Evolution of Intrahepatic Shunts in a Patient With Hereditary Hemorrhagic Telangiectasia

2018 ◽  
Vol 169 (7) ◽  
pp. 508 ◽  
Author(s):  
Leila Haghighat ◽  
Eric J. Brandt ◽  
Deborah D. Proctor ◽  
Guadalupe Garcia-Tsao ◽  
Jeffrey Pollak ◽  
...  
2018 ◽  
Vol 71 (11) ◽  
pp. A2393 ◽  
Author(s):  
Eric Brandt ◽  
Leila Haghighat ◽  
Guadalupe Garcia-Tsao ◽  
Katharine Henderson ◽  
Jeffrey Pollak ◽  
...  

2001 ◽  
Vol 125 (9) ◽  
pp. 1219-1223
Author(s):  
Motoji Sawabe ◽  
Tomio Arai ◽  
Yukiyoshi Esaki ◽  
Masanobu Tsuru ◽  
Toshio Fukazawa ◽  
...  

Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic fibrovascular dysplasia. Although hepatic vascular shunts are often observed in HHT, the responsible pathological mechanism is unknown. This issue was addressed by performing a 3-dimensional reconstruction study of the hepatic microvasculature of an HHT-involved liver in a 79-year-old woman. Clinical observation revealed high-output congestive heart failure and hepatic encephalopathy due to arteriovenous and portovenous shunts, respectively. Angiography revealed tortuous dilation of hepatic arterial branches and intrahepatic arteriovenous shunts. The 3-dimensional analysis of the autopsy liver revealed focal sinusoidal ectasia, arteriovenous shunts through abnormal direct communications between arterioles and ectatic sinusoids, and portovenous shunts due to frequent and large communications between portal veins and ectatic sinusoids. Type 1 HHT was suggested by the lack of endoglin immunoreactivity in the liver. The 3-dimensional reconstruction study of hepatic microvasculature was successful in identifying the pathological changes responsible for the intrahepatic shunts in HHT.


1963 ◽  
Vol 44 (1) ◽  
pp. 1-6 ◽  
Author(s):  
C. Russell Smith ◽  
Lloyd G. Bartholomew ◽  
James C. Cain

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.


2010 ◽  
Vol 72 (6) ◽  
pp. 581-584
Author(s):  
Emi DEGUCHI ◽  
Shinichi IMAFUKU ◽  
Juichiro NAKAYAMA

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