Hereditary pancreatitis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Iqra Qamar M.D.[2]
Overview
Historical Perspective
In 1642, Johannes Wirsung of Padua first described the pancreatic duct and the concept of the pancreas as a secretory organ. In 1952, Comfort and Steinberg , were the first one to identify a genetic background associated with hereditary pancreatitis and they found hereditary pancreatitis in six family members spanning 3 generations. In 1996, a gene for hereditary chronic pancreatitis was mapped to chromosome 7.
Classification
Hereditary pancreatitis may be classified on the basis of mode of inheritance into autosomal dominant, autosomal recessive and hereditary pancreatitis with complex genetics.
Pathophysiology
Causes
Hereditary pancreatitis may be caused by mutation in any one of the following genes PRSS1, SPINK1, CFTR and CTRC gene.
Differentiating Hereditary pancreatitis from Other Diseases
Hereditary pancreatitis needs to be differentiated from other diseases presenting with similar complaints such as abdominal pain, diarrhea and weight loss.
Epidemiology and Demographics
The incidence of hereditary pancreatitis is approximately 3.5–10 per 100,000 individuals in Europe and the USA. In Western countries, the prevalence was found to be 0.3/100 000. Hereditary pancreatitis commonly affects younger age group. The median age at which first diagnosis is made is 19 years. The median age at which the symptoms develop is 10 years.
Risk Factors
Common risk factors in the development of Hereditary pancreatitis include smoking, alcohol consumption, lack of antioxidants, genetic mutations such as increased PRSS1 gene expression and CTRC gene mutations.
Screening
Patients with hereditary pancreatitis should be screened for pancreatic cancer as they are at markedly increased risk of pancreatic cancer.
Natural History, Complications, and Prognosis
The symptoms of hereditary pancreatitis usually develop in the first or second decade of life. Patients with hereditary pancreatitis usually present with recurrent episodes of acute pancreatitis and may develop exocrine and endocrine insufficiency. If left untreated, patients with hereditary pancreatitis may progress to develop pancreatitis, biliary or pancreatic ductal dilatation, jaundice, biliary obstruction, pancreatic duct stone or stricture, pancreatic pseudocysts, and pancreatic cancer. Mortality rate is found to be increased in patients who develop pancreatic cancer.
Diagnosis
Diagnostic Criteria
There are no established criteria for the diagnosis of Hereditary pancreatitis but the diagnosis is usually made on the basis of clinical findings, a typical medical and family history, imaging methods, and pancreatic function tests.
History and Symptoms
Patients with hereditary pancreatitis usually have a positive family history of recurrent acute pancreatitis or chronic pancreatitis occurring in two first degree relatives or three or more second degree relatives, in two or more generations in the absence of precipitating factors after negative work-up for known chronic pancreatitis aetiology. The majority of patients with hereditary pancreatitis are asymptomatic. The most common presentation is recurrent acute pancreatitis.
Physical Examination
Patients with hereditary pancreatitis may assume a characteristic position in an attempt to relieve their abdominal pain such as lying on the left side, flexing the spine, drawing the knees up toward the chest. Patients with steatorrhea or advanced disease may present as loss of subcutaneous fat, temporal wasting and sunken supraclavicular fossa. Skin findings may include jaundice, pallor and bruises.