scholarly journals Tamoxifen Therapy for Recurrent Mucosal Bleeding in Hereditary Hemorrhagic Telangiectasia

2021 ◽  
Vol 10 (1) ◽  
pp. 22-24
Author(s):  
Stephanie Yung ◽  
Julie-Anne Bell ◽  
Jim Brooker
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Tamoxifen Therapy ◽  
Mucosal Bleeding

scholarly journals Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension

2017 ◽  
Vol 11 (2) ◽  
pp. 293-304
Author(s):  
Luigi F. Bertoli ◽  
Pauline L. Lee ◽  
Lauren Lallone ◽  
James C. Barton
Keyword(s):  
Portal Hypertension ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Positive Association ◽  
Alcoholic Cirrhosis ◽  
Intravenous Iron ◽  
Platelet Counts ◽  
Bevacizumab Treatment ◽  
Severe Epistaxis ◽  
Multivariable Analyses ◽  
Mucosal Bleeding

Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT). We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. We tabulated these measures weekly during weeks 1–33 (no bevacizumab); 34–57 (bevacizumab); and 58–97 (no bevacizumab): hemoglobin (Hb) levels; platelet counts; units of transfused packed erythrocytes (PRBC units); and quantities of iron infused as iron dextran to support erythropoiesis. We performed univariate and multivariable analyses. We sequenced his ENG and ACVRL1 genes. Epistaxis and melena decreased markedly during bevacizumab treatment. He reported no adverse effects due to bevacizumab. Mean weekly Hb levels were significantly higher and mean weekly PRBC units and quantities of intravenous iron were significantly lower during bevacizumab treatment. We performed a multiple regression on weekly Hb levels using these independent variables: bevacizumab treatment (dichotomous); weekly platelet counts; weekly PRBC units; and weekly quantities of intravenous iron. There was 1 positive association: (bevacizumab treatment; p = 0.0046) and 1 negative association (PRBC units; p = 0.0004). This patient had the novel ENG mutation E137K (exon 4; c.409G→A). Intravenous bevacizumab treatment 2.5 mg/kg every 2 weeks for 24 weeks was well-tolerated by a patient with HHT due to ENG E137K and was associated with higher weekly Hb levels and fewer weekly PRBC units.

Hereditary Hemorrhagic Telangiectasia and Gastrointestinal Hemorrhage

1963 ◽  
Vol 44 (1) ◽  
pp. 1-6 ◽  
Author(s):  
C. Russell Smith ◽  
Lloyd G. Bartholomew ◽  
James C. Cain
Keyword(s):  
Gastrointestinal Hemorrhage ◽  
Hereditary Hemorrhagic Telangiectasia

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

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.

A Case of Hereditary Hemorrhagic Telangiectasia Type 1 with Endoglin Gene Mutation

2010 ◽  
Vol 72 (6) ◽  
pp. 581-584
Author(s):  
Emi DEGUCHI ◽  
Shinichi IMAFUKU ◽  
Juichiro NAKAYAMA
Keyword(s):  
Gene Mutation ◽  
Hereditary Hemorrhagic Telangiectasia
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