Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV

Table 1 Classification of Ehlers-Danlos syndrome

New classification, Villefranche (1997)	Former classification Berlin (1988)	MIM number1	Inheritance	Biochemical defects
Classic	Type I	130000	AD	COL5A1
	Type II	130010		COL5A2
Hypermobility	Type III	130020	AD	Unknown
Vascular	Type IV	130050	AD	COL3A1
Kyphoscoliosis	Type VI	225400	AR	Lysyl hydroxylase
Arthrochalasia	VIIA, VIIB	130060	AD	COL1A1, COL1A2
Dermatosporaxis	VIIC	225410	AR	Type I collagen N-peptidase
Others	V	305200	XR
	VIII	130800	AD
	X	225310	AR
	XI	147900	AD

It’s adapted from Beighton et al[6], Wenstrup et al[17] and Steinmann et al[18].

¹The MIM number is a numerical assignment for inherited diseases, genes and functional segments of DNA. AD: Autosomal dominant; AR: Autosomal recessive; XR: X-linked recessive.

Table 2 Vascular Ehlers-Danlos syndrome: Villefranche diagnostic criteria

Major diagnostic criteria	Minor diagnostic criteria
Arterial, digestive or uterine fragility or rupture	Positive family history
Thin, translucent skin	Sudden death in a close relative
Extensive bruising	Acrogeria
Characteristic facial appearance	Hypermobility of small joints
	Tendon and muscle rupture
	Talipes equinovarus (clubfoot)
	Early onset varicose veins
	Spontaneous pneumo or hemothorax

It’s adapted from Germain et al[5] and Beighton et al[6].

Table 3 Endoscopic procedures reported in Ehlers-Danlos syndrome patients

Ref.	Age/sex	Procedure	Outcome/treatment
Hawk et al[15]	41/F	ERCP	No complication
		Sphincterotomy	Non-pulsatile bleeding (conservative management)
Kahn et al[19]	45/F	ERCP	Bile duct rupture(conservative management)
Rana et al[20]	33/M	Colonoscopy	Perforation (Surgical intervention)
Baichi et al[14]	51/F	Upper endoscopy	No complication
Present case	35/F	Upper endoscopy	No complication
		Ileoscopy	Perforation (conservative management)

F: Female; M: Male; ERCP: Endoscopic retrograde cholangiopancreatiography.