%0 Journal Article
%T Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn¡¯s Disease Phenotype
%A Atsushi Sakuraba
%A David T. Rubin
%A M. Anthony Sofia
%J Archive of "ACG Case Reports Journal".
%D 2017
%R 10.14309/crj.2017.14
%X Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn¡¯s disease. We present two cases of HPS-associated Crohn¡¯s disease phenotype in which the patients were refractory to standard medical management. The pathophysiology of HPS is mediated by single-gene defects that alter endosome trafficking, and we hypothesize that this mechanism leads to the observed association with a CD phenotype
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5247631/