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

Updated: Oct 06, 2020
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD  more...
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Answer

In one study, 36% of patients with a solitary pulmonary AVM had HHT. [57] With multiple lesions, the rate of HHT was 57%. Overall, as many as 60% of patients with pulmonary AVM have HHT. Conversely, a 20% incidence of pulmonary AVM can be expected in patients with HHT. ENG mutations of HHT type 1 are associated with a 30% incidence of pulmonary AVM, compared with 3% for HHT type 2 ALK1 mutations. [57]

In a French study of HHT patients with pulmonary AVMs, which included 79 women and 47 men, the AVM was diagnosed at a mean age of 43±17 years. [58] AVM was detected on screening in 29% of patients, incidentally detected by imaging in 15%, detected secondary to dyspnea in 22%, and detected secondary to CNS symptoms in 13%.

In this study, dyspnea on exertion was present in 56% of patients. [58] Thirteen cases of cerebral abscess were found, of which 54% were found concurrently with the diagnosis of HHT and the detection of pulmonary AVM. Eighty-three percent underwent treatment for their AVMs, 23% by surgical resection and 71% via embolization.


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