Rare Disease Day 2018 – Familial Lipoprotein Lipase Dificiency (LPLD)

Posted on the 9th March 2018

Many of us wish we ate less fat, but imagine if you had to do this every day?

To mark Rare Disease Day Core, in collaboration with the LPLD Alliance, wants to raise awareness of an inherited condition known as Familial Lipoprotein Lipase Deficiency (LPLD), also known as Familial Chylomicronaemia Syndrome (FCS).  People with LPLD/FCS are unable to digest the fat that our gut absorbs from the food we eat and as there is no treatment currently available, have to limit their intake of fat to as little as 10g per day, or risk severe abdominal pain and/or pancreatitis. Recurrent attacks of pancreatitis, if left untreated can develop into chronic pancreatitis.

As the pancreas helps digest fats and other nutrients in our food, a damaged pancreas will impede that digestion, leading to pain, nausea, malabsorption of food, and excess fats in the stools (steatorrhea), all experienced by people with the condition.  They are also more at risk of developing type 2 diabetes. Excess blood glucose is turned to fat, so diabetes adds an increased burden where  the individual has to consider not only what is eaten, but also when it is eaten.

The liver and spleen can become painfully enlarged and a type of skin lesion known as eruptive xanthmomas can also develop – these are clusters of ‘fat spots’ that appear as reddish-yellow bumps and are sometimes found in the buttocks, knees or arms. These spots appear when people with LPLD/FCS increase their fat intake and disappear when they eat less fat again. Those affected also complain of less specific symptoms, such as fatigue, memory loss, ‘brain fog’, difficulty breathing and joint pain.  Pregnancy can be difficult as blood levels of some fats raise naturally during the third trimester.

LPLD is caused by a faulty gene that stops the production of particular molecule – an enzyme called lipoprotein lipase. Some people affected are able to produce low levels of the enzyme, but might still develop symptoms due to overall reduced lipoprotein lipase activity.

Lipoprotein lipase is responsible for breaking down a type of fat known as triglycerides. Triglycerides are absorbed from the gut into the bloodstream and are distributed to the rest of the body, where they can be burned as a source of energy or stored as body fat. The lipoprotein lipase enzyme is necessary for organs such as the heart, muscles, and adipose tissue (body fat) to use triglycerides, so when the enzyme is absent, the fats remain in the blood. A blood test of people with LPLD will show the blood clouded with a milky white colour, caused by the accumulation of triglycerides in the blood.

Advances in the understanding of our genetic make-up have led to the identification of a number of gene faults that can hinder the processing of triglycerides (and it is anticipated that more will be found in the future). These different genetic diseases are collectively known as Familial Chylomicronaemia Syndrome and they all present with the same clinical symptoms. These symptoms reflect the underlying metabolic process whereby the triglycerides (absorbed from a meal in large molecules known as chylomicrons) stay in the blood stream of the affected individual.

There are a number of new treatment options on the horizon, at different stages of development and the LPLD Alliance has information on their website about some of these new medications.

Existing medications that reduce fat levels in the blood, such as statins or fibrates, can also be used though they often have a limited effect in people with LPLD/FCS. This means that those affected need to be extremely careful with their diet, which can be severely restricted.

To help us raise awareness of LPLD/FCS we are inviting supporters and their friends and families to take on the ‘FCS 10g fat Challenge’ on 28th February 2018, for Rare Disease Day.

Download the LPLD Alliance challenge poster and share it with friends and colleagues.

Learn more about LPLD and what support is available in the UK for people affected and their families:


Learn more about the pancreas and pancreatitis




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