Dr Ali-Qureshi says the FH Foundation estimates that only about 10% of people with FH have been diagnosed. “Diagnosis is essential as we can then begin early treatment that will lower the risk for heart disease or stroke,” she explains.
While lifestyle treatments are helpful in lowering cholesterol, in cases of FH, patients, including children, often need medication too. In the UAE, there are three main types of medication, namely statins, which inhibit cholesterol production; ezetimibe, which decreases intestinal cholesterol absorption, and PCSK-9 inhibitors, which are normally used if statins and ezetimibe are insufficient.
“The earlier the intervention, the better the outcomes, especially in cases of homozygous FH, which is more difficult to treat and which can cause children to suffer from cardiac events,” says Dr Ali-Qureshi.
She explains that FH can be either heterozygous, which is more common, or the less common homozygous type, depending on whether the condition is inherited from one or both parents.
The FH Foundation estimates that about 1 in 250 people worldwide has heterozygous FH, characterised by very high LDL cholesterol (above 190 for adults or above 160 for children) and a family history of high cholesterol, heart disease or stroke. In contrast, the Foundation says around 1 in 300,000 people globally has homozygous FH, which is characterised by extremely high levels of LDL cholesterol and symptoms can be seen in childhood.
According to Dr Ali-Qureshi, genetic testing can confirm cases of FH, and cascading testing can be performed to identify all affected individuals within a family. In addition, genetic counselling can help couples to assess the associated risks. It is her hope that the country or region will one day be able to establish an FH registry. The aim of the registry would be to get all FH patient records on one database – according to UAE laws and ensuring privacy of the data – thereby allowing for the information to be analysed and leading to improved patient care.
Dr Ali-Qureshi will receive her Fellow of the National Lipid Association (FNLA) Award at the Annual Scientific Sessions in Orlando, Florida, US. According to the NLA, the award is reserved for members who have made significant regional and/or national contributions to the science and practice of clinical lipidology.
FH Awareness Day was established in 2012 by the FH Foundation to raise awareness of familial hypercholesterolemia worldwide.
