Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia type 1)
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Epidemiology
- inherited disorder
- female:male ratio is 2:1
Pathology
- pulmonary arteriovenous (AV) malformations/fistulas (20%)
- located in lower lobes
- multiple in 1/3 of patients
- diagnosed in 3rd or 4th decade of life
- an artery enters malformation/fistula, a vein leaves it
- pulmonary hypertension & heart failure may occur[6]
- AV malformations in the liver & mucous membranes
- central nervous system angiomas, AV malformations of the brain
Genetics
- autosomal dominant
- may be caused by mutations in the genes for endoglin, SMAD4 & activin receptor-like kinase 1[9]
Clinical manifestations
- telangiectasias
- skin - extremities
- mucosal surfaces
- lip & perioral region
- buccal mucosa
- brain, liver, lung
- similar lesions in the GI tract
- hemorrhage
- upper GI bleed
- hemoptysis is most common presenting symptom
- epistaxis
- dyspnea in 60% of patients
- cyanosis
- clubbing of nails
- a bruit or continuous murmur or site of AV malformation
- symptoms depend on degree of right to left shunt
- headaches or vertigo resulting from AV malformations of the brain
Diagnostic criteria
- recurrent epistaxis
- visceral arteriovenous malformations
- multiple telangiectasias
- first-degree relative with Osler-Weber-Rendu syndrome[6]
* even without a confirmed family history, 3 of criteria make diagnosis
Laboratory
- complete blood count may show anemia, may be iron-deficiency anema
- ENG gene mutation
- see ARUP consult[5]
Diagnostic procedures
- cardiac catheterization
- decreased PaO2
- decreased SaO2
- normal pulmonary artery pressure
- pulmonary hypertension has been noted in some patients[6]
- pulmonary angiography confirms diagnosis
Radiology
- chest X-ray
- AV malformations appear as oval or round homogeneous lesions, a few mm to several cm in size
- computed tomography of thorax
- shows an artery enters malformation/fistula, a vein leaves it
- pulmonary angiography confirms diagnosis
- CT of brain to evaluate for AV malformations
Complications
- paradoxic embolism resulting in CNS symptoms
- hepatic venovenous malformation with portosystemic shunting may result in hepatic encephalopathy[6]
- seizures resulting from AV malformations of the brain
Differential diagnosis
- von Willebrand's disease
- not associated with arteriovenous malformations or headaches
Management
- therapeutic catheter-directed embolization of AV malformation
- surgical resection of AV malformation
More general terms
More specific terms
Additional terms
References
- ↑ Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 300
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 173, 757
- ↑ DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 525
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039
- ↑ 5.0 5.1 ARUP Consult: Hereditary Hemorrhagic Telangiectasia - HHT The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/hereditary-hemorrhagic-telangiectasia
- ↑ 6.0 6.1 6.2 6.3 6.4 Fogerty RL, Greenwald JL, McDermot S Case 7-2017 - A 73-Year-Old Man with Confusion and Recurrent Epistaxis. N Engl J Med 2017; 376:972-980. March 9, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28273029 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMcpc1613462
- ↑ Faughnan ME, Mager JJ, Hetts SW et al Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/32894695 Free article
- ↑ McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011 Jul;13(7):607-16. PMID: https://www.ncbi.nlm.nih.gov/pubmed/21546842 Free article. Review.
- ↑ 9.0 9.1 NEJM Knowledge+ Hematology