Estrogen and Progesterone Receptors in Hereditary Hemorrhagic Telangiectasia

Richtsmeier, William J.; Weaver, Gary A.; Streck, William F.; Jacobson, Herbert I.; Dewell, Robert; Olson, John E.

doi:10.1177/019459988409200511

Cited by 45 publications

(28 citation statements)

References 16 publications

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“…This may reflect a fundamental modification of the HHT vasculature by female hormones, or relate to haemodynamic changes during pregnancy 63. A role for direct hormonal influences is supported by the successful treatment of HHT related gastrointestinal bleeding using combined oestrogen-progesterone therapy,21 a report of progesterone receptors in vessels of patients with HHT,144 and variations in epistaxis during the menstrual cycle and menopause 63. Haemodynamic changes can also exacerbate PAVMs, including the development of pulmonary hypertension as a result of mitral stenosis145or left ventricular dysfunction 146.…”

Section: Current Understandings Of Mechanismsmentioning

confidence: 99%

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Shovlin¹,

Letarte²

1999

Thorax

358

310

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Hereditary haemorrhagic telangiectasia (HHT, Rendu-Osler-Weber syndrome) exemplifies an important group of diseases which have catalysed advances in the understanding of fundamental pathophysiological mechanisms. In this paper areas of clinical management of HHT are discussed and the molecular pathogenesis is reviewed. The first section is aimed at all clinicians and concentrates on the recognition of a disorder in which silent cerebral and pulmonary involvement may be life threatening if left untreated. Recent data concerning the diagnostic and treatment modalities for pulmonary arteriovenous malformations (PAVMs) are also reviewed, and the growing concern that many patients with HHT may have small or residual PAVMs is highlighted. The paucity of good longitudinal data on these patients and others with diVerent forms of HHT highlights the need for further clinical studies. In the second section the results of molecular research which suggests a role for receptors and ligands of the transforming growth factor (TGF)-superfamily in the pathogenesis of this vascular disease are discussed. The means by which such information may relate to the clinical heterogeneity observed in HHT are specifically addressed, and more fundamental questions such as how reduced cell surface expression of endoglin predisposes a patient to develop PAVMs are also discussed. Hereditary haemorrhagic telangiectasiaThe classical patient with the vascular disorder hereditary haemorrhagic telangiectasia (HHT) has nose bleeds, dilated blood vessels over the lips and finger tips, and gastrointestinal bleeding in later life. However, this clinical scenario represents only one of the presentation patterns of HHT.1 2 It is now recognised that, in addition to microscopic mucocutaneous telangiectases derived from post capillary venules ( fig 1A), 3 HHT leads to the development of larger abnormal vascular structures at other sites. Arteriovenous malformations in the pulmonary, cerebral, and hepatic circulations account for some of the most devastating clinical complications of the disease.The autosomal dominant inheritance pattern of HHT has enabled identification of the underlying genetic defects, prompting increased scientific interest in the disorder. Mutations in at least two genes have been shown to be associated with HHT in diVerent families: endoglin on chromosome 9, 4 and ALK-1 (activin receptor-like kinase 1) on chromosome 12.5 Both genes encode endothelial cell transmembrane proteins that can be defined as components of the receptor complexes for growth factors of the TGF-super- Figure 1 Hereditary haemorrhagic telangiectasia (HHT). (A) Mucocutaneous

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Section: Current Understandings Of Mechanismsmentioning

confidence: 99%

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Shovlin¹,

Letarte²

1999

Thorax

358

310

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“…Estrogens increase plasma vWF levels in both normal as well as vWd patients and birth control pills have been used to control menorrhagia in patients with vWd. Finally, estrogen and progesterone receptors have also been demonstrated in the nasal tissue and skin of four patients with AVMs but not in the tissue of normal controls [34].…”

Section: Discussionmentioning

confidence: 94%

Angiodysplasia and von willebrand's disease type IIB treated with estrogen/progesterone therapy

1992

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The association between angiodysplasia and von Willebrand's disease was first reported in 1967. The cases reported to date have involved patients with type I and IIA von Willebrand's disease. We report a patient with type IIB von Willebrand's disease who suffered gastrointestinal bleeding attributable to gastric angiodysplasia. The patient underwent endoscopic electrocautery acutely and has been treated long-term with estrogen/progesterone therapy. She has suffered no recurrent gastrointestinal bleeding at over 11 months of follow-up. We suggest hormonal therapy as an alternative to repeated blood product transfusion or extensive surgical resection in patients with von Willebrand's disease and gastrointestinal bleeding from angiodysplasia.

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“…Reviewing the related literature, only two articles were found that addressed the detection of estrogen and progesterone receptors in tissue specimens of HHT patients [17,18]. Richtsmeier et al [17] examined a small sample of three biopsies using a ligandbinding assay and found progesterone receptors in three of three nasal mucosa specimens, two of which also contained estrogen receptors.…”

Section: Discussionmentioning

confidence: 99%

“…Richtsmeier et al [17] examined a small sample of three biopsies using a ligandbinding assay and found progesterone receptors in three of three nasal mucosa specimens, two of which also contained estrogen receptors. In 2000, Pau et al presented their study after using the more sensitive immunohistochemistry [18].…”

Section: Discussionmentioning

confidence: 99%

Lack of significant estrogen and progesterone receptor expression in nasal telangiectasias in hereditary hemorrhagic telangiectasia: An immunohistochemical analysis

Eivazi

Werner²,

Roessler

et al. 2011

Acta Oto-Laryngologica

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Estrogen and Progesterone Receptors in Hereditary Hemorrhagic Telangiectasia

Cited by 45 publications

References 16 publications

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Angiodysplasia and von willebrand's disease type IIB treated with estrogen/progesterone therapy

Lack of significant estrogen and progesterone receptor expression in nasal telangiectasias in hereditary hemorrhagic telangiectasia: An immunohistochemical analysis

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