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

doi:10.4240/wjgs.v15.i10.2367

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Oct 27, 2023 (publication date) through May 10, 2024

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World Journal of Gastrointestinal Surgery

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1948-9366

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastrointest Surg. Oct 27, 2023; 15(10): 2367-2375
Published online Oct 27, 2023. doi: 10.4240/wjgs.v15.i10.2367

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.

Citation: Wu JL, Zhao ZZ, Chen J, Zhang HW, Luan Z, Li CY, Zhao YM, Jing YJ, Wang SF, Sun G. Hereditary hemorrhagic telangiectasia involving portal venous system: A case report and review of the literature. World J Gastrointest Surg 2023; 15(10): 2367-2375
URL: https://www.wjgnet.com/1948-9366/full/v15/i10/2367.htm
DOI: https://dx.doi.org/10.4240/wjgs.v15.i10.2367