Hereditary hemorrhagic telangiectasia involving portal venous system: A case report and review of the literature

Table 1 Publications that describe similar cases

Serial number	Publication date	Gender	Age	Clinical manifestation	Treatment	Prognosis	Ref.
1	1978	Male	63	Severe epistaxis; gastrointestinal bleeding; ileocolic AVM	NA	NA	[29]
2	2003	Male	68	Gastrointestinal bleeding; epistaxis; telangiectasia of skin; pulmonary AVM	Embolization for AVM	No recurrence after 6 mo of follow-up	[30]
3	2006	Female	73	Epistaxis; hemolytic anemia; mesenteric AVM	NA	NA	[31]
4	2007	Male	72	Epistaxis; gastric telangiectasia; superior mesenteric AVM	Treatment for ascites and varicose veins	NA	[32]
5	2016	Female	46	Epistaxis; telangiectasia of skin; AVM of splenic flexure of colon	NA	NA	[33]
6	2014	Female	68	Duodenal AVM	NA	NA	[34]

AVM: Arteriovenous malformations; NA: Not available.

Table 2 Common genetic variants in hereditary hemorrhagic telangiectasia patients

Type	HHT1	HHT2	HHT3	HHT4	HHT5	HHT + JPS
Mutated gene locus	ENG	ACVRL1	No specific gene	No specific gene	BMPq/GDF2	MADH4
Location	9q34	12q3	5q31	7q14	NA	NA
Affected protein	Endoglin protein	AKL1 protein	NA	NA	NA	SMAD4 protein
Proportion	61%	37%	NA	NA	NA	2%

JPS: Juvenile polyposis syndrome; NA: Not available; ENG: Endoglin; HHT: Hereditary hemorrhagic telangiectasia; SMAD4: Mothers against decapentaplegic homolog 4; ACVRL1: Activin receptor-like kinase 1.