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Hereditary Hemorrhagic Telangiectasia (hereditary + hemorrhagic_telangiectasia)

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Medical Sciences100%

Selected Abstracts

Hereditary Hemorrhagic Telangiectasia: A Review of 76 Cases,

THE LARYNGOSCOPE, Issue 5 2002
Rahul K. Shah MD
Abstract Objectives/Hypothesis Hereditary hemorrhagic telangiectasia has long been viewed as a rare condition. Recent evidence indicates that the disorder is more frequent than previously thought. Recalcitrant epistaxis is a salient feature of this disease, and the otolaryngologist is often called on to make the diagnosis and guide the primary management of patients with hereditary hemorrhagic telangiectasia. Wider recognition of this condition, awareness of the natural history and associated findings, appropriate workup and screening for arteriovenous malformations (lungs, brain, liver), and knowledge of appropriate interventions can help avoid the considerable morbidity associated with hereditary hemorrhagic telangiectasia. Study Design Retrospectivereview. Methods Records of patients treated by the senior author (s.m.s.) for hereditary hemorrhagic teleangiectasia from 1993 to 2000 were reviewed. Results Seventy-six patients were identified, 98% of whom had epistaxis as their presenting complaint, with 75% having a family history of hereditary hemorrhagic telangiectasia. The severity of epistaxis varied in the patients: 66% had mild, 21% moderate, and 13% severe epistaxis. Sixty-four percent of patients had no transfusions, 25% had 1 to 10 transfusions, and 11% of patients had more than 10 transfusions. Complications of hereditary hemorrhagic telangiectasia were documented in 30% of patients. Screening for arteriovenous malformations was performed in only 34% of patients. Eighty-two percent of patients received a variable number of Nd:YAG laser treatments. Conclusions The study presents the largest retrospective review of patients treated for hereditary hemorrhagic telangiectasia by a single otolaryngologist. The importance of a multidisciplinary approach facilitated by the otolaryngologist for evaluation of concomitant complications and morbidity (arteriovenous malformations) from hereditary hemorrhagic telangiectasia is demonstrated. An algorithm for controlling the epistaxis is presented. [source]

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 7 2010
S. DUPUIS-GIROD
Summary., Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous malformations of various types, including pulmonary, hepatic, cerebral, and spinal. Gastrointestinal telangiectases are frequent and may cause severe bleeding. HHT type 1 results from mutations in ENG on chromosome 9 (coding for endoglin), and HHT type 2 results from mutations in ACVRL1 on chromosome 12 (coding for activin receptor-like kinase 1). Mutations of either of these two genes account for most clinical cases. In addition, mutations in MADH4 (encoding SMAD4), which cause a juvenile polyposis/HHT overlap syndrome, have been described, and recently, an HHT3 locus on chromosome 5 (5q31.3,5q32) has been reported. The mutated genes in HHT encode proteins that modulate transforming growth factor-, superfamily signaling in vascular endothelial cells. Management of patients has changed considerably in the last 20 years, in terms of both treatment and the prevention of complications. The goal of this review was to describe the underlying molecular and cellular physiopathology, explore clinical and genetic diagnostic strategies for HHT, and present clinical management recommendations in order to treat symptomatic disease and to screen for vascular malformations. [source]

An epistaxis severity score for hereditary hemorrhagic telangiectasia,

THE LARYNGOSCOPE, Issue 4 2010
Jeffrey B. Hoag MD
Abstract Objectives/Hypothesis: Hereditary hemorrhagic telangiectasia (HHT)-related epistaxis leads to alterations in social functioning and quality of life. Although more than 95% experience epistaxis, there is considerable variability of severity. Because no standardized method exists to measure epistaxis severity, the purpose of this study was to determine factors associated with patient-reported severity to develop a severity score. Study Design: Prospective, survey-based study. Methods: HHT care providers and a focus group of patients were interviewed to determine epistaxis-associated factors. From this, an electronic survey was developed and administered to patients with HHT. Descriptive analyses were performed with calculations of means and medians for continuous and proportions for categorical variables. Multiple ordinal logistic and linear regression models were developed to determine risk factors for epistaxis severity. Results: Nine hundred respondents from 21 countries were included. Eight hundred fifty-five (95%) subjects reported epistaxis. The mean (standard deviation) age was 52.1 (13.9) years, and 61.4% were female. Independently associated risk factors for self-reported epistaxis severity included epistaxis frequency (odds ratio [OR] 1.57), duration (OR 2.17), intensity (OR 2.45), need for transfusion (OR 2.74), anemia (OR 1.44), and aggressiveness of treatment required (OR 1.53, P < .001 for all). Conclusions: Risk factors for increasing epistaxis severity in patients with HHT include frequency, duration, and intensity of episodes; invasiveness of prior therapy required to stop epistaxis; anemia; and the need for blood transfusion. From these factors, an epistaxis severity score will be presented. Laryngoscope, 2010 [source]

Hereditary Hemorrhagic Telangiectasia: A Review of 76 Cases,

THE LARYNGOSCOPE, Issue 5 2002
Rahul K. Shah MD
Abstract Objectives/Hypothesis Hereditary hemorrhagic telangiectasia has long been viewed as a rare condition. Recent evidence indicates that the disorder is more frequent than previously thought. Recalcitrant epistaxis is a salient feature of this disease, and the otolaryngologist is often called on to make the diagnosis and guide the primary management of patients with hereditary hemorrhagic telangiectasia. Wider recognition of this condition, awareness of the natural history and associated findings, appropriate workup and screening for arteriovenous malformations (lungs, brain, liver), and knowledge of appropriate interventions can help avoid the considerable morbidity associated with hereditary hemorrhagic telangiectasia. Study Design Retrospectivereview. Methods Records of patients treated by the senior author (s.m.s.) for hereditary hemorrhagic teleangiectasia from 1993 to 2000 were reviewed. Results Seventy-six patients were identified, 98% of whom had epistaxis as their presenting complaint, with 75% having a family history of hereditary hemorrhagic telangiectasia. The severity of epistaxis varied in the patients: 66% had mild, 21% moderate, and 13% severe epistaxis. Sixty-four percent of patients had no transfusions, 25% had 1 to 10 transfusions, and 11% of patients had more than 10 transfusions. Complications of hereditary hemorrhagic telangiectasia were documented in 30% of patients. Screening for arteriovenous malformations was performed in only 34% of patients. Eighty-two percent of patients received a variable number of Nd:YAG laser treatments. Conclusions The study presents the largest retrospective review of patients treated for hereditary hemorrhagic telangiectasia by a single otolaryngologist. The importance of a multidisciplinary approach facilitated by the otolaryngologist for evaluation of concomitant complications and morbidity (arteriovenous malformations) from hereditary hemorrhagic telangiectasia is demonstrated. An algorithm for controlling the epistaxis is presented. [source]

Liver transplantation for cardiac failure in patients with hereditary hemorrhagic telangiectasia

LIVER TRANSPLANTATION, Issue 7 2005
Thierry Thevenot
Liver involvement in hereditary hemorrhagic telangiectasia may lead to high-output cardiac failure. Few data have been reported on orthotopic liver transplantation (OLT) for these patients. In this paper, we describe two patients treated by OLT as a salvage procedure for cardiac failure, and we review literature on this subject. Our two patients resumed normal cardiac function after OLT. This procedure appears to be a promising therapy with good long-term results despite dissection difficulties encountered due to the collateral arterial network reorganization. (Liver Transpl 2005;11:834,838.) [source]

An epistaxis severity score for hereditary hemorrhagic telangiectasia,

THE LARYNGOSCOPE, Issue 4 2010
Jeffrey B. Hoag MD
Abstract Objectives/Hypothesis: Hereditary hemorrhagic telangiectasia (HHT)-related epistaxis leads to alterations in social functioning and quality of life. Although more than 95% experience epistaxis, there is considerable variability of severity. Because no standardized method exists to measure epistaxis severity, the purpose of this study was to determine factors associated with patient-reported severity to develop a severity score. Study Design: Prospective, survey-based study. Methods: HHT care providers and a focus group of patients were interviewed to determine epistaxis-associated factors. From this, an electronic survey was developed and administered to patients with HHT. Descriptive analyses were performed with calculations of means and medians for continuous and proportions for categorical variables. Multiple ordinal logistic and linear regression models were developed to determine risk factors for epistaxis severity. Results: Nine hundred respondents from 21 countries were included. Eight hundred fifty-five (95%) subjects reported epistaxis. The mean (standard deviation) age was 52.1 (13.9) years, and 61.4% were female. Independently associated risk factors for self-reported epistaxis severity included epistaxis frequency (odds ratio [OR] 1.57), duration (OR 2.17), intensity (OR 2.45), need for transfusion (OR 2.74), anemia (OR 1.44), and aggressiveness of treatment required (OR 1.53, P < .001 for all). Conclusions: Risk factors for increasing epistaxis severity in patients with HHT include frequency, duration, and intensity of episodes; invasiveness of prior therapy required to stop epistaxis; anemia; and the need for blood transfusion. From these factors, an epistaxis severity score will be presented. Laryngoscope, 2010 [source]

Hereditary Hemorrhagic Telangiectasia: A Review of 76 Cases,

THE LARYNGOSCOPE, Issue 5 2002
Rahul K. Shah MD
Abstract Objectives/Hypothesis Hereditary hemorrhagic telangiectasia has long been viewed as a rare condition. Recent evidence indicates that the disorder is more frequent than previously thought. Recalcitrant epistaxis is a salient feature of this disease, and the otolaryngologist is often called on to make the diagnosis and guide the primary management of patients with hereditary hemorrhagic telangiectasia. Wider recognition of this condition, awareness of the natural history and associated findings, appropriate workup and screening for arteriovenous malformations (lungs, brain, liver), and knowledge of appropriate interventions can help avoid the considerable morbidity associated with hereditary hemorrhagic telangiectasia. Study Design Retrospectivereview. Methods Records of patients treated by the senior author (s.m.s.) for hereditary hemorrhagic teleangiectasia from 1993 to 2000 were reviewed. Results Seventy-six patients were identified, 98% of whom had epistaxis as their presenting complaint, with 75% having a family history of hereditary hemorrhagic telangiectasia. The severity of epistaxis varied in the patients: 66% had mild, 21% moderate, and 13% severe epistaxis. Sixty-four percent of patients had no transfusions, 25% had 1 to 10 transfusions, and 11% of patients had more than 10 transfusions. Complications of hereditary hemorrhagic telangiectasia were documented in 30% of patients. Screening for arteriovenous malformations was performed in only 34% of patients. Eighty-two percent of patients received a variable number of Nd:YAG laser treatments. Conclusions The study presents the largest retrospective review of patients treated for hereditary hemorrhagic telangiectasia by a single otolaryngologist. The importance of a multidisciplinary approach facilitated by the otolaryngologist for evaluation of concomitant complications and morbidity (arteriovenous malformations) from hereditary hemorrhagic telangiectasia is demonstrated. An algorithm for controlling the epistaxis is presented. [source]