Dataset Information

Vascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report.

ABSTRACT:

Background

Vascular Ehlers-Danlos syndrome has a high mortality rate due to hemorrhagic complications.

Case presentation

We report a case of vascular-type Ehlers-Danlos syndrome diagnosed due to rupture of multiple celiac aneurysms. The patient was a 25-year-old Japanese man with a history of a sigmoid perforation. He was admitted to a nearby hospital because of abdominal pain. On day 9 of hospitalization, the patient experienced shock. Enhanced abdominal computed tomography revealed a hepatic aneurysm and intra-abdominal bleeding, and the patient was transferred to our hospital. Emergency abdominal angiography revealed multiple aneurysms in the celiac, common, and right hepatic arteries. The right hepatic artery was considered responsible and was embolized. The patient had characteristic physical findings of the syndrome, aiding in confirming the genetic analysis of COL3A1 gene abnormality.

Conclusion

Juvenile-onset colonic perforation and rupture of the celiac arteries are key findings in the suspicion of vascular-type Ehlers-Danlos syndrome.

SUBMITTER: Tanaka M

PROVIDER: S-EPMC11359706 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature

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Publications

Vascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report.

Tanaka Masaou M Ueda Kentaro K Yonemitsu Takafumi T Tamura Shinobu S Ikoma Akira A Sonomura Tetsuo T Inoue Shigeaki S

Acute medicine & surgery 20240101 1

<h4>Background</h4>Vascular Ehlers-Danlos syndrome has a high mortality rate due to hemorrhagic complications.<h4>Case presentation</h4>We report a case of vascular-type Ehlers-Danlos syndrome diagnosed due to rupture of multiple celiac aneurysms. The patient was a 25-year-old Japanese man with a history of a sigmoid perforation. He was admitted to a nearby hospital because of abdominal pain. On day 9 of hospitalization, the patient experienced shock. Enhanced abdominal computed tomography revea ...[more]

PMID: 39211523

Similar Datasets

Project description:The vascular type of Ehlers-Danlos syndrome (EDS), EDS type IV (Online Mendelian Inheritance in Man [MIM] #130050) is characterized by thin, translucent skin, easy bruising, and arterial, intestinal, and/or uterine fragility during pregnancy, which may lead to sudden death. It is an autosomal dominant inherited disorder caused by type III procollagen gene (COL3A1: MIM #120180) mutations. Approximately 50% of the COL3A1 mutations are inherited from an affected parent, and 50% are de novo mutations. Each child of an affected individual has a 50% chance of inheriting the mutation and developing the disorder. Pregnant women with vascular EDS are at an increased risk of uterine and arterial rupture during the peripartum period, with high maternal morbidity and mortality rates. We report the first case of an asymptomatic 35-year-old woman at a risk of complications of vascular EDS who underwent presymptomatic evaluation during pregnancy. The sequencing results of both her brother and mother had a one-base-pair deletion, resulting in Glutamate at position 730 changing to Lysine and causing a frame shift and premature termination codon at 61 amino acids from the mutation position (p. Glu730Lysfs*61) on exon 32 of COL3A1. This deletion caused frameshift, leading to a premature termination codon (TAG) at 181 nucleotides downstream in exon 35, which could not be detected by previous total RNA (ribonucleic acid) method. Thus, she was at risk of complications of vascular EDS, and diagnostic testing was employed at 8 weeks of pregnancy to minimize the risk of developing vascular EDS-related complications. The negative presymptomatic diagnostic result allowed the patient to choose normal delivery at term. Vascular EDS is a serious disorder, with high mortality, especially in high-risk women with vascular EDS during pregnancy. The presymptomatic genetic testing of vascular EDS during pregnancy for a high-risk family can help with the early establishment of preventive measures.

Dataset Information

Vascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report.

Background

Case presentation

Conclusion

Publications

Vascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report.

Similar Datasets

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