Familial Chylomicronemia Syndrome (FCS) is a rare, recessive genetic disorder caused by mutations in Lipoprotein Lipase (LPL) or genes required for LPL functionality. FCS is characterized by hyperchylomicronemia, recurrent abdominal pain, hepatosplenomegaly and recurrent episodes… READ MORE »
Dirk Blom, Andres Digenio, Seth Baum, Linda Hemphill, et al (June 2017)

FCS is a rare autosomal recessive disorder due mainly to loss of function mutations of lipoprotein lipase. This results in severe elevation of triglycerides (TG) and massive accumulation of chylomicrons in plasma, often leading to pancreatitis. READ MORE »
Lori Alexander, Wahida Karmally, Kathy Rhodes, et al (June 2017)

Familial Chylomicronemia Syndrome (FCS) is a rare, inherited lipid disorder characterized by severely high levels of triglycerides (TGs) and chylomicrons in the plasma. The impact of FCS includes acute physical manifestations… READ MORE »
Alan Brown, Joyce Ross, Alan Gilstrap, et al (June 2017)

Sitosterolemia is a rare, autosomal, recessively inherited sterol storage disease caused by homozygous or compound heterozygous gene mutations of adenosine triphosphate-binding cassette (ABC) genes G5 or G8, in which markedly increased tissue and plasma plant sterol concentrations. The condition can lead… READ MORE »
Casey Elkins (2016)

When treating our lipid patients, it is important to always consider unusual causes of dyslipidemia in our differential diagnosis. Although rare, lysosomal acid lipase deficiency (LAL-D) is often misdiagnosed as an autosomal dominant lipid disorder and/or fatty liver disease. READ MORE »
Debra Friedrich (2016)

Some inherited lipid disorders can be recognized by the deposition of cholesterol and other lipids in lesions on the body termed xanthomas. Lipid deposition can occur in cutaneous and subcutaneous structures, including tendons, with the pattern of deposition characteristic of the underlying genetic disorder. READ MORE »
Andrea Debarber, P. Barton Duell (Fall 2015)

Mipomersen and lomitapide are specialty medications FDA-approved for the treatment of patients with homozygous familial hypercholesterolemia. Mipomersen is an antisense oligonucleotide that decreases the translation of apolipoprotein B in the liver and reduces concentrations of very-low-density lipoprotein cholesterol (VLDL-C), low-density lipoprotein cholesterol (LDL-C), non-high-density… READ MORE »
P. Barton Duell (Fall 2015)