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Fat in Blood 30 Times Above the Limit Reveals Rare Genetic Disease. Learn How SQF Affects Metabolism and Requires Restricted Diet.
For over a decade, the Pernambuco native Josiano Severino de Santana, 51, endured intense abdominal pain, fatigue, and unexplained pancreatitis attacks. Only in May 2024, after numerous tests and hospitalizations, did he receive the correct diagnosis: familial chylomicronemia syndrome (SQF) — a rare genetic disease that causes excessive buildup of fat in the blood and dangerously elevates triglycerides, potentially leading to serious complications and even death.
Symptoms and Trajectory to Diagnosis
Since young, Josiano faced discomfort after meals and constant swelling. In 2008, he was diagnosed with type 2 diabetes, but the treatment did not resolve his symptoms.
Between 2011 and 2023, he experienced three severe pancreatitis attacks, one of which required a 14-day hospitalization.
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During this time, his triglyceride levels reached 4,900 mg/dL, about 30 times above the considered normal limit — which ranges from 150 to 175 mg/dL.
“I had a lot of stomach discomfort. Everything I ate affected me, but I didn’t know what it was,” recalls Josiano.
The cause was only discovered after an endocrinologist from the public network in Jaboatão dos Guararapes (PE) requested the genetic test known as the ‘cheek swab test’, which identifies genetic mutations in the oral mucosa.
How Familial Chylomicronemia Syndrome Affects the Body
SQF occurs due to mutations that prevent the body from properly metabolizing triglycerides, hindering the action of enzymes that break down fats.
The result is the buildup of chylomicrons — fat-rich particles — in the bloodstream.
According to Maria Cristina Izar, a cardiologist and professor at Unifesp, “this excess of circulating fat can cause debilitating symptoms and, in severe cases, lead to death. Therefore, patients need to follow an extremely restricted fat diet, usually between 15 and 20 grams per day.”
Common signs include whitish-looking blood, eruptive xanthomas (small yellowish bumps on the skin), recurrent abdominal pain, and pancreatitis attacks.
The condition can also impair memory, concentration, and quality of life.
Treatment Involves Rigid Diet and Multidisciplinary Support
The treatment for familial chylomicronemia syndrome requires a continuous care routine.
Medical guidance includes follow-up with a nutritionist, endocrinologist, psychologist, gastroenterologist, and hepatologist.
Diet must be extremely controlled, with less than 10 to 15% of daily calories coming from fat.
This means eliminating even foods considered healthy, such as nuts, avocado, and olive oil.
“These restrictions are essential to avoid new pancreatitis attacks and control blood fat levels,” emphasizes Izar.
Among the most modern therapies is the use of APOC3 inhibitors, such as the drug volanesorsen, which reduces triglycerides by “silencing” the gene that hinders the action of the lipoprotein lipase enzyme — responsible for breaking down fats.
This approach has shown promising results in reducing the risk of new complications.
Life After Diagnosis and Support from Patient Association
Today, Josiano is monitored by the Hospital das Clínicas da UFPE, where he regularly checks his glucose, cholesterol, and blood pressure levels.
The treatment, in addition to diet, includes seeking new therapies capable of helping stabilize fat in the blood levels.
“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.
Throughout his journey, the support from the Brazilian Association of SQF (ABSQF) has been fundamental. “With the association, I was able to share experiences, better understand the disease, and receive support,” he reports.
“And for those who are also on this journey, don’t give up, even when it seems impossible. Seek specialists, insist on tests, because understanding the cause changes everything.”
Awareness and Early Diagnosis Save Lives
Cases like Josiano’s highlight the importance of early diagnosis of rare genetic diseases, such as familial chylomicronemia syndrome.
The condition can profoundly affect quality of life and cause fatal complications if not treated properly.
With continuous medical follow-up and attention to triglyceride levels, it is possible to reduce the impact of fat in the blood and avoid pancreatitis attacks.
The earlier SQF is identified, the greater the chances for a balanced and well-being life.
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