FAMILIAL CHYLOMICRONEMIA SYNDROME

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Frequent questions

  • WHAT IS FAMILIAL CHILOMICRONEMIA SYNDROME?

 

It is a rare genetic disease in which the body cannot metabolize the triglycerides that are transported in the lipoproteins, which generates high levels of triglycerides in the blood.

People with this syndrome can eat only 10 to 20 grams of fat per day, not more.

  • WHAT ARE YOUR MAIN SYMPTOMS?

     .

  • Recurring abdominal pain

  • pancreatitis

  • Memory loss or confusion

  • headaches

  • skin lesions 

  • clinical blood tests with  triglycerides greater than 880 mg/dl .
  • A distinctive sign is that l blood seems greasy or "milky" after a blood draw, which is due to high levels of triglycerides in the blood.  

  • HOW MANY PEOPLE DOES IT AFFECT?

On average it affects 1 person in 1 million.  

  • ARE THERE CASES IN ARGENTINA?

During the last year, people suffering from this disease were diagnosed.

It is believed that there are people in the country who have not yet been diagnosed.

  • IS THERE A CURE?

There is still no cure for the disease.

However, medical treatment and/or a healthy lifestyle focused on a low-fat, alcohol-free diet and physical activity allows patients to live full lives.

  • WHAT FUNCTIONS DOES IT AFFECT?

It affects functions of the nervous system, digestive system and dermal level.

  • HOW IS IT DIAGNOSED?

Familial Chylomicronemia Syndrome can be easily confused and misdiagnosed as a secondary cause of hypertrigylceridemia.

Patients with this disease reported visiting an average of 5 doctors previously, and 67% were misdiagnosed before receiving an accurate diagnosis.

Although it is a disease with which one is born, the symptoms can manifest at any age, mainly in adolescence.

Being a rare disease, it may be unknown
also by the medical community.

Genetic testing is essential.

  • HOW DO PEOPLE WITH THIS DISEASE LIVE WHEN UNDIAGNOSED?

Many people with undiagnosed disease live in isolation, experience job difficulties, and may fall into depression. To these social realities is added the physical pain of the symptoms.

  • HOW TO HELP PEOPLE SUFFERING FROM FAMILIAL CHYLOMICRONEMIA SYNDROME?

Patients need to reach the diagnosis to understand and understand that it is a condition that prevents them from metabolizing fats and thus be able to establish a lifestyle that allows them to live a full life.
Diagnosis is the beginning of treatment and is a relief to patients and those around them. Friends and family play a fundamental role at the time of accompaniment and in the search for a diagnosis.
A diagnosis of Familial Chylomicronemia Syndrome requires receiving essential disease education and support from the environment as part of a long-term disease management strategy.
If you know someone who has these symptoms: recurrent abdominal pain, pancreatitis, memory loss or confusion, headache and skin lesions, tell them about this disease and accompany them in the search for a diagnosis.
If you think you have this syndrome or know someone who may suffer from it, you can complete the form on the home page and if we consider that you meet the criteria, we will contact you by email.
 

  • HOW TO ACCOMPANY THOSE WHO SUFFER FROM FAMILIAL CHILOMICRONEMIA SYNDROME?

People with this condition must lead a healthy lifestyle to avoid symptoms, and it is not easy to restrict a diet to less than 20 grams of fat daily.

It is vital that the companions participate in the lifestyle, celebrate it, can share and help them.
The accompaniment and support are also essential to cope with the symptoms, as well as containment and understanding, especially if the diagnosis has not yet been reached.

  • RECOMMENDATIONS FOR PATIENTS WITH FAMILIAL CHYLOMICRONEMIA SYNDROME

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1. Limit fat intake to 15-20g per day (10%-15% of total daily energy intake)
2. Supplementation of essential fatty acids : alpha-linolenic acid and linoleic acid
3. Eat foods with complex carbohydrates and limit the intake of simple and refined carbohydrates
4. C ontrol and supplement if necessary with fat-soluble vitamins (A, D, E and K), minerals and oils with
  medium chain triglycerides. 
5. Adjust calories to control weight .

 

Recommended foods include vegetables, grains, legumes, lean protein foods, limited amounts of fruit, and fat-free dairy products without added sugars.

Avoid consuming alcohol and products with a high sugar content.

Answer the following form by clicking on the image .

If we consider that you meet the criteria for suspected familial chylomicronemia, we will contact you by email. 

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