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PMID: 42648567 已发表 · aheadofprint 英语

Spontaneous splenic rupture and uterine serosal bleeding at 26 Weeks in COL3A1-related vascular Ehlers-Danlos syndrome.

European journal of medical genetics ·第 83 卷 ·2026-08-26

Liu Z, Fang X, Wang A, Xu P, Yin Y, Li R, Huang C, Duan L, Qi H

摘要

Vascular Ehlers-Danlos syndrome (vEDS) is a rare COL3A1-related disorder that predisposes pregnant patients to arterial and visceral rupture. We report a 35-year-old primigravida at 26 weeks who presented with abdominal pain, hemorrhagic shock, and a rapid hemoglobin decrease. CT showed splenic laceration with hemoperitoneum. Emergency laparoscopy was converted to laparotomy because of approximately 2,000 mL of hemoperitoneum and limited access. A 3 cm × 2 cm splenic laceration, friable perisplenic tissues, and diffuse uterine serosal petechiae and oozing without gross rupture were identified. Cesarean delivery was performed because of concern for impending uterine rupture and to facilitate hemorrhage control, followed by splenectomy. The patient survived; the neonate did not. Splenic histopathology showed hemorrhage without malignant or infectious infiltration. Targeted sequencing identified a heterozygous COL3A1 (NM_000090.4):c.1862G > A, p.(Gly621Glu) variant, supporting vEDS. In pregnant patients with unexplained visceral rupture or diffuse tissue bleeding, vEDS should be considered promptly. Early genetic diagnosis and rapid multidisciplinary surgical decision-making may be critical for maternal survival, followed by vascular surveillance, asplenia management, and individualized reproductive counseling.

关键词
COL3A1 Case report Pregnancy Spontaneous splenic rupture Vascular Ehlers-Danlos syndrome
文献信息
期刊
European journal of medical genetics
期刊简称
Eur J Med Genet
ISSN
1878-0849
发表日期
2026-08-26
语言
英语
国家/地区
Netherlands
NLM ID
101247089
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