A Rare Case of a School Going Girl With SPINK 1 Mutation Presenting as Pancreatitis-Polyarthritis-Panniculitis (PPP) Syndrome

Introduction: Acute pancreatitis can be complicated by extra pancreatic manifestations of the disease. The clinical triad of peripheral cutaneous erythematous nodules, oligo or polyarthritis with intraosseous fat necrosis in the setting of pancreatic disease defines a rare entity called pancreatitis-panniculitis-polyarthritis syndrome. An infrequent complication is that of pancreatic panniculitis – pancreatitis associated fat necrosis in the subcutaneous and visceral fat tissue.The clinical triad of peripheral cutaneous erythematous nodules, oligo or polyarthritis with intraosseous fat necrosis in the setting of pancreatic disease defines a rare entity called pancreatitis-panniculitis-polyarthritis syndrome. We describe the clinical course of a 10 year old girl who presented with abdominal pain, right shoulder swelling and polyarthritis. Case Description/Methods: A 10 year old initially presented to the department of rheumatology with complaints of multiple joint pains and painful right shoulder swelling. With no abdominal symptoms at that time, she was managed on outpatient basis. She presented to us few months later with complaints of typical pancreatic type abdominal pain and worsening of her joint pains and shoulder swelling. Her amylase levels were elevated more than 25 times and lipase more than 40 times. Her CT findings showed features of acute exacerbation of chronic calcific pancreatitis with MRCP confirming the same findings and showing a pancreatic duct dilatation of 7 mm. With no obvious etiology of her pancreatic disease, we preceded with a genetic analysis which showed SPINK 1 mutation at exon 1 and 4. A 2 phase scintigraphy bone scan showed asymmetrical uptake in bilateral small as well as large joints. Shoulder lump biopsy showed features of lobular pancreatitis. After extensive review of literature, we labelled the patient to have PPP syndrome. Discussion: As high level of serum lipase corresponds with extent of extra pancreatic fat tissue necrosis, we discussed treatment options. Since the family was reluctant for surgical intervention, we proceeded with ERCP and deployed a stent in the main pancreatic duct. Her lipase levels improved drastically to less than 3 times post procedure and her joint pains & shoulder swelling settled.