Is oestrogen therapy justified in the treatment of hereditary haemorrhagic telangiectasia: a biochemical evaluation

Pau, H.; Carney, A. Simon; Walker, Ruth; Murty, G. E.

doi:10.1046/j.1365-2273.2000.00415.x

Cited by 21 publications

(7 citation statements)

References 40 publications

(42 reference statements)

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“…All six control specimens were negative for both estrogen receptors and progesterone receptors. In a more recent study that conflicted with these results, Pau et al 31 found progesterone receptors in six of eight control specimens. Two of these progesterone receptor–positive control specimens also contained estrogen receptor subtype β.…”

Section: Discussionmentioning

confidence: 87%

Hormonal and Antihormonal Therapy for Epistaxis in Hereditary Hemorrhagic Telangiectasia

Jameson

Cave

2004

The Laryngoscope

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Systemic estrogen-progesterone at doses used for oral contraception may eliminate bleeding in symptomatic HHT and is a reasonable initial option in fertile women. There is no information on possible effects of lower-dose estrogen-progesterone used in postmenopausal women for hormone replacement therapy. Tamoxifen has dramatically eliminated HHT-related bleeding in two cases. It is well tolerated in postmenopausal women and should be considered for randomized clinical trials.

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Section: Discussionmentioning

confidence: 87%

Hormonal and Antihormonal Therapy for Epistaxis in Hereditary Hemorrhagic Telangiectasia

Jameson

Cave

2004

The Laryngoscope

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“…The benefit of estrogenic therapy in HHT might suggest that a hormonal component could influence angiogenesis. Different studies have performed immunohistochemistry analyses of oestrogen and progesterone receptors expression among HHT patients with other vascular malformations [43][44][45]. These studies resulted in controversial results, and do not support a critical role of hormonal receptors in mucosa telangiectasia from HHT patients.…”

Section: Discussionmentioning

confidence: 99%

Gender differences in hereditary hemorrhagic telangiectasia severity

Mora-Luján

Iriarte

Alba

et al. 2020

Orphanet J Rare Dis

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Background: Gender differences in organ involvement and clinical severity have been poorly described in hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to describe differences in the severity of HHT manifestations according to gender. Methods: Severity was measured according to Epistaxis Severity Score (ESS), Simple Clinical Scoring Index for hepatic involvement, a general HHT-score, needing for invasive treatment (pulmonary or brain arteriovenous malformations-AVMs-embolization, liver transplantation or Young's surgery) or the presence of adverse outcomes (severe anemia, emergency department-ED-or hospital admissions and mortality). Results: One hundred forty-two (58.7%) women and 100 (41.3%) men were included with a mean age of 48.9 ± 16.6 and 49 ± 16.5 years, respectively. Women presented hepatic manifestations (7.1% vs 0%) and hepatic involvement (59.8% vs 47%), hepatic AVMs (28.2% vs 13%) and bile duct dilatation (4.9% vs 0%) at abdominal CT, and pulmonary AVMs at thoracic CT (35.2% vs 23%) more often than men. The Simple Clinical Scoring Index was higher in women (3.38 ± 1.2 vs 2.03 ± 1.2), and more men were considered at low risk of harboring clinically significant liver disease than women (61% vs 25.3%). These differences were mantained when considering HHT1 and HHT2 patients separetely. Duodenal telangiectasia were more frequent in men than women (21% vs 9.8%). Invasive treatments were more frequently needed in women (28.2% vs 16%) but men needed attention at the ED more often than women (48% vs 28.2%), with no differences in ESS, HHT-score, anemia hospital admissions or mortality. Conclusions: HHT women showed more severe hepatic involvement than men, also among HHT1 and HHT2 patients. Women had higher prevalence of pulmonary AVMs and needed invasive procedures more frequently, while men needed attention at the ED more often. These data might help physicians to individualize HHT patients follow-up.

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“…The higher prevalence of hepatic involvement in females, which is well known and observed herein, suggests a role for hormonal factors or other sex-determined genetic factors. However, it is of note that previous studies, based on immunochemistry analyses of oestrogen and progesterone receptors expression in patients with HHT has brought controversial results and do not support a role for hormonal receptors, at least in the mucosa from nasal telangiectases [ 27 , 28 ].…”

Section: Discussionmentioning

confidence: 99%

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Giraud¹,

Bardel²,

Dupuis‐Girod³

et al. 2020

Orphanet J Rare Dis

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Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TGF-β/BMP9 signaling pathway. Common visceral complications of HHT are caused by pulmonary, cerebral, or hepatic arteriovenous malformations (HAVMs). There is large intrafamilial variability in the severity of visceral involvement, suggesting a role for modifier genes. The objective of the present study was to investigate the potential role of ENG, ACVRL1, and of other candidate genes belonging to the same biological pathway in the development of HAVMs. Methods We selected 354 patients from the French HHT patient database who had one disease causing variant in either ENG or ACVRL1 and who underwent hepatic exploration. We first compared the distribution of the different types of variants with the occurrence of HAVMs. Then, we genotyped 51 Tag-SNPs from the Hap Map database located in 8 genes that encode proteins belonging to the TGF-β/BMP9 pathway (ACVRL1, ENG, GDF2, MADH4, SMAD1, SMAD5, TGFB1, TGFBR1), as well as in two additional candidate genes (PTPN14 and ADAM17). We addressed the question of a possible genetic association with the occurrence of HAVMs. Results The proportion of patients with germline ACVRL1 variants and the proportion of women were significantly higher in HHT patients with HAVMs. In the HHT2 group, HAVMs were more frequent in patients with truncating variants. Six SNPs (3 in ACVRL1, 1 in ENG, 1 in SMAD5, and 1 in ADAM17) were significantly associated with HAVMs. After correction for multiple testing, only one remained significantly associated (rs2277383). Conclusions In this large association study, we confirmed the strong relationship between ACVRL1 and the development of HAVMs. Common polymorphisms of ACVRL1 may also play a role in the development of HAVMs, as a modifying factor, independently of the disease-causing variants.

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Is oestrogen therapy justified in the treatment of hereditary haemorrhagic telangiectasia: a biochemical evaluation

Cited by 21 publications

References 40 publications

Hormonal and Antihormonal Therapy for Epistaxis in Hereditary Hemorrhagic Telangiectasia

Hormonal and Antihormonal Therapy for Epistaxis in Hereditary Hemorrhagic Telangiectasia

Gender differences in hereditary hemorrhagic telangiectasia severity

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

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