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]

  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]

  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]

• 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

  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]

  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]

  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 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]

  Accompanied by nausea and vomiting, the pain was excruciating. It started in his stomach, moved to his back, then to his chest. The attacks came every few weeks, without warning. [articles.chicagotribune.com]

• 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]

Antioxidant treatment led to a significant reduction (p CONCLUSIONS: Oxidative stress may be one of the principle contributors to pain in hereditary pancreatitis and orally administered antioxidant treatment appears to be effective for control of the [ncbi.nlm.nih.gov]

Management and treatment Mainstays of medical management involve pain control, nutritional support, treatment for diabetes mellitus, and pancreatic enzyme supple mentation for exocrine insufficiency. [orpha.net]

Prognosis The prognosis of patients with HCP is unpredictable with an increased risk of development of pancreatic carcinoma. The documents contained in this web site are presented for information purposes only. [orpha.net]

Genetic testing thus helps to predict the prognosis of the pancreatitis. [ncbi.nlm.nih.gov]

“Prognosis in acute pancreatitis”. CMAJ. vol. 183. 2011. pp. 673-677. Buchler, MW. “A proposal for a new clinical classification of chronic pancreatitis”. BMC Gastroenterology. vol. 9. 2009. pp. 93 Papachristou, GI. [clinicaladvisor.com]

Lowenfels AB, Maisonneuve P, Cavallini G, Ammann RW, Lankisch PG, Andersen JR, DiMagno EP, Andren-Sandberg A, Domellof L, and the International Pancreatitis Study Group: Prognosis of chronic pancreatitis: An international multicenter study. [doi.org]

Predisposing etiological factors were not recognized. During the ensuing years she had recurrent episodes of abdominal pain and chronic pancreatitis with extensive pancreatic calcifications was finally demonstrated. [ncbi.nlm.nih.gov]

The aims of this study were to assess genetic, epidemiological, clinical and morphological characteristics of HP in an extensive national survey. [ncbi.nlm.nih.gov]

Summary Epidemiology The estimated prevalence of hereditary pancreatitis is approximately 1/300,000 people in Europe ranging from 1/800,000 to 1/330,000. (1/800,000 in Germany, 0.3/100,000 in France and 0.57/100,000 in Denmark). [orpha.net]

Some patients may choose to have their pancreas surgically removed to prevent pancreatic cancer from developing in the future.The epidemiology of HP follows a similar pattern to alcohol-associated chronic pancreatitis, but there are important differences [en.wikipedia.org]

With graduate training in physiology and modeling complex conditions, he has become a pioneer in the integrated use of mathematics, genetics, neurosciences, immunology, epidemiology and clinical sciences to study complex inflammation disorders and cancer [gastro.org]

Knowledge of the pathophysiological conditions leading to acute and chronic pancreatitis and the development of a transgenic mouse expressing the mutant human trypsinogen genes will provide directions and tools necessary for the effective treatment or [ncbi.nlm.nih.gov]

Whitcomb, Epidemiology and pathophysiology: genetic insights into pathogenesis, Pancreatitis, (126-142), (2017). [doi.org]

Furthermore, study of this disorder promises additional insights into the pathophysiology of human pancreatitis, new strategies for developing animal models of disease, and new therapies to treat or prevent acute and chronic pancreatitis. [gut.bmj.com]

Knowledge of the pathophysiological conditions leading to acute and chronic pancreatitis and the development of a transgenic mouse expressing the mutant human trypsinogen genes will provide directions and tools necessary for the effective treatment or prevention [ncbi.nlm.nih.gov]

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