Since he was young, Josiano Severino de Santana, 51, lived with intense abdominal pain, bloating, discomfort after meals and fatigue. All of this, without a clear explanation. In 2008, he was diagnosed with type 2 diabetes, but the problems continued despite treatment.
Between 2011 and 2023, Josiano faced three serious attacks of pancreatitis. During this period, triglycerides (a type of fat present in the blood) were recorded at around 4,900 mg/dL, around 30 times above the average considered normal, which varies between 150 and 175 mg/dL.
“I had a lot of discomfort in my stomach. Everything I ate was affecting me, but I still didn’t know what it was,” Josiano tells CNN Brazil. “At the time, I was only diagnosed with acute pancreatitis.”
Until, in May 2024, he finally had the correct diagnosis for what was causing all these problems: FFS (familial chylomicronemia syndrome)one of genetic origin.
The disease is caused by mutations that prevent the body from correctly metabolizing triglycerides, affecting the action of enzymes involved in the breakdown of fats, leading to the accumulation of chylomicrons (particles rich in triglycerides) in the blood, according to Maria Cristina Izar, cardiologist and professor at Unifesp (Federal University of São Paulo).
“This excess circulating fat can generate different symptoms that leave the patient weakened and, in severe cases, lead to death. For this reason, those with the disease need to follow an extremely restricted diet in fats, generally between 15 and 20 grams per day”, says the specialist to CNN Brazil.
During his first pancreatitis attack, Josiano was hospitalized for 14 days and almost had to be intubated. In 2017, he returned to the hospital for eight days with the same condition, leaving with respiratory complications and speech difficulties. In 2023, he faced another seven-day hospitalization.
“I was taking medication properly, I was already on a diet. But even though I was taking medication, I never felt well. These medications had no effect at all”, recalls Josiano.
“Cheek test” allowed the correct diagnosis
The diagnosis of SQF was only possible thanks to an endocrinologist at the health center in the city of Josiano, Jaboatão dos Guararapes, in Pernambuco, who reviewed his entire clinical trajectory and requested a genetic test called “cheek test“, which analyzes DNA collected from the oral mucosa.
“The syndrome is an exclusively genetic disease and follows an autosomal recessive inheritance pattern. That is, the person needs to inherit two copies of the mutated gene — one from each parent — to develop the disease”, explains Izar.
The must be requested to confirm the condition when there is suspicion based on clinical and laboratory evaluation. Symptoms of FQS usually include blood with a thicker, whiter appearance, due to excess fat, changes in the vessels of the eyes, recurrent abdominal pain, eruptive xanthomas (small yellowish balls on the skin due to the accumulation of fat rich in cholesterol) and repeated attacks of pancreatitis, in addition to difficulties with memory, concentration and impact on quality of life and social life.
Josiano, for example, could no longer work due to the symptoms, as he felt a lot of fatigue and pain. “I ended up taking two painkillers to be able to work, one in the morning and one after noon. It was pain, shortness of breath and high blood pressure, which I also have”, he recalls.
Furthermore, from a clinical point of view, in healthy people, the triglyceride level is usually around 150 mg/dL. In people with SQF, the index can exceed 1,000 mg/dL, even exceeding 10,000 mg/dL, according to Izar.
Diet, medications and multidisciplinary monitoring are essential
Adequate treatment of familial chylomicronemia requires multidisciplinary monitoring, that is, from different health professionals, such as a nutritionist, endocrinologist, psychologist, gastroenterologist and hepatologist.
Furthermore, the patient needs to follow a diet, with less than 10 to 15% of daily calories coming from fat, as explained by Izar. “This includes avoiding even foods considered healthy for the general population, such as avocados, nuts and olive oil,” he says. Practicing physical activity is also part of care.
Regarding drug treatments, among the most recent options, APOC3 inhibitor therapies stand out, such as volanesorsen, which have shown satisfactory results in reducing triglycerides.
“This medication works by ‘silencing’ the APOC3 gene, which normally hinders the action of the enzyme responsible for breaking down fats in the blood (lipoprotein lipase). This way, the body is able to remove triglycerides more efficiently, reducing the risk of pancreatitis and other complications related to excess circulating fat”, he states.
According to the specialist, adequate treatment of the disease can bring a significant improvement in blood fat levels.
Currently, Josiano is monitored quarterly at HC-UFPE (Hospital das Clínicas of the Federal University of Pernambuco). Its treatment involves strict control of glucose, blood pressure and cholesterol, as well as nutritional guidance for an extremely low-fat diet.
“In this sense, I am also in the process of accessing a therapy specifically indicated for the disease that helps control blood fat”, he explains.
On this path, which took him away from his work in construction and imposed daily adjustments, Josiano reinforces the fundamental support of ABSQF (Brazilian Association of SQF). “With the association, I was able to share experiences, better understand the disease and receive support”, he says. “And, for those who are also on this journey, don’t give up, even when it seems impossible. Seek specialists, insist on exams, investigations, because understanding the cause changes everything”, he concludes.
