eMedicine Specialties > Pediatrics: General Medicine > Hematology

Osler-Weber-Rendu Syndrome: Differential Diagnoses & Workup

Author: Lawrence C Wolfe, MD, Professor, Department of Pediatrics, Tufts University School of Medicine; Chief of Transfusion Service, Chief, Division of Pediatric Hematology/Oncology, New England Medical Center, Floating Hospital for Infants and Children
Coauthor(s): Arun Panigrahi, MD, Resident Physician, Department of Pediatrics, Tufts University School of Medicine; Norman A Silver, MD, Assistant Professor, Department of Emergency Medicine, University of Manitoba, Canada
Contributor Information and Disclosures

Updated: Dec 5, 2008

Differential Diagnoses

Cockayne Syndrome

Other Problems to Be Considered

Crest syndrome
Louis-Bar syndrome
Ataxia-telangiectasia
Essential telangiectasia
Acne rosacea
Actinically damaged skin
Dermatomyositis
Rothmund-Thomson syndrome
Scleroderma

Workup

Laboratory Studies

At specific centers, genetic tests are available for various mutations in the endoglin gene found on chromosome 9 and the activin receptorlike kinase gene found on chromosome 12. Currently, no laboratory studies are widely available to confirm the diagnosis of Osler-Weber-Rendu syndrome. However, certain laboratory tests may be helpful in identifying specific complications.

  • CBC count
    • Hemoglobin may be decreased because of chronic bleeding and iron deficiency anemia, or the patient may be polycythemic because of chronic hypoxemia from a right-to-left shunt.
    • Platelets may be normal or slightly increased.
    • The WBC count should be within the reference range unless an infectious complication, such as a brain abscess, is present.
  • Prothrombin time and activated partial thromboplastin time: These values should be normal, unless severe liver involvement is present. A preliminary study also points to the usefulness of factor VIII antigen levels; elevated levels may influence thrombotic risk in Osler-Weber-Rendu syndrome.3
  • ABG
    • If a right-to-left shunt is present, the pO2 is low.
    • Performing a hyperoxic test with the arterial blood gas confirms the diagnosis of a right-to-left shunt. A minor increase in the arterial partial pressure of oxygen while the patient is on 100% oxygen indicates the presence of a shunt. In the absence of a shunt, the arterial partial pressure of oxygen should increase to a much larger extent.
    • Screening with a hyperoxic test is shown to have 100% sensitivity and 40% specificity for the detection of pulmonary arteriovenous malformations (AVMs) in patients with Osler-Weber-Rendu syndrome who are suspected of having an AVM.

Imaging Studies

  • Because of the prevalence of AVMs and associated sequelae, screening tests using multiple imaging modalities have become the standard of care for patients with Osler-Weber-Rendu syndrome. Some centers also use screening for asymptomatic children with a family history of Osler-Weber-Rendu syndrome in an effort to reduce serious complications associated with AVMs.
  • Chest radiography followed by agitated saline solution transthoracic contrast echocardiography (TTCE) with grading is now recommended as the screening test of choice for pulmonary AVMs in patients with Osler-Weber-Rendu syndrome. This modality in initial studies may have superior sensitivity compared with CT scanning; however, because long-term follow-up data are not currently available, all patients with even low-grade evidence of pulmonary pathology on TTCE require CT imaging as a confirmatory study.
  • If a pulmonary AVM is present, chest radiography may reveal a peripheral noncalcified coin lesion attached by vascular strands to the hilus.
  • CT scanning may be used to better delineate AVMs of the lung or head. It may also reveal larger brain abscesses.
  • MRI scanning is the primary screening modality for cerebral AVMs as well as telangiectasias in the CNS. 
  • Doppler ultrasonography of the liver may be used for screening and first-line imaging in patients with Osler-Weber-Rendu syndrome for hepatic AVM and other associated sequelae.
  • Angiography is used to map the exact extent of the vascular lesions, usually when surgery is contemplated.

Other Tests

  • Colonoscopy reveals GI telangiectasias as small well-defined lesions surrounded by an anemic halo.
  • Videocapsule endoscopy may be used because it often reveals telangiectasias unnoticed in the GI tract in patients with unknown sources of bleeding.

Histologic Findings

  • Biopsies of affected areas of the skin reveal focal dilatations of postcapillary venules in the dermal upper-horizontal plexus.
  • Abnormal stress fibers are present in the venule pericytes. These findings vary from other forms of hereditary telangiectasia. 
  • Liver biopsies in patients with significant liver involvement often reveal pseudocirrhosis due to shunting from the hepatic artery to the hepatic vein or shunting from the hepatic artery to the portal vein. 

More on Osler-Weber-Rendu Syndrome

Overview: Osler-Weber-Rendu Syndrome
Differential Diagnoses & Workup: Osler-Weber-Rendu Syndrome
Treatment & Medication: Osler-Weber-Rendu Syndrome
Follow-up: Osler-Weber-Rendu Syndrome
References
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References

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Further Reading

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Keywords

Osler-Weber-Rendu syndrome, hereditary hemorrhagic telangiectasia, HHT, Rendu-Osler-Weber syndrome, heredofamilial angiomatosis, familial hemorrhagic angiomatosis, Osler's disease, Osler disease, multiorgan arteriovenous malformation, AVM, aneurysm, high-output heart failure, cerebral abscess, ischemic stroke, migraines, epistaxis, brain abscess, nosebleeds, dyspnea, exercise intolerance, hemoptysis, iron deficiency anemia, cirrhosis

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Contributor Information and Disclosures

Author

Lawrence C Wolfe, MD, Professor, Department of Pediatrics, Tufts University School of Medicine; Chief of Transfusion Service, Chief, Division of Pediatric Hematology/Oncology, New England Medical Center, Floating Hospital for Infants and Children
Lawrence C Wolfe, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Blood Banks, American Society of Hematology, Children's Oncology Group, and Eastern Society for Pediatric Research
Disclosure: Nothing to disclose.

Coauthor(s)

Arun Panigrahi, MD, Resident Physician, Department of Pediatrics, Tufts University School of Medicine
Arun Panigrahi, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and Massachusetts Medical Society
Disclosure: Nothing to disclose.

Norman A Silver, MD, Assistant Professor, Department of Emergency Medicine, University of Manitoba, Canada
Norman A Silver, MD is a member of the following medical societies: American Academy of Pediatrics and Canadian Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Sharada A Sarnaik, MB, BS, Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Attending Hematologist/Oncologist, Children's Hospital of Michigan
Sharada A Sarnaik, MB, BS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

James L Harper, MD, Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center
James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Samuel Gross, MD, Professor Emeritus, Department of Pediatrics, University of Florida, Clinical Professor, Department of Pediatrics, UNC, Adjunct Professor, Department of Pediatrics, Duke University
Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Executive Director, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

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