Post-prandial analysis of fluctuations in the platelet count and platelet function in patients with the familial chylomicronemia syndrome

• Published in: Orphanet journal of rare diseases Vol. 18; no. 1; p. 167
• Main Authors: Larouche, Miriam, Brisson, Diane, Morissette, Marie-Claude, Gaudet, Daniel
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 27.06.2023; BioMed Central; BMC
• Subjects: Acute Disease; Analysis; Antisense oligonucleotides; Bioavailability; Blood; Blood lipids; Blood platelets; Care and treatment; Cell number; Cholesterol; Chylomicrons; Complications and side effects; Development and progression; Diagnosis; Familial chylomicronemia syndrome; Genetic aspects; Hematology; Hemostasis; Heterozygotes; High density lipoprotein; Homozygotes; Humans; Hyperlipoproteinemia; Hyperlipoproteinemia Type I - genetics; Leukocytes (neutrophilic); Lipids; Lipoprotein lipase; Lipoproteins; Lymphocytes; Medical research; Mutation; Natural history; Neutrophils; Oligonucleotides; Pancreatitis; Pancreatitis - genetics; Platelet Count; Platelets; Rare diseases; Risk factors; Thrombocytopenia; Triglycerides; Volanesorsen; Canada; Lipoprotein lipase; Platelets; Lymphocytes; Volanesorsen; Pancreatitis; Familial chylomicronemia syndrome
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-023-02743-0

The familial chylomicronemia syndrome (FCS) is an ultra rare disease caused by lipoprotein lipase (LPL) deficiency associated with potentially lethal acute pancreatitis risk. Thrombocytopenia (platelet count < 150,000 × 10 /L) has been reported in patients with FCS, treated or not with volanesorsen, a second generation APOC3 anti-sense oligonucleotide. Chylomicrons are the lipoproteins delivering fat after a meal and FCS thus has a post-prandial origin. Platelet count and function have not been studied post-prandially in FCS. To evaluate post-prandial fluctuations in the platelet count (PLC) and functional defects of hemostasis in FCS. PLC, functional defects in hemostasis and hematologic variables were measured up-to 5 h after a meal in 6 homozygotes for FCS causing gene variants (HoLPL), 6 heterozygotes for LPL loss-of-function variants (HeLPL) and 7 normolipidemic controls. Hourly post-prandial PLC was significantly lower in HoLPL than in controls (P < 0.009). Compared to the other groups, the PLC tended to decrease rapidly (in the first hour) post-meal in HoLPL (P = 0.03) and remained lower than baseline 5-h post-meal (P = 0.02) whereas it tended to slightly increase in normolipidemic controls (P = 0.02). Platelet function was not affected by the prandial status. In HoLPL, post-prandial fluctuations in the PLC positively correlated with the lymphocyte count (P = 0.005) and negatively with neutrophil/lymphocyte ratio (NLR). The PLC decreases post-prandially in FCS (HoLPL), is not associated with changes in functional defects of hemostasis and correlates with the NLR, a marker of acute pancreatitis severity.