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Maria Nassif

Patient Ambassador for FH Europe

profile picture of the heart hero

May 4th marks the first HoFH Awareness Day – here is one heart hero’s story about living with a high cholesterol disorder

Maria Nassif is positive and vibrant, looking forward to each day and grateful for it. At 31 years of age, she is already a Patient Ambassador for FH Europe (FH Europe Foundation), spreading the word to demystify and destigmatize Familial Hypercholesterolemia and in particular Homozygous Familial Hypercholesterolemia (HoFH). In sharing her journey, Maria urges early detection through a combination of possible screening approaches including universal pediatric screening, and “cascade screening” of patients’ close relatives.

The culprit in FH is LDL cholesterol – the “bad” kind of cholesterol — produced in overabundance due to a gene mutation, causing early heart attacks and premature death. Approximately 34 million people worldwide are known to have FH, a genetic disease inherited in one of two ways. With Heterozygous Familial Hypercholesterolemia (HeFH), one gene mutation is passed from a parent to their child; Homozygous Familial Hypercholesterolemia (HoFH) is a more severe and rare form which occurs when both parents have the gene, and both are inherited by the child.

“FH (HoFH) is a chronic disorder from which there is no escape,” says Maria Nassif. “I was diagnosed at three years old. In my mid-teens, I began to understand that I have a chronic disease and to explore everything I can about HoFH. Twice per month, I undergo LDL apheresis, a process to filter extra hundreds of milligrams of cholesterol from the bloodstream that could end up blocking my arteries.”

One of Maria’s brothers came to France as a student and also has HoFH. That is how he discovered that the treatment in France is more efficient than the one in Lebanon. Luckily, another brother has not inherited the gene. She joined her brother in France where a world of advanced care and treatment options opened up for them.  Maria describes bouts of chest pressure and discomfort and suffering from anaemia. Learning that her heart arteries were 98 per cent blocked meant that she underwent open-heart surgery at 24 years of age.

“Growing up in Lebanon and throughout my school life, being labelled as a sick person impacted my self-image and confidence. The fatty skin deposits (xanthomas) brought on by excess cholesterol were visible as bumpy discolorations all over my body. Moving to another country has given me a new lease on life. I can access top notch care and go about my daily activities and enjoy recreation, travel, hobbies, and a job that sometimes requires extensive site visits. I continue to follow my treatment plan that includes statins and to do LDL apheresis every two weeks. I eat well and have yoga and Pilates routines that work for me.”

It is not uncommon for patients with FH to experience a cardiovascular event as early as at 30 years of age. Patients as young as in their 40s and 50s are also at high risk and even patients in early childhood could experience cardiovascular symptoms or a heart attack if they inherited HoFH.

Low awareness including in some medical circles is partly the reason that only about 10 per cent of individuals born with FH have been diagnosed worldwide. Furthermore, many people do not develop visible symptoms that could serve as a lifesaver.

Early diagnosis and lifelong treatment of FH that is efficient and targeted reduces the risk of premature cardiovascular disease and heart attacks. Screening of first- and second-degree relatives should therefore include parents, children, aunts and uncles, nieces and nephews, and grandparents of an individual diagnosed with HoFH. Diagnostic criteria include a blood test that would pinpoint the disease and set in motion a treatment plan to which everyone should have access.

Living with FH entails lifelong care. In addition to screening and affording all patients the chance for best treatment, developing registries that capture the true extent of the disease worldwide and of interventions and care options is a critical step. Greater awareness and research will strengthen management plans for the disease including family-based care plans and help avert sudden and often tragic cardiovascular events for patients still in their prime.

“At the FH Europe Foundation, I have found my community,” says Maria. I would like to see awareness, treatment and psychological support prioritised for facing diagnosis, to get past current limitations so that everyone can have a solid chance to thrive. For these changes to happen, I hope we get our leaders and decision-makers in health, finance, and policy-setting, from government to the medical community, to be empathetic towards patients and to show this by their actions. Good health shouldn’t be a luxury.”

In 1998, the World Health Organization (WHO) officially recognized familial hypercholesterolemia as a global public health issue and published a set of 11 recommendations to address its burden. In the past two decades, tremendous scientific progress has been achieved in the fields of genetics, lipidology, cardiology, and drug development. In January 2020, representatives from the global FH community published a Global Call to Action and highlighted a new set of recommendations, in 9 areas of priority, to reduce the clinical and public health burden of familial hypercholesterolemia.

Homozygous Familial Hypercholesterolemia (HoFH) is an ultra-rare inherited condition characterized by extremely high and life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth, leading to significant premature cardiovascular morbidity and mortality. The disorder affects an estimated 1 in 300,000 people, which amounts to nearly 30,000 individuals worldwide. Alarmingly, data from registries indicate that fewer than 5% of people living with HoFH receive an accurate and timely diagnosis. In the absence of interventions, individuals living with HoFH typically exhibit symptoms of advanced atherosclerotic cardiovascular disease before 20 years of age, sometimes even in childhood. As such, early detection and adequate treatment are crucial in preventing and managing premature heart disease in affected individuals.