Current Diagnosis and Management of Primary Chylomicronemia

J Atheroscler Thromb. 2021 May 13. doi: 10.5551/jat.RV17054. Online ahead of print.ABSTRACTPrimary chylomicronemia (PCM) is a rare and intractable disease characterized by marked accumulation of chylomicrons in plasma. The levels of plasma triglycerides (TGs) typically range from 1,000 - 15,000 mg/dL or higher.PCM is caused by defects in the lipoprotein lipase (LPL) pathway due to genetic mutations, autoantibodies, or unidentified causes. The monogenic type is typically inherited as an autosomal recessive trait with loss-of-function mutations in LPL pathway genes (LPL, LMF1, GPIHBP1, APOC2, and APOA5). Secondary/environmental factors (diabetes, alcohol intake, pregnancy, etc.) often exacerbate hypertriglyceridemia (HTG).The signs, symptoms, and complications of chylomicronemia include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, and acute pancreatitis with onset as early as in infancy. Acute pancreatitis can be fatal and recurrent episodes of abdominal pain may lead to dietary fat intolerance and failure to thrive.The main goal of treatment is to prevent acute pancreatitis by reducing plasma TG levels to at least less than 500-1,000 mg/dL. However, current TG-lowering medications are generally ineffective for PCM. The only other treatment options are modulation of secondary/environmental factors. Most patients need strict dietary fat restriction, which is often difficult to maintain and likely affects their quality of life.Timely diagnosis is critical for the be...

Source: Journal of Atherosclerosis and Thrombosis - May 13, 2021 Category: Cardiology Authors: Hiroaki Okazaki Takanari Gotoda Masatsune Ogura Shun Ishibashi Kyoko Inagaki Hiroyuki Daida Toshio Hayashi Mika Hori Daisaku Masuda Kota Matsuki Shinji Yokoyama Mariko Harada-Shiba Committee on Primary Dyslipidemia under the Research Program on Rare and I Source Type: research