He was born with it and did not know it until a heart attack put his life at risk. Rosa Pérez, 58 years old, suffers from a silent and potentially fatal disease if it is not detected in time: familial hypercholesterolemia (FH). “She doesn't show her face until you have the first coronary event or any other heart disease,” she says about a genetic disorder whose most unequivocal sign is having very high levels of LDL cholesterol.
Rosa, who works as an Auxiliary Nursing Care Technician (TCAE) at the Virgen de la Arrixaca University Clinical Hospital (Murcia), is one of the 200,000 people who suffer from this hereditary disease in Spain. People with familial hypercholesterolemia have an alteration in a gene that decreases LDL receptors, responsible for eliminating cholesterol in the blood. This causes their LDL cholesterol level to be extremely high from birth and throughout life, which causes premature coronary heart disease in adulthood.
Without detecting or treating, the consequences of this condition can be fatal for those who suffer from it. According to the Global Call to Action on Familial Hypercholesterolemia report, prepared by a global panel of experts and published in 2020, there are 34 million people worldwide with the disease and 90% are undiagnosed. “Familial hypercholesterolemia is a poorly recognized and poorly managed public health problem, when it could be a model of preventive medicine and precision medicine,” says Dr. Pedro Mata, president of the Familial Hypercholesterolemia Foundation, which brings together patients and specialists. sanitary.
“Familial hypercholesterolemia greatly increases the risk of having heart attacks, embolisms or strokes at very early ages and up to 20 years earlier than the rest of the population,” explains, for her part, Dr. Cristina Soler, specialist in internal medicine at the Hospital de Santa Caterina (Girona). “There are studies that indicate that young patients—in men over 17 years old and women over 25—are already beginning to have vascular atherosclerosis problems due to this disease,” warns the specialist.
In her first tests and before the cardiovascular events, Rosa's LDL cholesterol levels were 400 mg/dl, when the optimal levels for the general population must be below 115 mg/dl. But no doctor who treated her at that time associated it with this disease. She experienced the serious consequences of the late diagnosis and at the age of 40 she had her first heart attack. Her testimony is the visible face of one of the data that Dr. Soler provides: half of the people with hereditary familial hypercholesterolemia who do not receive treatment will have a heart attack before the age of 55.
Rosa's path has not been easy. The first heart attack and the diagnosis of her familial hypercholesterolemia were accompanied by various coronary interventions and readjustments with the treatment. “Being a young woman and leading a healthy life did not make me a candidate for a coronary event,” says Rosa, looking back at her. In addition, her high cholesterol levels could be associated with other diseases. For both patients and medical specialists, the key is to discover if the high number has genetic causes. “Diagnosing the disease is not complicated. The most important thing is to suspect it,” says Dr. Soler.
“If we detect very high cholesterol levels, that is when we should have the suspicion that we are facing a hereditary disease,” warns the specialist at the Santa Caterina Hospital, for whom the alert should increase if there is a family history of very high cholesterol, heart attacks or other vascular events. To detect it, specialists collect clinical data, based on criteria tables and assigning a score to different items, such as family cholesterol levels. “If the score is above 8, the result is a certain diagnosis. We do the definitive test with a genetic test,” adds Dr. Soler.
To combat the disease more successfully, all relatives of the affected person should be studied and undergo a genetic test to rule out or confirm new suspicions. And finding a patient with familial hypercholesterolemia opens the door to finding other cases and, consequently, to limiting future complications and improving the quality of life of those who suffer from it. Among Rosa's relatives, on her paternal side, there had been several cases of cardiovascular events, although what worried her most would come after her.
At 7 or 8 years old, her son's cholesterol levels were already very high. Genetic testing showed that he also had the disease. Today, the young man carries it with consistency and naturalness: he takes the appropriate medication, follows a healthy lifestyle and his daily life is normal. “The detection of the disease has been very important for him and for his future children. All future generations will benefit,” says his mother, excitedly. “Early detection is important because it can give us a survival that is equal to any person who does not have the disease, it gives us quality of life like the rest,” says Rosa.
For experts, it is essential that patients adapt their entire way of living to their health. A healthy lifestyle will help reduce cardiovascular risk, as well as lower LDL cholesterol. “It is key that they follow a Mediterranean diet, low in fat, that they exercise daily because it improves our cardiovascular system, but, in addition, they must control other risk factors such as obesity and tobacco,” highlights Dr. Soler. “We have to try to reduce LDL cholesterol, but since lifestyle methods are usually not enough, they must be combined with pharmacological treatment,” insists the specialist.
People with familial hypercholesterolemia must be consistent with the prescribed treatment and rigorous with their lifestyle habits. Rosa takes oral medication, is treated with injectable drugs and attends the relevant check-ups. Thanks to this, she keeps her cholesterol levels stable, but her derived cardiovascular ailment must also be treated.
“Of course we have to cure and alleviate, but above all we have to prevent. This is the first objective of medicine. We must do prevention and achieve detection as soon as possible,” defends, for his part, Dr. Pedro Mata. For him, patients would have to be detected and diagnosed in childhood. “That would be ideal because, from the age of 10 or 12, we could treat them with drugs and prevent cardiovascular disease,” he says.
In this sense, the Familial Hypercholesterolemia Foundation is working to have a plan for detecting the pathology approved in Spain and pilot studies are already being carried out in two public hospitals in Andalusia screening newborns for the disease. “With a little prick in the heel, two drops of blood are extracted and we could measure cholesterol levels. For those who have them above the appropriate values, we would do the genetic test. And, automatically, we could detect one of the parents and thus extend it to the rest of the family,” says Dr. Mata about the future test.
The objective would be that it could be extended and established throughout the country since, if familial hypercholesterolemia is diagnosed in time and treated appropriately, cardiovascular events can be prevented. “Every adult should have a cholesterol study at least once in their life,” defends Dr. Soler in terms of prevention.
Currently, one of the main tools continues to be to deepen society's awareness, teaching about this genetic disorder, and getting health professionals to immediately appreciate that this hereditary disease may be behind a high level of cholesterol. “There is a lot of ignorance. I always put a lot of emphasis on the dissemination of familial hypercholesterolemia,” Rosa remarks. For her, treating her illness is a constant struggle, although, fortunately, she continues to emerge victorious.
