH and other inherited lipid conditions. 

Last year I became a HEART UK Ambassador (the only active one in Scotland) and am very active in FH patient advocacy and fundraising, which is so worthwhile and very rewarding.  I hope to help others with this potentially life-threatening condition and save lives.''