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Journal of Medical Case Reports

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Open Access 01-12-2013 | Case report

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Authors: Fumihiro Kashizaki, Atsushi Hatamochi, Kazunori Kamiya, Akira Yoshizu, Hiroaki Okamoto

Published in: Journal of Medical Case Reports | Issue 1/2013

Abstract

Introduction

Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease.

Case presentation

A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36). A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation.

Conclusion

We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

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Title: Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report
Authors: Fumihiro Kashizaki
Atsushi Hatamochi
Kazunori Kamiya
Akira Yoshizu
Hiroaki Okamoto
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2013
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-7-35

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Abstract

Introduction

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

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