Cerebral venous sinus thrombosis associated with protein S deficiency during pregnancy: a case report

Usui, Miyu; Ozawa, Tadashi; Kim, Younhee; Mashiko, Takafumi; Matsuzono, Kosuke; Maruyama, Keiko; Kokame, Koichi; Usui, Rie; Koide, Reiji; Fujimoto, Shigeru

doi:10.1080/01443615.2019.1606789

Cited by 4 publications

(1 citation statement)

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“…Previous case reports or series show that anemia, obesity, smoking, cesarean section, epidural and spinal anesthesia during childbirth, pregnancy-induced hypertension, ovarian stimulation drugs, infections, Hyperhomocysteinemia (HHCY), antiphospholipid antibodies (aPL), and SLE may be closely associated with PCVT [7][8][9][10][11][12]. Several articles have described hereditary thrombophilia such as Factor V Leiden mutation (FVL), proteins C (PC) and protein S (PS), antithrombin III (ATIII) deficiency in PCVT [12][13][14][15][16][17][18][19][20][21][22]. However, these existing studies have not comprehensively analyzed the risk factors or etiology of PCVT, and the research is mainly conducted in European countries, India, and other countries, while there are a few studies in China which do not mention the acquired and genetic thrombophilia of PCVT, indicating a knowledge gap in this area [23][24][25][26].…”

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confidence: 99%

The risk profiles of pregnancy-related cerebral venous thrombosis: a retrospective study in a comprehensive hospital

Wang,

Yao,

et al. 2024

BMC Neurol

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Objectives To investigate the risk factors and underlying causes of pregnancy-related cerebral venous thrombosis (PCVT). Methods A retrospective cohort of 16 patients diagnosed with CVT during pregnancy and postpartum (within six weeks after delivery) in a comprehensive hospital in China between 2009 and 2022 were carefully reviewed, focusing on demographic, clinical, and etiological characteristics, especially underlying causes. We matched 16 PCVT patients with 64 pregnant and puerperal women without PCVT to explore risk factors and clinical susceptibility to PCVT. Results PCVT occurred commonly during the first trimester (43.75%) and the puerperium (37.5%). The frequency of anemia, thrombocytosis and thrombocytopenia during pregnancy, dehydration, and pre-pregnancy anemia was significantly higher in women with PCVT than in those without PCVT (P < 0.05). Among the 16 patients, five were diagnosed with antiphospholipid syndrome and one was diagnosed with systemic lupus erythematosus. Three patients had distinct protein S deficiency and one had protein C deficiency. Whole Exome Sequencing (WES) was performed for five patients and revealed likely pathogenic mutations associated with CVT, including heterozygous PROC c.1218G > A (p. Met406Ile), heterozygous PROS1 c.301C > T (p. Arg101Cys), composite heterozygous mutation in the F8 gene (c.144-1259C > T; c.6724G > A (p. Val2242Met)) and homozygous MTHFR c.677C > T (p. Ala222Val). Conclusions The occurrence of anemia, thrombocytopenia and thrombocytosis during pregnancy, dehydration and pre-pregnancy anemia suggested a greater susceptibility to PCVT. For confirmed PCVT patients, autoimmune diseases, hereditary thrombophilia, and hematological disorders were common causes. Screening for potential etiologies should be paid more attention, as it has implications for treatment and long-term management.

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