Deficiency in lipoprotein lipase

[MIM 238 600]

(Familial chylomicronemia, hyperlipoproteinemia type 1, Burger-Grutz hyperlipidemia)

Incidence estimated at 1/106. Autosomal recessive transmission of a loss-of-function mutation of the LPL gene at 8p21.3 (80 % of cases),  coding  for lipoprotein lipase, or in one of the genes required for lipoprotein lipase activity: APOC2 (19q13.32), GPIHBP1 (8q24.3), APOA5 (11q23) or LMF1 (16p13.3).

Lipoprotein lipase is an enzyme synthesized in the striated muscle and adipose tissue. This extracellular enzyme attached on the vascular endothelial surface degrades circulating triglycerides embedded in very low-density lipoproteins  and in chylomicrons in  the bloodstream in free fatty acids and glycerol.


Clinical presentation:


-        repeated pancreatitis since the early months of life

-        lactescent serum; triglycerides levels are elevated during fasting ( > 100 mg / 100ml) and even more after a meal (> 10 g / 100 ml), that can cause pseudo-hyponatremia (each elevation of 1 g / 100 ml of triglycerides decreases the measured sodium level by 2 to 4 mEq/l)

-        elevation of chylomicrons (lipoproteinemia type I) or, more rarely, of chylomicrons and VLDL (lipoproteinemia type V)

-        cutaneous xanthomas

-        blood platelet count at the lower limit of normal with a postprandial decrease; platelet function is normal

-        sometimes moderate chronic hemolysis

-        splenomegaly due to the sequestration of fatty acids in splenic macrophages: risk of rupture; splenomegaly can regress if a strict fat-free diet is observed.


There is no increased risk of atheromatosis as chylomicrons are not atherogenic.

Treatment: fat-poor diet enriched with medium-chain triglycerides.

Genetic treatment: administration of volanesorsen or olezarsen (an antisense inhibitory mRNA of the hepatic C3 apopiloprotein gene) subcutaneously 1x/week; this is effective, but with an increased risk of thrombocytopenia.


Anesthetic implications: 

check blood level of pancreatic enzymes (lipases); avoid propofol TIVA because this produces an overload in triglycerides overload and a risk of pancreatitis.


References : 


Updated: July 2023