Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia) Questions & Answers

Updated: Mar 26, 2018
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD  more...
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Questions & Answers

Overview

What is Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the clinical diagnostic criteria for Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of genetic testing and screening for Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

How is Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) managed?

What is the pathophysiology of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What causes telangiectases and AVM bleeding in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the types of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of genetics in the pathophysiology of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What causes Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the incidence of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) in the US?

What is the global prevalence of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which patient groups are at highest risk for Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the prognosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Presentation

Which history is characteristic of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the signs and symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

How is epistaxis characterized in patients with Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the pulmonary symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the history of telangiectasia suggestive of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the neurologic symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the GI and hepatic symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the symptoms of anemia in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What causes visual disturbances in in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the common sites of involvement in patients with Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which skin exam findings are characteristic of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the characteristics of epistaxis in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the signs and symptoms of pulmonary AVMs in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the prevalence of pulmonary AVM in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the reported causes of death in patients with Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What causes pulmonary hypertension in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the CNS symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) affecting the central nervous system?

What are the GI symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) affecting the GI tract?

What is the prevalence of liver involvement in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) and what are the manifestations?

What are the most common clinical patterns of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the cardiovascular manifestations of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) affecting the cardiovascular system?

Which findings on funduscopic exam suggest Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) affecting the eyes?

How is pregnancy affected by Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the complications of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

DDX

How is Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT]) diagnosed?

Which conditions should be included in the differential diagnoses of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the differential diagnoses for Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)?

Workup

What is the role of lab studies in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which tests are performed to screen for Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which lab studies are performed for the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of oximetry in the evaluation of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of arterial blood gas assessment in the evaluation of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of radiography in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of CT scanning in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of MRI in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of angiography in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of ultrasonography and contrast echocardiography in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of genetic testing in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of endoscopy in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of biopsy in the diagnosis of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which histologic findings are characteristic of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Treatment

What are the treatment options for Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the nonoperative treatments for epistaxis in to Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What are the treatment options for severe epistaxis in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the efficacy of the treatments for epistaxis in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of septal dermoplasty in the treatment of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of endovascular embolization in the treatment of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is the role of N-acetylcysteine in the treatment of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

How is GI bleeding treated in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

How is pulmonary arteriovenous malformation (AVM) treated in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

How is hepatic arteriovenous malformation (AVM) treated in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which specialists should be consulted for the treatment of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

What is included in the long-term monitoring of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Medications

Which medications are used in the treatment of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Which medications in the drug class Antineoplastics, Monoclonal Antibody are used in the treatment of Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)?

Which medications in the drug class Immunomodulators are used in the treatment of Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)?

Which medications in the drug class Antifibrinolytic Agents are used in the treatment of Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)?

Which medications in the drug class Estrogens/Progestins are used in the treatment of Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)?

Which medications in the drug class Iron Salts are used in the treatment of Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia)?