Superior mesenteric arteriovenous fistula as a rare manifestation of Cowden syndrome: A case report and review of literature

Table 1 Summary of clinical characteristics of patients with Cowden syndrome associated with gastrointestinal and hepatic vascular malformations, mean ± SD

Variable category	Specific item	By patients, n = 14	By lesion, n = 23	Percentage
Demographics	Sex-male	7	NA	50.0
	Sex-female	7	NA	50.0
	Age at diagnosis in years	48.1 ± 18.0	NA	NA
	Age at diagnosis in years, median	Stillbirth-65	NA	NA
Genetics	PTEN mutation-positive	11	NA	78.6
	PTEN mutation-negative/not tested	3	NA	21.4
Lesion type	Hemangioma	NA	3	13.0
	AVM	NA	8	34.8
	VM	NA	5	21.7
	Varices	NA	1	4.3
	Vein dilatation	NA	1	4.3
	Others	NA	2	8.7
Lesion location	Esophagus	NA	2	8.7
	Jejunum/ileum (small intestine)	NA	10	43.5
	Colorectum	NA	1	4.3
	Liver	NA	6	26.1
	Others	NA	2	8.7
Extent of involvement	Single lesion	NA	7	30.4
	Multiple lesions: ≥ 2 sites	NA	13	56.5
Clinical presentation	Asymptomatic	1	NA	7.1
	Chronic hemorrhage	5	NA	35.7
	Acute hemorrhage	2	NA	14.3
	Abdominal pain/obstruction	2	NA	14.3
	Others	5	NA	35.7
Treatment	Conservative management	2	NA	14.3
	Endoscopic therapy	1	NA	7.1
	Interventional radiology (embolization)	3	NA	21.4
	Surgery	3	NA	21.4
Follow-up and outcome	Improved/stable	6	NA	42.9
	Death	2	NA	14.3

AVM: Arteriovenous malformation; NA: Not applicable; VM: Venous malformation.