He Familial Chylomicronemia Syndrome (FQS or FCS for its acronym in English Familial Chylomicronemia Syndrome) alters the ability to metabolize triglycerides that travel in lipoproteins. This causes extreme elevation of plasma triglycerides (TG) and associated complications, the main one being pancreatitis.
Patients with FCS show broad-spectrum symptoms: headache, memory loss, depression, recurrent abdominal pain, red patches on the skin, and joint pain.
Information is important, and today there is a website that includes a diagnostic tool — which, when suspected, provides the result of how likely an FCS patient turns out to be: https://scorefcs.com/
He score by Moulin for the diagnosis of Familial Chylomicronemia Syndrome It is a scale that consists of adding the points corresponding to each criterion met by the patient. When the score is greater than 10, it is considered more certain for the diagnosis of FCS.
In that sense, through different investigations, results are achieved to advance treatments. Thus, this year the score was validated in an English study with 75 patients with confirmed genetics; there the score has a diagnostic capacity of 88%.
A marker of FCS is the frankly decreased activity of the lipoprotein lipase (LPL) enzyme, and a recent Canadian study demonstrated the correlation with LPL reduced by 74% with the Moulin score.
This score is the first step, when it is elevated, to then perform confirmatory genetic analysis. To this information are added three clinical data that have been shown to be associated with FCS syndrome:
- non-European ancestry,
- the presence of pancreatitis
- low body index.
These items help guide the diagnosis.
Juan Patricio Nogueira (MN 97545), doctor specializing in endocrinology and nutrition and associate researcher at CONICET and President of FASEN (Argentine Federation of Endocrinology Societies) refers to this point.“Because the symptoms are very varied, the patient usually goes through 5 specialists before reaching the diagnosis. This lack of early detection causes the patient to lose between 2 to 3 years until obtaining the correct diagnosis. The diagnostic confirmation is carried out through a score described by the French group of Philippe Moulin in 2018, this score uses clinical and biochemical parameters, and at the end of the score if a score greater than 10 is obtained, we arrive at the diagnosis,” explained the specialist.
Nogueira highlights that “the level of fat in the blood causes serious difficulties for patients in carrying out their daily lives beyond the specific symptoms, which is why it is important to raise awareness, make this disease known and improve their quality of life.”
The Argentine Federation of Endocrinology Societies (FASEN) promotes the use of a diagnostic tool that provides the result of the probability of presenting the disease in a patient with suspected FCS. If you have any questions, you can make inquiries to [email protected]
FASEN is the entity that brings together endocrinology societies from all over Argentina. Its main objective is to achieve rapprochement and exchange of knowledge between its component subsidiaries and organizations around the world so that specialist doctors and patients have the latest news and updated information regarding this disease.
The diagnosis is clinical, biochemical and genetic, because FCS is characterized by a very significant elevation of triglycerides (greater than 885 mg/dl), this increase causes the blood to change from its red color to a milky-white color. increasing its viscosity, so that it circulates more slowly, causing less oxygen to reach vital organs such as the brain, digestive tract, skin and joints.
What are the symptoms?
Most of the fats existing in nature are in the form of triglycerides. All the fat consumed by food is absorbed in the intestine. It then enters chylomicrons, which are lipoproteins that serve to transport fats that have been ingested through the blood.
In a healthy individual, these fats (triglycerides) transported by chylomicrons are destroyed and “digested” by the enzyme lipoprotein lipase, being quickly absorbed by the body’s tissues and subsequently used in the formation or accumulation of energy for other functions of the cells. cells. However, in those who suffer from FCS, fat metabolization does not occur efficiently.
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Why is it important to look for risk factors in first-degree relatives?
Although many first-degree relatives do not clinically present the disease, because for it to be expressed we must have the maternal and paternal allele mutated, many times the father or mother has a single allele and therefore does not manifest the disease, only the predisposition to have it, nothing more. Among the risk factors that favor the appearance of symptoms, the most important is being overweight and diabetes.
Nogueira details that “among the available treatments, food restriction stands out with the intake of 1,200 calories per day and the reduction of fat consumption to less than 20 grams per day, although they are effective, they are unsustainable over time. Treatment with classic lipid-lowering agents such as statins, omega-3s and fibrates do not work in patients with FCS. Currently we have therapies aimed at lowering TGs and reducing episodes of pancreatitis, which would guarantee an objective improvement in quality of life,” the doctor specifies.
The information for this publication was provided by the doctor Juan Nogueira MN97545 researcher at CONICET, President of FASEN (Argentine Federation of Endocrinology Societies), former president of SAL (Argentine Lipid Society).
World Familial Chylomicronemia Syndrome (FCS) Day is commemorated this Friday, November 1, 2024, to disseminate information about this condition and shorten diagnosis times that allow adequate treatment to be reached sooner.
Source: Ambito
