Vascular type Ehlers-Danlos Syndrome with Intra-abdominal Hemorrhage due to Ruptured Hepatic Aneurysm

We would like to express my sincere gratitude for our work publication in this reputable journal. We are excited about the opportunity to engage with other researchers in this field. The key messages that I considered important by experiencing this rare case of early-onset vascular Ehlers-Danlos syndrome are as follows: 

1. Notice of characteristic physical findings 

Increased skin vascular transparency and hypermobility of joints are crucial clues to suspect this syndrome. Sigmoid colon perforation is extremely rare in young individuals from an epidemiological standpoint. As seen in this case, when colon perforation occurs in a young person, we should suspect a connective tissue disorder like this syndrome and proceed with genetic testing. 

2. Attention to vascular catastrophe 

In this syndrome, aneurysmal lesions tend to develop in multiple locations after surgical or endovascular treatment, also known as vascular catastrophe [1]. The arterial lesions may have been aggravated by increased collagenase hyperactivity during surgery at a young age like this case. 

3. Early medication to prevent progression 

Oral β1 blocker Celiprolol prevents aneurysm development [2]. This case had been under no medication for over 10 years since laparotomy for colon perforation. Earlier prescription may have prevented the progression of the aneurysms. We would like to dedicate the insights obtained from this valuable case to all physicians and surgeons involved in emergency medical care.

1. Horowitz MB, Purdy PD, Valentine RJ, Morrill K (2000) Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos syndrome. AJNR Am. J. Neuroradiol 5: 974–6.
2. Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, et al. (2010) Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomized, open, blinded-endpoints trial. Lancet 376: 1476–84.