Familial Chylomicronaemia Syndrome
What else is it called?
- Burger-Grutz syndrome
- Endogenous Hypertriglyceridaemia
- Familial Fat-Induced Hypertriglyceridemia
- Familial Hyperchylomicronemia
- Familial Lipoprotein Lipase Deficiency
- Familial LPL Deficiency
- Hyperlipoproteinemia Type I
- Hyperlipoproteinemia Type Ia
- Lipase D Deficiency
- LIPD Deficiency
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What causes it?
This disorder is caused by a problem in the LPL gene which is needed to make an enzyme called lipoprotein lipase. This enzyme is needed to break down triglycerides from your diet which go on to enter your bloodstream. Triglycerides are a type fat and are transported by molecules called lipoproteins which are made up of fats and protein. The largest of these are called chylomicrons. These are rich in triglycerides and appear in the blood shortly after eating fats, they are then usually cleared overnight. If not enough of the lipoprotein enzyme is produced, the fats and chylomicrons build up in the blood and tissues which causes the symptoms of the disorder.
How common is it?
This disorder is rare and affects approximately 1 to 2 people in every 1 million. It is more common in certain parts of Quebec. Males and females are affected equally.
What are the signs and symptoms?
You are born with this disorder. Signs and symptoms usually occur before the age of 10, with 25% of cases becoming apparent before age 1. The disorder may also become apparent for the first time during pregnancy. Severity varies between individuals.
The three main signs and symptoms include:
- Mild to severe abdominal pain often caused by an inflamed pancreas (pancreatitis). This occurs as acute attacks (episodes) which can become severe and potentially life-threatening if untreated.
- Enlarged liver and spleen (hepatosplenomegaly) caused by an accumulation of fatty acids.
- Small yellow fat deposits under the skin (eruptive xanthomas) in approx. 50% of cases
Upon examination the following are likely to be found:
- Milky appearance to the blood caused by chylomicrons failing to clear from the blood
- Pale pink appearance to the retina in the eye (vision unaffected)
- High levels of triglycerides in the blood
Other symptoms may include:
- Memory loss
- Mild dementia
Many of these symptoms are in direct correlation with the amount of fat in the blood. If fat levels are high these symptoms are more severe and become less severe when fat levels reduce.
If you have this condition you may be at an increased risk of developing diabetes if the treatment is not continued and the recurrent attacks of pancreatitis occur
How is it diagnosed?
This disorder is diagnosed after recognition of the key signs and symptoms. It can also be diagnosed through genetic testing.
Can it be treated?
The main treatment is a strict restriction of fat in the diet. Your consultant will advise you on how much is right for you. This can be difficult to manage due to different foods available and labelling. However, the diet is the key to managing the disorder and preventing symptoms and its success relies on your compliance with the restrictions.
The liver and spleen should reduce to normal size and the xanthomas clear after fat has been reduced.
You will need to have regular blood tests to monitor blood levels. If you experience abdominal pain, you should contact your doctor.
Alcohol must be avoided along with or oestrogen, diuretics, fish oil supplements, and medications such as isotretinoin, glucocorticoids, selective serotonin reuptake inhibitors, and beta-adrenergic blocking agents Always talk to your doctor before taking any medications or supplements.
Your doctor will help you to understand your treatment and help you to manage your diet. There are also useful resources available which offer practical help.
Do my family need to be tested?
Humans have chromosomes composed of DNA. Genes are pieces of DNA that carry the genetic instruction. Each chromosome may have several thousand genes. We inherit particular chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.
This is an inherited condition. There is nothing that could have been done to prevent it.
Everyone has a pair of genes that make the lipoprotein lipase enzyme. If you have this disorder, neither of these genes works correctly. You will inherit one non-working gene from each parent. Parents of those with this disorder are carriers of the condition. Carriers do not have the disorder because the other gene of this pair is working correctly.
When both parents are carriers, in each pregnancy the risk to the baby is as follows:
- 25% chance (1 in 4) of developing the disorder
- 50% chance (1 in 2) for the baby to be a carrier of the disorder
- 25% chance (1 in 4) for the baby to have two working genes and neither have the disorder nor be a carrier
Thank you to Action FCS for helping provide this up-to-date information.
|Action FCS wants everyone with FCS to live as full and healthy a life as possible. To do this, they raise awareness of, and educate about the patient experience of the condition. They run virtual events throughout the year and our annual FCS Awareness Day on the first Friday in November. They support patients and those close to them through our Facbook group FCS Community, and advocate for excellent care and new medicines, representing the patient voice in medicines regulatory processes.|
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