Department of Medicine, Université de Montréal, ECOGENE-21, 930 Jacques Cartier Est, Chicoutimi, G7H 7K9, Canada.
Orphanet J Rare Dis. 2023 Jun 27;18(1):167. 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.
家族性乳糜微粒血症综合征（FCS）是一种极为罕见的疾病，由脂蛋白脂肪酶（LPL）缺乏引起，与潜在致命的急性胰腺炎风险相关。已报道 FCS 患者存在血小板减少症（血小板计数 < 150,000 × 10/L），无论是否接受沃拉森瑟治疗，一种第二代 APOC3 反义寡核苷酸。乳糜微粒是餐后输送脂肪的脂蛋白，因此 FCS 具有餐后起源。尚未在 FCS 中研究餐后血小板计数（PLC）和止血功能缺陷。
评估 FCS 餐后血小板计数（PLC）波动和止血功能缺陷。
在 6 名 FCS 纯合子导致基因突变的患者（HoLPL）、6 名 LPL 功能丧失变异的杂合子患者（HeLPL）和 7 名血脂正常的对照者中，在餐后 5 小时内测量 PLC、止血功能缺陷和血液学变量。
HoLPL 餐后每小时 PLC 明显低于对照组（P < 0.009）。与其他组相比，HoLPL 组餐后 PLC 迅速下降（第一小时）（P = 0.03），且在餐后 5 小时仍低于基线（P = 0.02），而血脂正常对照组则略有增加（P = 0.02）。血小板功能不受进餐状态的影响。在 HoLPL 中，PLC 餐后波动与淋巴细胞计数呈正相关（P = 0.005），与中性粒细胞/淋巴细胞比值（NLR）呈负相关。
FCS（HoLPL）餐后 PLC 降低，与止血功能缺陷变化无关，与 NLR 相关，NLR 是急性胰腺炎严重程度的标志物。
