Caratterizzazione clinica, diagnostica e morfologica di particolari forme di malattie infiammatorie del pancreas: pancreatite associata a mutazioni geniche e pancreatite autoimmune

Introduction: the aim of the studies was to evaluate chronic pancreatitis associated to gene mutations and autoimmune pancreatitis. In chronic pancreatitis associated to gene mutations, the search was addressed to evaluate (1) clinical-morphological evolution and (2) radiological characteristic of pancreatic calcifications compared with chronic pancreatitis negative to genetic tests. In autoimmune pancreatitis, the search was addressed (3) to evaluate clinical aspects and evolution of diffuse and focal forms and (4) to find a serological marker of the disease. Results and conclusions: (1) Radiological, clinical and functional investigation of 34 patients suffering from chronic pancreatitis associated with CFTR, SPINK1 and PRSS1 genes mutations compared with 164 patients with chronic pancreatitis and negative genetic tests. Conclusions: a.The clinical outcome of patients suffering from chronic pancreatitis associated with genes mutations seems to be different from those with negative genetic tests. b.The onset of pancreatic exocrine and endocrine insufficiency seems to be delayed in patients with chronic pancreatitis and gene mutations. c.Alcohol, even in small quantities, and cigarette smoking consumption enhance the onset of pancreatic calcifications in patients with chronic pancreatitis associated with gene mutations. (2)Role of CT in the evaluations of the presence of pancreatic calcifications to distinguish 16 patients suffering from chronic pancreatitis associated with gene mutations from 32 with negative genetic tests. Conclusions: diameter of pancreatic calcifications (>15 mm) and “bull’s eye” aspects are strongly correlated with positive genetic tests. (3) Clinical and radiological characteristic of patients suffering from 87 patients suffering from autoimmune pancreatitis (55 of focal and 32 of diffuse type), followed for a long period of time. Conclusions: a.Focal and diffuse type of the disease are clinically different. b.Ulcerative colitis is the most common autoimmune disease associated with autoimmune pancreatitis. c.Recurrences of the disease are more commonly observed in aged patients, with focal form, in smokers and in patients with elevated serum level of IgG4. d.The onset of exocrine and endocrine pancreatic insufficiency is not related to surgery and seems to be progressive, suggesting that the process is chronic even in the absence of clinical signs. (4) Identification of a serological marker able to discriminate between autoimmune pancreatitis and pancreatic adenocarcinoma. Conclusions: a 7 amminoacids-peptide, that present a homology with a H.pylori protein, was recognized by serum of patients suffering from autoimmune pancreatitis. This peptide is able to discriminate these patients from those suffering from inflammatory and neoplastic pancreatic diseases, particularly from pancreatic adenocarcinoma, and from other autoimmune diseases.