S1618 The Need for Vigilance: A Rare Association of Pancreatic Atrophy With Hermansky-Pudlak Syndrome

Abstract

Introduction: Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder, which is characterized by oculocutaneous albinism, bleeding disorder, and immunodefiecencies. HPS can involve multiple organs of the body and can cause serious complications in the later part of the disease. Major complications associated with this genetic disorder are granulomatous colitis and pulmonary fibrosis. Here in, we report a case of a young male with classic symptoms of HPS with renal, pulmonary, and pancreatic complications. Case Description/Methods: A 32-year-old man presented with a dry cough and shortness of breath. On clinical examination, he was in respiratory distress with diffuse bilateral inspiratory crackles. Hypopigmentation of hair and skin, clubbing in all fingers, were evident. The eye examination revealed nystagmus of both eyes. Hypo pigmented fundus and hypoplastic fovea were evident on fundoscopic examination. Chest Imaging was suggestive of interstitial lung disease with a restrictive pattern in spirometry. Blood chemistry was significant for elevated blood urea and serum creatinine. On further reviewing of his medical records, we found that his symptoms were ongoing since 15 years with worsening photophobia, decreased vision, recurrent urinary tract and ear infections, respiratory distress and worsening kidney function. Another interesting finding in the CT scan of the abdomen was extrahepatic portal hypertension and atrophy of the body and tail of the pancreas. He was diagnosed with HPS based on the above findings. Discussion: Pathogenesis of HPS can be attributed to mutations in the genes responsible for lysosome-related organelle(LRO) function in melanocytes and platelets, leading to albinism and bleeding disorder respectively. Besides typical clinical features of HPS with respiratory and renal complications, our patient also had portal hypertension and atrophy of the head and neck of the pancreas. As per our literature review, ours is the first case reporting pancreatic involvement in HPS. The mechanism behind pancreatic atrophy is unknown. A possible explanation can be the accumulation of ceroid lipofuscin, an amorphous lipid-protein complex, in the biliary or pancreatic duct or within the pancreatic parenchyma, which could cause pancreatic atrophy in the same way as ceroid lipofuscin causing pulmonary fibrosis. The purpose of our case report is to emphasize the possibility of unusual complications of HPS to facilitate the timely intervention to halt the progression of complications.