Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

Abstract

Pulmonary arteriovenous malformations (PAVMs) associated with hereditary hemorrhagic telangiectasia may cause severe cerebral complications that may be prevented by embolization therapy. We retrospectively compared the diagnostic value of noninvasive tests for the screening of treatable (amenable to embolization) PAVMs in a series of 105 patients, using chest computerized tomography (CT) and/or pulmonary angiography as a "gold standard." Patients had assessment of dyspnea, chest radiograph, alveolar-arterial PO2 gradient under 100% oxygen (AaPO2), contrast echocardiography, and radionuclide perfusion lung scanning. Contrast echocardiography in the supine position was the most sensitive test (93%). The sensitivity of self-reported dyspnea (59%), chest radiograph alone (70%), measurement of AaPO2 by the 100% oxygen method (62%), or radionuclide lung scanning (71%), was not suitable for efficient screening. A 100% sensitivity and negative predictive value could be obtained when combining anteroposterior chest radiograph and contrast echocardiography. Our data support a screening algorithm based on the combined use of contrast echocardiography and anteroposterior chest radiograph, followed by chest CT if either test is positive. An alternative is to screen directly by chest CT. However, this algorithm may obviate the need for chest CT in patients without PAVM, who represent a majority of patients with hereditary hemorrhagic telangiectasia.

Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia

“…1 Increased frequency occurs in certain populations, including those of Ain (France), Vermont (USA), and Afro-Caribbean populations in the Netherlands Antilles region. 2 Sufferers may be asymptomatic, but 90% of people have signs or symptoms by the age of 40. Symptoms range from mild epistaxis to life-threatening hemorrhage or high output cardiac failure secondary to arteriovenous shunting.…”

“…2 Both encode receptor proteins in the transforming growth factor b (TGF-b) superfamily (which is involved in cell proliferation, differentiation, adhesion, and migration) and are highly expressed on vascular endothelial cells. 1 At least one other gene is thought to be involved.…”

“…16 Pulmonary AVMs are usually multiple in the HHT patient; they may not be clinically evident and are often small and easily missed on routine radiographic examination. 17 Presenting symptoms may include chest pain and dyspnea, but the majority of patients are asymptomatic.…”

“…Pulmonary hypertension may be secondary to the increased cardiac output occurring with systemic AVMs or intrinsic to the pulmonary vasculature; however, it is rarely severe. 2 …”

Post-NICE 2008: antibiotic prophylaxis prior to dental procedures for patients with pulmonary arteriovenous malformations (PAVMs) and hereditary haemorrhagic telangiectasia

“…Screening programmes in asymptomatic individuals indicate that PAVMs affect almost 50% of HHT patients. 6 For patients with PAVMs and HHT, there is a link between oral bacteria and PAVM-associated brain abscess. Antibiotic prophylaxis has been recommended for them based on the endocarditis paradigm, 7 with the British Society for Antimicrobial Chemotherapy and Dental Formulary Sub-Committee approving a PAVM-specifi c card in 2000 (Fig.…”