エーラスダンロス症候群が疑われたが術前評価により手術可能と判断し全腹腔鏡下子宮全摘術を施行した一例

抄録

　Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders where patients have difficulty in tolerating invasive procedures. Advanced tests and genetic analyses on EDS patients have revealed that some subtypes and genetic mutations correspond to clinical subtypes and are not contraindicated for invasive therapies.

Case: We present the case of a 46-year-old para 2 woman (both vaginal delivery) with a history of coronary arterial dissection and aortic dissection (replacement surgery) and a familial history of arterial dissection. She was referred to our hospital because of severe dysmenorrhea. Pelvic examination, trans-vaginal ultrasonography, and magnetic resonance imaging revealed that she had a leiomyoma-like nodule that seemed to penetrate the uterine muscle of the left uterine fundus. We assessed the risk of uterine corpus rupture and considered the necessity and possibility of hysterectomy. We next performed genetic analysis for connective tissue disorders, and the result revealed an unreported mutation of Col3A1, which is associated with vascular EDS and aortic and arterial aneurysms, although the variant was not considered a pathological mutation according to the Polymorphism Phenotyping v2 (PolyPhen-2) score. We consulted the vascular surgeons who had performed her aortic replacement, and they confirmed that there was no problem of tissue fragility. Due to those findings, we decided to perform standard hysterectomy. Total laparoscopic hysterectomy (TLH) was performed because of its minimal invasiveness. There was no problem of tissue fragility.

Conclusion: We suspected that the woman had EDS, but a thorough preoperative evaluation with genetic analysis and previous surgical records enabled TLH to be safely performed. We recommend managing patients with rare diseases such as EDS on an individual basis.