Life with Familial Chylomicroenemia Syndrome

On the occasion of the World Day of Familial Chylomicronemia Syndrome we talked to Rosa Perez, president of the Spanish Association against Familial Chylomicronemia and patient of this rare disease.

Rosa's story begins with an erroneous diagnosis that led her to suffering and discomfort for years. "I was misdiagnosed with familial hypertriglyceridemia and lived with it for years," she explains, recalling how her life was marked by suffering and medical confusion. At the age of 42, she finally received the correct diagnosis: familial chylomicronemia, a genetic condition that affects fat metabolization and can lead to severe episodes of pancreatitis. Only 6 years have passed since then.

Currently, he has a diagnosis of Familial Chylomicroenemia, defined according to Orphanet, as a rare disease characterized by an excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which biochemically manifests as severe hypertriglyceridemia.

"For as long as I can remember, I've dealt with really bad tummy aches. No matter what I did, I woke up every morning and knew the pain would be there," she says with a mixture of frustration and resignation. The complexity of her life makes her day-to-day life a constant exercise in uncertainty.

Rosa says that, like many rare diseases, her pathology does not manifest itself in the same way in each patient. In fact, out of six siblings in her family, only she and her sister have the same disease and both developed it, due to the genetic component transmitted by their parents. Despite sharing it, its manifestations are completely different in both sisters.

Symptomatology and daily limitations

Pancreatitis, an acute inflammation of the pancreas and a symptom (or consequence of this rare pathology), can be devastating. "I've had 27 episodes of pancreatitis. Each time my pancreas suffers inflammation, irreversible damage is done," Rosa explains. With each attack, Rosa has had to face not only the physical pain, but also the emotional and psychological impact of hospitalization and living with a disease that, at any moment, could have cost her her life.

However, the symptomatology of chylomicronemia is not limited to the pancreas. In addition to pancreatitis, patients with this rare disease may suffer from hepatosplenomegaly, which is enlargement of the liver and spleen, or eruptive xanthomas, which are accumulations of fat under the skin.

"Any food I eat can become an enemy. Having a natural yogurt for breakfast already consumes most of the fats that my body can tolerate", Rosa admits sadly. She describes how, after each meal, she must be on alert. "I can't eat anything that contains fats or sugars, because my body doesn't metabolize them correctly and it can give me a lot of problems, even though for the rest it is a food that could never be bad for them.

For this reason, Rosa's eating routine is quite strict in terms of food restriction: "At breakfast, I drink skim milk and whole wheat bread. At lunch, my plate must be balanced: half cooked vegetables, a quarter carbohydrates and a quarter proteins. Other than that, I can't eat." This approach has not only shaped and limited her diet her entire life, but has also impacted her social life.

"Social gatherings often revolve around food, and that has limited me enormously. At birthdays or dinners with friends, which involve a special meal, I sometimes can't go or I can't eat anything that everyone else eats," she confesses, resigned.

The emotional impact of living with a rare and chronic disease is profound. "It's a backpack I carry everywhere I go. There are days when the burden is not only heavy, but exhausting," she says. Rosa recognizes that the struggle with the disease goes beyond the physical symptoms: social pressure and the expectations of daily life add another layer of difficulty.

That is why, in 2018, in a consultation with two doctors, Ovidio Muñiz and Pedro Valdivieso (the latter recently deceased and to whom Rosa refers with special affection), Rosa and other patients - among whom is also her sister - decided to create the Association of Patients with Familial Chylomicronemia.

The Association

"It all started at a meeting with two doctors who knew our disease very well because they were the ones who treated my sister and me. We realized that there was an urgent need to create a supportive community for the few of us who had this disease," she relates. Since then, the association has grown and become a safe space for those facing the same disease and, with it, the same symptoms and challenges. "Our mission is to make the disease visible, help other patients and encourage research. We want more people to know about this condition and for doctors to be better informed to avoid misdiagnoses, as mine was," explains Rosa.

To date, the association has 46 registered members, including patients from several Latin American countries. "We have established connections with doctors in Latin American countries, who know the disease and its symptoms, and can help these patients receive a proper diagnosis and treatment," he says proudly. The association not only provides support, but also acts as a bridge that facilitates interaction between patients and specialists.

Rosa goes out of her way to stress the importance of raising awareness about rare diseases, not only in the medical community, but also in the general population. "People need to know that there are diseases as peculiar as ours," she stresses.

Many patients suffer without a clear diagnosis because doctors, not being familiar with the peculiarity of the symptoms, cannot treat it correctly.

Therefore, the need to invest in more research and allocation of resources is another crucial point in his speech. "Research is fundamental to develop new treatments. If we don't invest in it, patients will continue to suffer and, in many cases, and as a consequence of an accumulation of situations, they could lose their lives," he says with determination.

Precisely in line with this discourse, Rosa believes that collaboration between patients, doctors and organizations is vital to advance in the understanding of the disease. Like any rare disease, its approach must be multidisciplinary: "I have several medical visits with my usual specialists and of all kinds. Despite everything, I still take good care of myself, I can't afford not to," she explains.

Besides pancreatitis, Rosa has noticed that many people with chylomicronemia also suffer from migraines. "There are no studies to confirm it, but all the patients I know have this problem. I think it is a consequence of the accumulation of fat in the organism," she says.

The importance of helping

Rosa feels deeply grateful for the support she has received throughout her illness, especially since her correct diagnosis. "Sometimes, and I understand, patients who go to consultations and consultations and don't find their problem, can be desperate. But truly, from here I say that there are exceptional doctors and that more and more, there are advances in the diagnosis and treatment of our disease the medical community can be discouraging, but there are also exceptional doctors who know how to help our cases," she says. She has been fortunate to have professionals who have gone out of their way to help her navigate her disease.

The work in the association has also been a lifesaver for Rosa. "Despite the difficulties, being president of the association gives me a sense of purpose. I feel I am doing something meaningful. If I can help others find answers, it helps my head, my emotional well-being. If someone can benefit from what we have learned, then all this effort is worth it," she concludes with determination.