Case Report
Copyright ©2013 Baishideng Publishing Group Co.
World J Gastrointest Endosc. Aug 16, 2013; 5(8): 398-401
Published online Aug 16, 2013. doi: 10.4253/wjge.v5.i8.398
Table 1 Classification of Ehlers-Danlos syndrome
New classification, Villefranche (1997)Former classification Berlin (1988)MIM number1InheritanceBiochemical defects
ClassicType I130000ADCOL5A1
Type II130010COL5A2
HypermobilityType III130020ADUnknown
VascularType IV130050ADCOL3A1
KyphoscoliosisType VI225400ARLysyl hydroxylase
ArthrochalasiaVIIA, VIIB130060ADCOL1A1, COL1A2
DermatosporaxisVIIC225410ARType I collagen N-peptidase
Table 2 Vascular Ehlers-Danlos syndrome: Villefranche diagnostic criteria
Major diagnostic criteriaMinor diagnostic criteria
Arterial, digestive or uterine fragility or rupturePositive family history
Thin, translucent skinSudden death in a close relative
Extensive bruisingAcrogeria
Characteristic facial appearanceHypermobility of small joints
Tendon and muscle rupture
Talipes equinovarus (clubfoot)
Early onset varicose veins
Spontaneous pneumo or hemothorax
Table 3 Endoscopic procedures reported in Ehlers-Danlos syndrome patients
Hawk et al[15]41/FERCPNo complication
SphincterotomyNon-pulsatile bleeding (conservative management)
Kahn et al[19]45/FERCPBile duct rupture(conservative management)
Rana et al[20]33/MColonoscopyPerforation (Surgical intervention)
Baichi et al[14]51/FUpper endoscopyNo complication
Present case35/FUpper endoscopyNo complication
IleoscopyPerforation (conservative management)