02/28/2020 - 16:02
- Clarín.com
- Good Life
The campaign was carried out in December, driven by the need to have data on the existence in the country, or not, of family chylomicronemia syndrome, a rare genetic disease that affects a person in one million and is almost 100% of the cases it is confused with other more common pathologies. So, under the hashtag #AyudameAEncontrarlos , the Argentine Society of Lipids (SAL) promoted a movement of awareness and detection of possible undiagnosed patients.
In just over two months, 5 cases have already been confirmed and another 20 are under study, a fact that at the time of celebrating the World Day of Uncommon Diseases can be taken as a novelty, worth the metaphor, positive. Recognizing it is the gateway to a custom treatment, the only possibility for those who suffer from improving their day to day.
Familial chylomicronemia affects an enzyme responsible for metabolizing the fats we eat. Given this impossibility, the triglyceride level is extremely high. The fat accumulates in the blood and it begins to circulate slowly, acquires a "milky" consistency that causes alterations in all systems: it causes chronic abdominal pain, and those who suffer from it can develop diabetes and pancreatitis.
In addition, at the skin level it causes xanthomas, a specific type of rash or rash and at the brain level, cognitive disorders such as memory loss and lack of concentration. "Each patient had a blood test at their local care center. For the genetic test, however, there are two places: the National Genetics Center of the Rivadavia Hospital, where the responsible for the protocol is Dr. Virginia Bañares, and the private laboratory Genia, where the one in charge is Dr. Lorena Levi, "mentioned Juan Patricio Nogueira, president of the SAL and deputy investigator of CONICET.
Severe abdominal pain, one of the common symptoms of familial chylomicronemia.
Those who decided to undergo these simple but forceful evaluations pointed out not knowing the existence of the disease before the campaign launched on the networks . After the dissemination obtained, these people completed a form in which they dumped all the information about their clinical pictures, until then, erroneously diagnosed.
“He is a patient who goes to many offices without giving him a specific answer. This causes you not to feel understood. It is something very sad that contributes to their poor quality of life, ”said Pablo Corral, a specialist in internal medicine, lipidologist and Vice President of the SAL. Giving a name to that set of symptoms, a clinical entity and a medical resolution hitherto insufficient will result in a before and after in the lives of these people.
"All these patients are already treated with lipid-lowering agents (blood lipid reducers), the dose adjustment and / or the addition of another traditional lipid-lowering agent is evaluated, while the process is initiated with the confirmed genetic analysis to access the specific drug for this disease. It is the only drug so far that showed efficacy in reducing triglyceride levels and risk of pancreatitis, "says Nogueira.
Patients with chylomicronemia should completely restrict the intake of fats in their diet.
In turn, the restriction of dietary fat is a slogan that must be complied with. "The fat-free and low-calorie diet is highlighted again, as a nutritional- based therapy that the patient must maintain throughout his life," adds Nogueira. An important clarification: for those reached by this syndrome, the restriction of consumption also reaches the fats considered healthy.
Although chronic condition, once the symptoms are controlled, the patient with familial chylomicronemia is able to carry out a daily activity as the common one of the individuals. Always keep fat intake at bay without distractions. Hence, the importance of detecting it.
