대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Chief Complaint

hemoptysis (onset: one month ago)

Definitive Diagnosis

Ehlers-Danlos Syndrome, Vascular type

Past History

SAH d/t ruptured Rt. paraclinoid aneurysm
s/p coil embolization

Ischemic colitis
s/p Total colectomy/end-ileostomy

Reviewy

Faulty collagen synthesis causing hyperextensible skin, tendency to bleed (easy bruising), and hypermobile joints

Multiple types. Inheritance and severity vary.
Can be AD or AR
May be associated with joint dislocation, berry and aortic aneurysm, organ rupture

Classical type (type 1/2; joint and skin Sx): caused by a mutation in type V collagen
Hypermobility type (type 3; joint instability): M/C type
Vascular type (type 4; vascular and organ rupture): deficient type III collagen

Diagnosis finally confirmed with genetic studies

Keywords