Unusual facial vascular malformation in a patient with hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease) – potential association with hypoxia due to embolization?

Introduction Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited disease with typical telangiectases of the skin and mucous membranes, vascular malformations of lungs, liver and brain. Vascular malformations of other locations have been described, however, are rare.

Methods Retrospective case report of a patient.

Results A male patient was treated 14 times within 11 years by embolization for recurrent nosebleeds. He noticed an increasing pulsation of the face over the years. Epistaxis recurred despite of the embolizations and sometimes was life-threatening. Imaging studies showed an extensive vascular malformation of the facial soft tissue.

Discussion and Conclusion To our knowledge is this the first case report of an extensive facial vascular malformation in HHT. Its therapeutic management was challenging. According to a hypothesis embolizations in cerebral arteriovenous malformations can induce the release of growth factors. A similar mechanism might have triggered the growth of the vascular anomaly in this patient. In the literature the effect of embolizations for epistaxis in HHT has been described to be only temporary. The potential induction of a growth of the vascular anomalies by embolization should be taken into consideration when discussing the therapeutic options for nosebleeds in HHT.

Poster-PDF A-1610.pdf

Conflict of interest

Der Erstautor gibt keinen Interessenskonflikt an.

Publication History

Article published online:
13 May 2021