Value of Capillary Microscopy in the Diagnosis of Hereditary Hemorrhagic Telangiectasia

Mager, Johannes J.; Westermann, C. J. J.

doi:10.1001/archderm.136.6.732

Cited by 40 publications

(25 citation statements)

References 16 publications

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“…7,8 Thirty to 40% of patients have pulmonary and hepatic AVMs, and 10 -20% have cerebral AVMS; when larger than 2-3 mm, they are easily detected by MR or CT. Telangiectases of the skin, buccal mucosa, and gastrointestinal mucosa occur in about 75% of individuals and become more numerous and larger with age. Small lesions of the digital nail beds can be viewed by capillaroscopy, 9,10 and this approach has been advanced as an aid to diagnosis when clinical criteria are minimal. Unfortunately, the equipment and expertise for capillaroscopy are not readily available in outpatient settings.…”

Section: Discussionmentioning

confidence: 99%

Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia

Mohler

Doraiswamy

Sibley

et al. 2009

Genetics in Medicine

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Section: Discussionmentioning

confidence: 99%

Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia

Mohler

Doraiswamy

Sibley

et al. 2009

Genetics in Medicine

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“…Since the value of capillary microscopy in the diagnosis of Osler-Weber-Rendu disease has been assessed in a recent paper [3], we performed videocapillaroscopy (VCP) at the nailfold and labial mucosa in a patient with HBT. To the best of our knowledge, there is no extensive capillaroscopic documentation of such patients.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Benign Telangiectasia: Videocapillaroscopic Findings

et al. 2003

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“…Telangiectases can be detected in more than 80% of HHT patients (3), but sometimes they are not visible or are barely visible with the naked eye. For this reason, capillary microscopy is a valuable tool in the diagnosis of HHT (4). The alterations that can be observed are giant loops, often with tortuous configuration and prominent enlargement of the draining limb between normal capillaries.…”

Section: Hht Clinical Signsmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia (HHT) in Dentistry: A Literature Review

et al. 2006

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Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominantly-inherited vascular dysplasia characterized by age-dependant incomplete penetrance and variable expressivity, with clinical manifestations consisting in epistaxis, mucocutaneous telangiectases, gastrointestinal bleeding and arteriovenous malformations (AVMs), which affects approximately Yz million people world-wide. It affects males and females of all racial and ethnic groups. Up to Ih of HHT patients have multiple organ involvement, which can be disabling and/or life threatening. HHT can be treated successfully if correctly diagnosed. Morbidity of HHT is often due to complications of AVMs, such as stroke or haemorrhage, also known to occur in children. Many authors have reported successful new therapeutical options for AVMs, which have resulted in a significant decrease of life-threatening complications and HHT morbidity. Since early diagnosis permits an appropriate care of affected subjects, a very sensitive mutation screening technique is required to identify the mutation carriers among all at-risk individuals belonging to HHT-families. There may be one or more genes that cause HHT but, if so, they are quite rare. Currently, scientists are trying to better understand exactly how the abnormal gene can interfere with normal blood vessel formation and promote the phenotype of HHT, so that better treatments for the symptoms of HHT can be developed.Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal-dominant disorder in which abnormal communications between arteries and veins, the so-called teleangiectases, occur in skin, mucosal surfaces and solid organs. Telangiectases often "break" and bleed after slight trauma. Spontaneous and recurrent epistaxis is the most common symptom. It begins by the age of 10 years and tends to be increasingly frequent as the time goes by.It may compromise/damage the patient's quality of life and cause anemia, requiring oral iron supplementation or blood transfusions. Moreover, affected patients can suffer from chronic blood loss, hypoxemia, hepatic dysfunction and high-output cardiac failure. HHT is an uncommon disease with a prevalence of 1:8000 (1), even if it is probably underdiagnosed in affected individuals because of

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Value of Capillary Microscopy in the Diagnosis of Hereditary Hemorrhagic Telangiectasia

Cited by 40 publications

References 16 publications

Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia

Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia

Hereditary Benign Telangiectasia: Videocapillaroscopic Findings

Hereditary Hemorrhagic Telangiectasia (HHT) in Dentistry: A Literature Review

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