Abstract:
Osler Weber Rendu Syndrome (OWS) is characterized by the development
of abnormally dilated blood vessels, which manifest as arteriovenous shunts
(pulmonary, gastrointestinal, hepatic, and cerebral) and mucocutaneous
telangiectasias (lips, tongue, and fingertips). It is an autosomal dominant
disease with a defect in transforming growth factor beta superfamily
genes. This defect results in increased angiogenesis and disruption of
vessel wall integrity. The disease remains underreported, with occasional
history of recurrent epistaxis, iron deficiency anemia, and gastrointestinal
bleeding in moderate to severe cases. Diagnosis is based on clinical
presentation and confirmed by genetic testing. Various local (nasal saline,
air humidification, laser ablation, and electric cauterization for epistaxis and
endoscopic Argon Plasma Coagulation-APC for active GI bleeding), surgical,
and systemic (tranexamic acid and antiangiogenic agents like bevacizumab
and thalidomide) treatment options are used depending upon disease severity.
Here, we present a case with recurrent gastrointestinal bleeding refractory to
endoscopic APC ablation and thalidomide and severe symptomatic anemia
requiring multiple packed red cell transfusions. The patient was ultimately
started on bevacizumab, to which he had a good response and has remained
in remission for 8 months as of now. This case emphasizes the need to have
