Hereditary pancreatitis

Abstract

Hereditary pancreatitis is an autosomal dominant condition, which results in recurrent attacks of acute pancreatitis, progressing to chronic pancreatitis often at a young age. The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene). It has been hypothesised that one of these mutations, the R122H mutation causes pancreatitis by altering a trypsin recognition site so preventing deactivation of trypsin within the pancreas and prolonging its action, resulting in autodigestion. Families with these two mutations have been identified in many countries and there are also other rarer mutations, which have also been linked to hereditary pancreatitis.Patients with hereditary pancreatitis present in the same way as those with sporadic pancreatitis but at an earlier age. It is common for patients to remain undiagnosed for many years, particularly if they present with non-specific symptoms. Hereditary pancreatitis should always be considered in patients who present with recurrent pancreatitis with a family history of pancreatic disease. If patients with the 2 common mutations are compared, those with the R122H mutation are more likely to present at a younger age and are more likely to require surgical intervention than those with N29I. Hereditary pancreatitis carries a 40 % lifetime risk of pancreatic cancer with those patients aged between 50 to 70 being most at risk in whom screening tests may become important.

Pancreatic Divisum: An Unusual Cause of Chronic Pancreatitis in a Young Patient

“…While the patient’s recurrent pancreatitis and progression to chronic pancreatitis is consistent with the congenital nature of hereditary pancreatitis, this condition has autosomal dominant transmission. Since the patient’s mother, father, or sibling denied any pancreatic problems, this diagnosis of hereditary pancreatitis is less likely [ 6 ]. The patient also presented with right upper quadrant tenderness and given her high BMI, the patient was examined for choledocholithiasis.…”

Pancreatic cancer and genetics

“…Cliniquement, la pancréatite héréditaire se traduit par des crises de pancréatites aiguës répétées débutant le plus souvent dans l'enfance et conduisant à long terme à une insuffisance endocrine et exocrine [45,47]. Les patients souffrant d'une pancréatite héréditaire ont un risque environ 53 plus élevé pour le cancer pancréatique après l'âge de 50 ans par rapport à la population générale [48].…”

Prevalence of the N34S mutation of SPINK1 (serine protease inhibitor, Kazal type 1) in patients with chronic pancreatitis and pancreatic cancer

“…Dowiedziono, że po 20 latach trwania PZT ryzyko wystąpienia RT zwiększa się ponad 25-krotnie [14,15]. Ponadto ryzyko rozwoju RT zwiększa się jeszcze bardziej w przypadku dziedzicznej postaci zapalenia, wykazano bowiem, że po kilkudziesięciu latach choroby u 40% pacjentów dochodzi do rozwoju RT [16].…”