Lab tests show massive accumulation of chylomicrons in the plasma and corresponding severe hypertriglyceridemia. Typically, the plasma in a fasting blood sample appears creamy (plasma lactescence). Familial LPL deficiency should be considered in anyone with severe hypertriglyceridemia and the chylomicronemia syndrome. The absence of secondary causes of severe hypertriglyceridemia (like e.g. diabetes, alcohol, estrogen-, glucocorticoid-, antidepressant- or isotretinoin-therapy, certain antihypertensive agents, and paraproteinemic disorders) increases the possibility of LPL deficiency. In this instance besides LPL also other loss-of-function mutations in genes that regulate catabolism of triglyceride-rich lipoproteins (like e.g. ApoC2, ApoA5, LMF-1, GPIHBP-1 and GPD1) should also be considered The diagnosis of familial<unk>  is finally confirmed by detection of either homozygous or compound heterozygous pathogenic gene variants in LPL with either low or absent lipoprotein lipase enzyme activity. Lipid measurements · Milky, lipemic plasma revealing severe hyperchylomicronemia; · Severely elevated fasting plasma triglycerides (>2000 mg/dL); LPL enzyme · Low or absent LPL activity in post-heparin plasma; · LPL mass level reduced or absent in post-heparin plasma; Molecular genetic testing The LPL gene is located on the short (p) arm of chromosome 8 at position 22. More than 220 mutations in the LPL gene have been found to cause familial<unk>  so far.
Lipoprotein lipase deficiency
Lecithin cholesterol acyltransferase deficiency
Apolipoprotein B deficiency
Lysosomal acid lipase deficiency
Acyl-CoA oxidase deficiency
Glycerol kinase deficiency
Acid lipase disease
2,4 Dienoyl-CoA reductase deficiency