Osler-Weber-Rendu Disease Workup

  • Author: Perry A Soriano, MD; Chief Editor: William H Pearce, MD   more...
 
Updated: Dec 15, 2008
 

Laboratory Studies

CBC count, bleeding time, and coagulation profile findings may exclude a concurrent disorder or coagulopathy.

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Imaging Studies

  • Chest radiograph: Posteroanterior and lateral chest radiographs may reveal a mass of enlarged arteries and veins typical of pulmonary arteriovenous malformation (AVM). Commonly found in the posterior lung bases, these lesions may also be hidden by the diaphragm.
  • CT scanning: Helical CT scanning has been advocated as a screening method for pulmonary AVM. However, detractors believe the radiation exposure is unnecessary and the cost is prohibitive.
    • CT scanning of the head is indicated in the workup of stroke and brain abscess and may reveal AVM.
    • Abdominal CT scanning may be useful for liver, kidney, and splenic lesions.
  • Magnetic resonance imaging: MRI or magnetic resonance angiography (MRA) may be useful, when clinical suspicion is high, in identifying CNS lesions not observed with CT scanning.
  • Angiography: Preoperative or pre-ablative assessment of pulmonary AVM may warrant angiography for treatment planning. Mesenteric angiography may reveal a bleeding site or mesenteric AVM and facilitate appropriate surgical extirpation. As with other causes of GI bleeding, a hemorrhage rate of at least 1 mL/min is necessary for detection.
    • Mesenteric angiography may reveal a bleeding site or mesenteric AVM and facilitate appropriate surgical extirpation. As with other causes of GI bleeding, a hemorrhage rate of at least 1 mL/min is necessary for detection.
    • Cerebral angiography may be indicated in the preoperative workup of CNS lesions.
    • Nuclear medicine bleeding scanning: GI bleeding of as little as 0.5 mL/min may be detected with technetium Tc 99m–labeled autologous RBC scanning.
  • Contrast echocardiography: Contrast echocardiography has been shown to reveal pulmonary AVM when pulse oximetry examination or even pulmonary angiography findings were negative. Agitated saline, with its small air bubbles, creates visible contrast that can be observed in the left atrium on echocardiography. The presence of contrast in the left atrium indicates right-to-left shunt. The ability to detect intracardiac shunts is an advantage of this study over other shunt studies.[55]
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Other Tests

  • MR (magnetic resonance) angiography: Contrast-enhanced MRI scanning was shown to be appropriate for screening detection of pulmonary AVM. Planning for embolic treatment was possible with 3D reconstructed images.[56]
  • Pulse oximetry: Orthodeoxia may be detected in patients with pulmonary AVM because of increased shunting of blood through lesions in inferior areas of the lung.[57]
    • Oximetry is performed with the patient standing and supine for 10 minutes in each position.
    • An oxygen saturation level of less than 96% in either position has been considered to indicate further testing.
    • Screening for pulmonary AVM using pulse oximetry in conjunction with chest radiography has been recommended to be performed once in childhood, once after puberty, before pregnancy, and at 10-year intervals thereafter.[58]
  • Additional shunt studies: Arterial blood gas examination can also be used as a screening test for pulmonary AVM. Technetium Tc 99m–tagged albumin microspheres have also been used for shunt detection.[59]
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Diagnostic Procedures

  • Endoscopy and push enteroscopy: Upper and lower GI endoscopy may reveal telangiectases or AVMs. Push enteroscopy allows visualization of proximal small bowel distal to the ligament of Treitz, although this or further intubation of the jejunum is technically demanding. Similarly, a skilled endoscopist can use a colonoscope placed proximal to the ileocecal valve to examine the distal ileum. Visualizing the entire small bowel with push enteroscopy is possible; however, general anesthesia and intraperitoneal access (laparotomy or laparoscopy) is needed to manipulate and thread the small bowel over the endoscope, which has been inserted via the mouth or rectum.
  • Capsule endoscopy: This innovative relatively recent tool is useful in the evaluation of occult GI bleeding of small bowel origin. Telangiectases from HHT can be visualized with this approach.[60] Using the capsule for diagnosis in a series of 18 patients, investigators noted small bowel involvement in patients with known gastric telangiectases in 56% of patients.[61]
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Histologic Findings

Telangiectases manifest as focal dilatation of the postcapillary venules. Early lesions maintain a portion of intervening capillary bed. Perivascular lymphocytic infiltrate is observed. Fully developed lesions lack an intervening capillary bed. Markedly dilated arterioles and venules connect directly in a tortuous network. The mature lesion also shows lymphocytic infiltrate, as well as multiple layers of thickened smooth-muscle cells around connecting venules.[62]

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Contributor Information and Disclosures
Author

Perry A Soriano, MD  Staff Surgical Oncologist, Division of General Surgery, The Everett Clinic

Perry A Soriano, MD is a member of the following medical societies: American College of Surgeons, Massachusetts Medical Society, Pancreas Club, and Society of Surgical Oncology

Disclosure: Nothing to disclose.

Coauthor(s)

James Petros, MD  Associate Professor of Surgery, Program Director, Surgical Residency Program, Department of Surgery, Boston University School of Medicine

James Petros, MD is a member of the following medical societies: American Medical Association, American Society of Colon and Rectal Surgeons, Massachusetts Medical Society, and Society of Surgical Oncology

Disclosure: Nothing to disclose.

James F McKinsey, MD, FACS  Associate Professor of Clinical Surgery, Columbia University College of Physicians and Surgeons; Site Chief, Department of Surgery, Division of Vascular Surgery, Columbia University Medical Center

James F McKinsey, MD, FACS is a member of the following medical societies: Alpha Omega Alpha and Association for Academic Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

William H Pearce, MD  Chief, Division of Vascular Surgery, Violet and Charles Baldwin Professor of Vascular Surgery, Department of Surgery, Northwestern University School of Medicine

William H Pearce, MD is a member of the following medical societies: American College of Surgeons, American Heart Association, American Surgical Association, Association for Academic Surgery, Association of VA Surgeons, Central Surgical Association, New York Academy of Sciences, Society for Vascular Surgery, Society of Critical Care Medicine, Society of University Surgeons, and Western Surgical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Vincent Lopez Rowe, MD  Associate Professor of Surgery, Department of Surgery, Division of Vascular Surgery, University of Southern California Medical Center

Vincent Lopez Rowe, MD is a member of the following medical societies: American College of Surgeons, Association for Academic Surgery, Peripheral Vascular Surgery Society, Society for Clinical Vascular Surgery, and Society for Vascular Surgery

Disclosure: Nothing to disclose.

Chief Editor

William H Pearce, MD  Chief, Division of Vascular Surgery, Violet and Charles Baldwin Professor of Vascular Surgery, Department of Surgery, Northwestern University School of Medicine

William H Pearce, MD is a member of the following medical societies: American College of Surgeons, American Heart Association, American Surgical Association, Association for Academic Surgery, Association of VA Surgeons, Central Surgical Association, New York Academy of Sciences, Society for Vascular Surgery, Society of Critical Care Medicine, Society of University Surgeons, and Western Surgical Association

Disclosure: Nothing to disclose.

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Typical symptoms in a patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the cheeks.
Close-up view of typical symptoms of patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the lips.
Close-up view of typical symptoms in a patient with Osler-Weber-Rendu syndrome with red nodules and starry telangiectasia on the cheeks.
 
 
 
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