Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years

Brinjikji, Waleed; Iyer, Vivek N.; Yamaki, Vítor Nagai; Lanzino, Giuseppe; Cloft, Harry J.; Thielen, Kent R.; Swanson, Karen L.; Wood, Christopher P.

doi:10.3174/ajnr.a4762

Cited by 42 publications

(38 citation statements)

References 24 publications

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“…Cerebral AVMs affect ~10% of HHT patients 128. Guidelines published in 20118 were generated in 2006 prior to publication of the ARUBA trial that demonstrated that based on the treatments available at that time, a bleed or other neurological sequelae were more likely if a cerebral AVM, which had not previously bled, was actively treated rather than if managed conservatively 129.…”

Section: Section 3: Screening Recognition and Diagnosismentioning

confidence: 99%

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Shovlin

Condliffe

Donaldson³

et al. 2017

Thorax

121

165

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Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals. The driver for the current Clinical Statement was the plethora of new data since previous hereditary haemorrhagic telangiectasia (HHT) guidelines generated in 2006 and a systematic Cochrane Review for PAVM embolisation in 2011. The British Thoracic Society (BTS) identified key areas in which there is now evidence to drive a change in practice. Due to the paucity of data in children, this Statement focused on adults over 16 years. The Statement spans the management of PAVMs already known to be present (interventional and medical), screening and diagnosis (for PAVMs and HHT) and follow-up of patients following a first diagnosis, intervention or negative screen for PAVMs. The Good Practice Points (in bold) were generated for a target audience of general respiratory, medical and specialist clinicians and were approved by the BTS Standards of Care Committee, before formal peer review and public consultation. The Statement spans embolisation treatment, accessory medical management and issues related to the likelihood of underlying HHT.

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Section: Section 3: Screening Recognition and Diagnosismentioning

confidence: 99%

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Shovlin

Condliffe

Donaldson³

et al. 2017

Thorax

121

165

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“…22). [205][206][207] Most likely, many of these internal lesions reflect T2SM, in analogy to the AVMs observed in rhodoid naevus syndrome (see above). Molecular research may show whether this assumption holds true.…”

Section: Cutaneous T2smmentioning

confidence: 90%

“…Associated AVMs may involve various internal organs such as the brain, spinal cord, liver or lungs (Fig. ) . Most likely, many of these internal lesions reflect T2SM, in analogy to the AVMs observed in rhodoid naevus syndrome (see above).…”

Section: Vascular Disordersmentioning

confidence: 94%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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“…Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder with an autosomal dominant inheritance and variable penetrance characterized by structural abnormalities of the vasculature, resulting in mucocutaneous telangiectasias and arteriovenous malformations (AVMs) that may involve various organs including the brain, lungs, and the gastrointestinal (GI) tract [1][2][3][4]. Prevalence of HHT as suggested by epidemiological studies ranges from 1:5,000 to 1:8,000 [5][6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Pathologically Complete Response after Triple Therapy in Locally Advanced Esophageal Cancer in a Hereditary Hemorrhagic Telangiectasia Patient

et al. 2020

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Hereditary hemorrhagic telangiectasia (HHT) is a disorder characterized by vascular manifestations including mucocutaneous and visceral telangiectasias and arteriovenous malformations. Herein we present the case of a relatively young patient with HHT with an incidentally discovered locally advanced esophageal cancer on endoscopic screening and pathologically complete response after neoadjuvant chemoradiation. This case highlights an unusual tumor response to chemoradiation in locally advanced esophageal cancer, and the surveillance care of HHT patients.

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Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years

Cited by 42 publications

References 24 publications

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Pathologically Complete Response after Triple Therapy in Locally Advanced Esophageal Cancer in a Hereditary Hemorrhagic Telangiectasia Patient

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