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BMC Blood Disorders

, 12:1

First Online: 17 March 2012Received: 10 January 2012Accepted: 17 March 2012


BackgroundWe report a patient with cytogenetically confirmed Fanconi anaemia with associated diffuse bilateral pulmonary arterio-venous fistulae. This is only the second reported case of diffuse pulmonary arterio-venous fistulae with Fanconi anaemia.

Case PresentationA 16 year old Sri Lankan boy, with a cytogenetically confirmed Fanconi anaemia was admitted to University Medical Unit, National Hospital of Sri Lanka for further assessment and treatment. Both central and peripheral cyanosis plus clubbing were noted on examination. The peripheral saturation was persistently low on room air and did not improve with supplementary Oxygen. Contrast echocardiography failed to demonstrate an intra cardiac shunt but showed early crossover of contrast, suggesting the possibility of pulmonary arterio-venous fistulae. Computed tomography pulmonary angiogram was inconclusive. Subsequent right heart catheterisation revealed bilateral diffuse arterio-venous fistulae not amenable for device closure or surgical intervention.

ConclusionTo our knowledge, this is the second reported patient with diffuse pulmonary arterio-venous fistulae associated with Fanconi anaemia. We report this case to create awareness among clinicians regarding this elusive association. We recommend screening patients with Fanconi anaemia using contrast echocardiography at the time of assessment with transthoracic echocardiogram. Though universal screening may be impossible given the cost constraints, such screening should at least be performed in patients with clinical evidence of desaturation or when a therapeutic option such as haematopoietic stem cell transplantation is considered. Treatment of pulmonary arteriovenous fistulae would improve patient outcome as desaturation by shunting worsens the anaemic symptoms by reducing the oxygen carrying capacity of blood.

KeywordsFanconi anaemia Associations Pulmonary arterio venous fistulae Transthoracic echocardiogram Contrast echocardiography Right heart catheterisation AbbreviationsFAFanconi anaemia

AMLAcute myeloid leukemia

AV fistulaArterio venous fistula

UMUUniversity medical unit

TTETrans thoracic echocardiogram

CTPAComputed tomography pulmonary angiogram

HRCTHigh resolution computed tomography

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Autor: Lasitha Samarakoon - Nuwan Ranawaka - Chaturaka Rodrigo - Godwin R Constantine - Lalindra Goonarathne


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