Lipoprotein Lipase Deficiency is an ultra-rare condition that affects 1 to 2 in a million of the population.
People with the condition have difficulty properly digesting certain fats because they lack or have limited amounts of the enzyme lipoprotein lipase. This results in a massive accumulation of fatty droplets called chylomicrons in the circulation. The presence of chylomicrons after fasting for 12-14 hours is associated with high levels of triglycerides. Triglycerides are the biomarker for the condition, meaning that high triglycerides in the blood indicate there is a problem with fat metabolism and can alert professionals to LPLD. Triglycerides are measured in a simple fasting blood test.
If too much fat is eaten it does not get cleared from the body and instead travels round in the blood creating its creamy appearance which is typical of the condition.The photo shows 1ml of blood from a young boy with LPLD. His triglyceride levels are 116.7 mmol/L. The creamy white appearance of the blood is the fat that his body has not been able to remove. The normal range of triglycerides is below 2 mmol/L.
LPLD is a recessive genetic disorder meaning that the patient has to inherit one faulty gene from both of his or her parents. The parents could have LPLD themselves or be ‘carriers’. Carriers have one faulty gene and one functional gene and mostly appear unaffected. However, there is increasing evidence that can be effects in later life for some carriers.
LPLD affects men and women equally (although its impact is arguably greater on women) and there seems to be no ethnic bias, however there are a greater proportion of patients in Quebec, Canada due to the ‘founder effect’. The founder effect is where early settlers to the area carried the faulty gene and due to marriage within the community increased the presence of the faulty gene.
In America the condition is in the process of being reclassified as one of a group of chylomicronemia conditions and becoming known as Familial Chylomicronemia Syndrome or FCS. It is anticipated that in time this name will be used more widely in the UK.
Below is a slide presented by Daniel Gaudet from Montreal at the European Athersclerosis Society Congress in Prague 2017. The presentation was a report on the APPROACH trial of Volanesorsen (see here) as part of a ‘Recent Clinical Trials and Hot Topics’ session
Thrombocytosis is where the body produces too many platelets. Thrombocytopenia is where the body doesn’t produce enough platelets. Hyperviscosity in this context means thick and sticky blood. GI disturbances are gastro-intestinal (ie stomach pains) and hepatosplenomegaly is a swollen liver or spleen.
The incidence of both thrombocytosis and thrombocytopenia seems to demonstrate the many varieties of symptoms shown by people with this condition.
Download our leaflet (below). If you would like copies sent to you – useful to distribute to those who need help in understanding the condition – or if you are a medical professional, then please give us the address to send them to and how many you require. Please send me some leaflets.