AN INTERESTING CASE OF REFRACTORY IBD - HERMANSKY PUDLAK SYNDROME

Hermansky Pudlak Syndrome is a rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to functional platelet abnormality and systemic complications like IBD and pulmonary fibrosis. Presence of platelet functional abnormality leads to spontaneous rectal bleeding in IBD patients with HPS which makes scoring of disease activity difficult. Patients with HPS also have associated vWF deficiency. Bleeding manifestations in these patients can be successfully addressed with Desmopressin. We report a rare case of this syndrome with Crohns colitis which was successfully treated with Desmopressin and Azathioprine.