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Homozygous Familial Hypercholesterolemia: the story of Valentina, on treatment since she was 1 year old

There are diseases of which little is said, but this does not mean that they do not exist, on the contrary. One of these is theHomozygous familial hypercholesterolaemia, of which the world day on september 24th, just to put it in the spotlight.

Valentina’s story

Valentina is 29 years old and is a critical area nurse. He discovered he had homozygous familial hypercholesterolemia at the age of 1 years approximately. “The first alarm bell was there appearance of orange spots (xanthomas) on the body, in particular on the elbows, knees and in the back of the thighs – says Valentina – My parents, worried, immediately turned to the pediatrician who, having doubts about the possible cause, advised us to consult a dermatologist .

Arriving at a specialized dermatological clinic, the head physician immediately asked if there were any cases of hypercholesterolemia in the family (my parents are both hypercholesterolemic heterozygotes) and from there all the genetic tests and the tests that led to my diagnosis of homozygous familial hypercholesterolemia ».

How did you get this news? “Initially I was too young to be able to become aware of the situation, in fact, I don’t have many memories of the first five years of life. I begin to have some memories since I was taken in charge at the Policlinico Umberto I in Rome to carry out the plasmapheresis sessions at the age of five. The first few times I made the Milan-Rome journey, taking the train and traveling made me feel lucky. But when I then began to understand why I was going to Rome, I didn’t like traveling so much anymore ».

What impact has the disease had on a physical and psychological level? «My mom tells me that she often dressed me in clothes that could cover the xanthomas, even in summer, because many mothers asked her what I had and were skeptical of letting their children play with me, thinking it was a contagious disease.

Since the discovery of my condition I have been prescribed one diet free from animal fats, sweets, fried … in fact, at the nursery school I was the only child who did not stop in the canteen for lunch, but returned home. School, especially in elementary and middle school years, was the area that was most affected by my trips to Rome. For example, I didn’t take the class photo for several years as it was always taken on a Thursday when I was in therapy. For the same reason, very often I had to give up school trips because it was close to or coinciding with the day I had to be at the Polyclinic for plasmapheresis ».

How did you approach the therapy? «Shortly before the age of five I started the treatment with plasmapheresis at the Umberto I hospital in Rome and the sessions were carried out every two weeks. In 2006, when I was 15, after a year of not being able to do plasmapheresis due to difficult access to my veins, they gave me a fistula. At that point my mother tried to make sure that I could be treated in Milan, even though I was not yet of age. At that time, plasmapheresis in Lombardy was reserved only for adult patients. Fortunately, my mom was able to have me take charge at a Milanese center, the Niguarda hospital in Milan.

After about a year of plasmapheresis at Niguarda, the fistula closed. For this reason, the doctors suggested that I try drug therapy. I started therapy with a drug that was not available in Italy at the time, theezetimibe (my mom and brother went to Switzerland to pick it up), which luckily allowed me to keep the values ​​under control. In the meantime, every two years I went to Rome to do a control coronary angiography, to make sure that I did not have possible complications due to hypercholesterolemia.

The real turning point, however, came a few months before my 18 years. The Niguarda doctors told me about a trial on an oral drug that had just ended in America and that had given very positive results. In Italy the experimentation would begin shortly after and I could have been a candidate candidate. When I turned 18, I signed the consent to participate in the trial and started treatment with this new therapy.

With the new oral therapy in capsules I reached levels of cholesterol in the blood that I had never reached before: I did not exceed 100 mg / ml. In addition, I was lucky enough to tolerate the drug very well, without having any particular side effects.

I have been treated with this drug for 10 years. After the experimentation, in 2019, the Lombardy Region was struggling to find the drug and therefore the oral therapy in capsules was replaced with another drug which, however, not only did not give the same results in terms of values, but also had a most unfavorable and troublesome method of administration (three subcutaneous punctures every 15 days).

In 2020, also thanks to the health emergency from Covid-19, which made travel and access to the Niguarda more difficult, I looked for another center in Lombardy that would treat hypercholesterolemia closer to home. Also, I wanted to restart treatment with oral capsule therapy.

I then turned to the Bassini hospital in Cinisello Balsamo, which agreed to take care of me and so, after having undergone the necessary tests and checks, I was able to restart oral therapy. At the moment I am taking a lower dosage than two years ago, but the values ​​are back to being very good ».

How are you today? «Today I can play one normal life, without any kind of particular waiver. I can carry out any type of activity, both work and leisure, and I don’t have too many restrictions from the point of view of nutrition. When I talk about hypercholesterolemia people often think that it is “simply” high cholesterol and they tend to diminish, they hardly know the homozygous pathology and all its consequences».

Have you ever contacted patient associations? Which? “When I was being treated at the Policlinico Umberto I in Rome, an association called ANIF (National Association of Familial Hypercholesterolemia), of which my mom was vice president. I recently became aware of the existence of the GIP-FH (Italian Group of Familial Hypercholesterolemia Patients), which I know that it carries out information activities on the pathology and offers useful services to patients. In addition, it is now promoting an awareness-raising initiative on the pathology ».

What message would you like to send to people about this pathology? «To patients with homozygous familial hypercholesterolemia I would suggest never to underestimate any symptoms and to be constant in therapy and attentive to possible complications.

Today living with this pathology is possible. With the therapeutic approaches of the past perhaps it was more difficult, but giant steps have been made in terms of therapies and knowledge. Today the options available to be able to live with a good quality of life are many. The important thing is to recognize the pathology, have the appropriate pharmacological tools and act as soon as possible!».


PRIMARY OR FAMILY HYPERCHOLESTEROLEMIA: WHAT YOU NEED TO KNOW

L’primary or familial hypercholesterolemia (FH) is an inherited disease in which a genetic alteration causes extremely high levels of cholesterol in the blood. In particular, the LDL cholesterol (Low Density Lipoproteins), the so-called “Bad cholesterol”.

This disease can occur in two different forms: a less serious one, heterozygous (1 case every 200-250 individuals approximately) and one more serious, omozigote (1 case every 3,000,000-1,000,000 individuals).

The shape heterozygous (HeFH) is often asymptomatic and is only diagnosed based on researching blood cholesterol levels. The liver struggles to eliminate LDL because LDL receptors are produced in insufficient numbers, resulting in an increase in the blood 2 or 3 times the normal values. This form can lead to an increased risk of cardiovascular disease in adulthood.

The shape omozigote (HoFH), on the other hand, is characterized by the onset of cardiovascular diseases even at a young age and by the presence of characteristic accumulations of fat such as xantomi (yellowish nodules on the knuckles and Achilles tendon) e xantelasmi (yellowish plaques on the eyelids and around the eyes).

The genetic defect is inherited from both parents and, the risk of heart attack in the absence of therapy, it is already observed around 15-20 years of age. In fact, in this condition, the liver is unable to metabolize the lipoproteins that remain in the blood and therefore accumulate leading to the dysfunctions already illustrated and creating a situation incompatible with life.

It should be noted that the cholesterol, usually demonized, is instead a component of lipids very important for life because it is used for the formation of cell membranes (to ensure their function) and protects neurons and cranial nerves. Cholesterol is also used for the synthesis of other molecules, including bile acids (important for digestion), some hormones and Vitamin D. Only if present in excess, with respect to these needs, it can cause serious damage.

In case of hypercholesterolemia, cholesterol accumulates in the blood in the form of light lipoproteins (LDL), particular aggregates of fats and proteins, also called “bad cholesterol” which favor the formation of plaques in the artery wall (atherosclerotic plaques).

This happens when patients have cholesterol levels so high that they cannot eliminate it through the physiological mechanisms of the liver. The accumulation of LDL in the blood eventually leads to the formation ofateroma (a physical encumbrance to normal blood flow), which can lead to aftermath more serious such as angina, heart attack, stroke, in the heart, but also in other organs such as brain, kidneys, lungs and the liver itself.

Until recently, homozygous familial hypercholesterolemia was considered an incurable disease: therapy based on statins, in fact, it is not effective on this pathology. Statins, drugs that act on the mechanisms that lead to the production of endogenous cholesterol, cannot stimulate the synthesis of LDL receptors.

To eliminate LDL cholesterol from the body, one must resort to plasmaferesi, a technique that allows you to filter the blood by eliminating fat, similar to what is done with dialysis when the kidneys are not working. However, it is an invasive procedure with a negative impact on patients’ quality of life.

In recent years, research has led to the development of specific drugs (as the lomitapide, which is taken orally) also for the homozygous form of familial hypercholesterolemia, significantly improving the expectation and quality of life of patients who suffer from it.

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