Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)

Guttmacher, Alan E.; Marchuk, Douglas A.; Trerotola, Scott O.; Pyeritz, Reed E.

doi:10.1016/b978-0-12-383834-6.00055-0

Cited by 3 publications

(1 citation statement)

References 198 publications

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“…In addition, arterio-venous malformations can be found in several organs as well as a positive family history. With advance of age, the telangiectasis increase in number and in prominence, and episodes of bleeding become more frequent (4). Bleeding telangiectasis in the genitourinary tract may be controlled by local or systemic measures.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia: A Case Report with Hematuria as Primary Presentation

Albrahim,

Swellam

2021

JOHS

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Hematuria is a concerning sign that warrants evaluation because it may signal the presence of a genitourinary malignancy. Full urologic evaluation for hematuria must be done after excluding pseudohematuria, history of nephrological pathology, trauma, or recent urologic manipulation. One of the rare causes of gross hematuria: hereditary hemorrhagic telangiectasia (HHT) that must be considered in the differential diagnosis of haematuria of unknown cause. In this case we describe a rare primary presentation of hereditary hemorrhagic telangiectasia with painless gross haematuria and urethral bleeding. We present a case of a 21-year-old Saudi male with a history of painless gross haematuria and urethral bleeding. Urinary tract infection (UTI), nephropathy and bleeding diathesis had been investigated and were excluded. Computed tomography (CT) scan showed no pathological lesions. The patient underwent urethro-cystoscopy and multiple telangiectatic lesions were observed in the penile urethra and in the trigone of the bladder. We also found another telangiectasias lesion in the oral mucosa. With these findings, this patient was diagnosed with probable HHT based on Curaçao’s diagnostic criteria. However, other differential diagnoses other than solitary telangiectasia of the bladder were excluded. HHT, despite a rare cause, must be considered in the differential diagnosis of haematuria of unknown cause. Conservative management with close follow up to prevent complications can be a potential line of management in these cases with stable condition before proceeding to medical or surgical treatment.

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Section: Introductionmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia: A Case Report with Hematuria as Primary Presentation

Albrahim,

Swellam

2021

JOHS

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Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy

Sexton

Gargan

Taylor

et al. 2019

Psychology & Health

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Thalidomide as an effective treatment in a case of Osler Weber Rendu syndrome: a case report

Bandyopadhyay

Gangopadhyay³

2016

Asian J Med Sci

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Osler Weber Rendu Syndrome (OWRS), or Hereditary Hemorrhagic telangiectasia (HHT) is an autosomal dominant disease presents with epistaxis, telangiactesia and multiorgan vascular dysplasia. Recurrent epistaxis is common in these patients and various local forms of therapy is tried to treat the condition, but there is lack of definitive and effective treatment. We present a patient of HHT with severe recurrent epistaxis successfully treated with thalidomide.Asian Journal of Medical Sciences Vol.7(4) 2016 107-109

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Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)

Cited by 3 publications

References 198 publications

Hereditary Hemorrhagic Telangiectasia: A Case Report with Hematuria as Primary Presentation

Hereditary Hemorrhagic Telangiectasia: A Case Report with Hematuria as Primary Presentation

Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy

Thalidomide as an effective treatment in a case of Osler Weber Rendu syndrome: a case report

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