The disease often presents in infancy with colicky pain, failure to thrive, and other symptoms and signs of the chylomicronemia syndrome. In women the use of estrogens or first pregnancy are also well known trigger factors for initial manifestation of LPLD. At all ages, the most common clinical manifestation is recurrent abdominal pain and acute pancreatitis. The pain may be epigastric, with radiation to the back, or it may be diffuse, with the appearance of an emergent acute abdomen. Other typical symptoms are eruptive xanthomas (in about 50% of patients), lipemia retinalis and hepatosplenomegaly. Complications Patients with LPLD are at high risk of acute pancreatitis, which can be life-threatening, and can lead to chronic pancreatic insufficiency and diabetes.
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