Patients with hereditary pancreatitis usually begin to have recurrent attacks of acute pancreatitis during childhood [1]. It is not uncommon for a majority of adult patients to report having received a diagnosis of "idiopathic pancreatitis" at some point in their lives.

The actual symptoms and signs of hereditary pancreatitis are similar to those seen in other types of pancreatitis (e.g., upper abdominal pain that radiates to the back, abdominal tenderness, maldigestion, nausea, vomiting) [2] [3] [4] [5] [6] [7]. In persons with hereditary pancreatitis, there may be an increased susceptibility to complications of pancreatitis such as maldigestion, fibrosis, chronic pain, ductal and parenchymal calcifications, duct distortion, diabetes mellitus, as well as an increased risk of pancreatic malignancy [8] [9] [10].

Hereditary pancreatitis can be differentiated from other causes of pancreatitis by an early age of onset, a history of idiopathic pancreatitis that onset prior to the second decade of life, a family history of recurrent attacks of pancreatitis, and/or confirmed presence of genetic mutations in genes associated with hereditary pancreatitis [9].

• Fever

  Symptoms may include: abdominal pain nausea vomiting fever These symptoms are acute, meaning they occur suddenly, and may last for several days. Later in life, these acute episodes begin to recur, meaning they begin to happen more frequently. [ddc.musc.edu]

  Other symptoms include fever, chills, weakness, lethargy and foul-smelling stool. Because pain usually worsens after eating, many patients avoid it, resulting in unintentional weight loss and malnutrition. [uknow.uky.edu]

  A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. [ghr.nlm.nih.gov]

  A sudden attack can cause abdominal pain, fever, nausea, or vomiting. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. [genetics.ouhsc.edu]

  Patients may also have associated nausea, vomiting, fever, and an increased heart rate. The symptoms of chronic pancreatitis may include the following: Constant pain that radiates to the back. In some patients, the pain may be disabling. [my.clevelandclinic.org]

• Painter

  Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645–652. [doi.org]

  Sharer N, Schwarz M, Malone G, Howarth A, Painter J, SuperM, et al. Mutations of the cystic fibrosis gene in patients with chronicpancreatitis. New England Journal of Medicine. 1998;339(10):645-52. [pancreas.imedpub.com]

• Turkish

  In a Turkish proband, an arginine (CGT) to cysteine (TGT) substitution at amino acid position 116 was identified. [ncbi.nlm.nih.gov]

• Abdominal Pain

  She presented initially at the age of 18 years with abdominal pain due to acute pancreatitis. Predisposing etiological factors were not recognized. [ncbi.nlm.nih.gov]

• Nausea

  upper abdominal pain that radiates to the back, abdominal tenderness, maldigestion, nausea, vomiting). [symptoma.com]

  Because pain is one of the most difficult issues for children with this disease, medications to control pain and nausea are prescribed. [uknow.uky.edu]

  HP is characterised by attacks of epigastric pain, which are often associated with nausea and vomiting. Symptoms may start shortly after birth but onset varies periodically, with some patients not exhibiting symptoms until adulthood. [en.wikipedia.org]

  Symptoms may include: abdominal pain nausea vomiting fever These symptoms are acute, meaning they occur suddenly, and may last for several days. Later in life, these acute episodes begin to recur, meaning they begin to happen more frequently. [ddc.musc.edu]

  Symptoms include abdominal pain, nausea, and vomiting. Onset of attacks typically occurs between within the first two decades of life, but can begin at any age. [pancreasfoundation.org]

• Epigastric Pain

  Hereditary pancreatitis (HP) is a rare, early-onset genetic disorder characterized by epigastric pain and often more serious complications. [ncbi.nlm.nih.gov]

  Acute pancreatitis (AP) is characterized by two of the following criteria as per the revised Atlanta 2 international consensus: a sudden onset of epigastric pain, elevated lipase (or pancreas-specific amylase) of three times the upper limit of normal [journals.co.za]

  HP is characterised by attacks of epigastric pain, which are often associated with nausea and vomiting. Symptoms may start shortly after birth but onset varies periodically, with some patients not exhibiting symptoms until adulthood. [en.wikipedia.org]

  Abstract Hereditary pancreatitis (HP) is a rare, early-onset genetic disorder characterized by epigastric pain and often more serious complications. [doi.org]

  It presents at a younger age with epigastric pain. [patient.info]

• Recurrent Abdominal Pain

  Abstract A 12-year-old boy presented with recurrent abdominal pain and failure to thrive and was shown to have chronic calcific pancreatitis. [ncbi.nlm.nih.gov]

  Illustrative Case A13-year-old boy presented with recurrent abdominal pain that began at age 2 years. At approximately age 5 years, he was diagnosed with his first episode of documented acute pancreatitis. [healio.com]

  abdominal pain of unknown etiology where the diagnosis of HP is a distinct clinical possibility Chronic pancreatitis of unknown etiology, where the diagnosis of HP is a distinct clinical possibility The committees gave no specific recommendations on [gwumc.edu]

• Chronic Abdominal Pain

  Chronic abdominal pain (periodic or constant) is the main challenge for these patients. Exocrine, and rarely, endocrine dysfunction may develop due to destruction of the gland. [clinicaladvisor.com]

• Pancreatic Pain

  HP was responsible for pancreatic pain (83%), acute pancreatitis (69%), pseudocysts (23%), cholestasis (3%), pancreatic calcifications (61%), exocrine pancreatic insufficiency (34%, median age of occurrence 29 years), diabetes mellitus (26%, median age [ncbi.nlm.nih.gov]

Hereditary pancreatitis is formally defined as idiopathic pancreatitis occurring in at least two family members, over two or more family generations, and/or pancreatitis associated with genetic mutations in PRSS1, CFTR, and/or SPINK1 genes [8]. The diagnosis of hereditary pancreatitis is based on patient's history and his/her family medical history, and genetic testing.

Genetic testing can be used to confirm the diagnosis of hereditary pancreatitis, although not all mutations have been identified [1]. The most common mutations associated with hereditary pancreatitis occur in PRSS1, CFTR, CTRC, and/or SPINK1 genes [11] [12] [13]. Mutations may be present in one of these genes or in multiple genes. Genetic counseling after genetic testing is encouraged. A counselor will be able to facilitate understanding of the disease, discuss the risk of disease, provide interpretation of test results, and discuss future implications and testing of asymptomatic family members [14]. Testing of asymptomatic children and adolescents sixteen years of age or younger is controversial and should be made on a case by case basis, with the guidance of a genetic counselor [11] [12] [14].

Endoscopic retrograde cholangiopancreatography (ERCP) is not required for the diagnosis of hereditary pancreatitis but is useful for visualization of the patient's pancreatobiliary anatomy, surveillance for pancreatic cancer, and for an evaluation of complications associated with chronic pancreatitis [11].

Hereditary pancreatitis has been associated with an increased risk of development of pancreatic malignancy. As such, screening for pancreatic cancer can be performed using endoscopic ultrasound and/or imaging tests such as computed tomography (CT) and magnetic resonance imaging (MRI) [15] [16].

• Pancreatic Calcification

  We demonstrate that pancreatic duct abnormalities, not previously described, are present prior to the appearance of the typical pancreatic calcifications of HP. [ncbi.nlm.nih.gov]

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