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Hereditary pancreatitis(PCTT)

MedGen UID:
116056
Concept ID:
C0238339
Disease or Syndrome
Synonyms: CFTR-Related Hereditary Pancreatitis; CTRC-Related Hereditary Pancreatitis ; Hereditary chronic pancreatitis; PANCREATITIS, CHRONIC; PCTT; PRSS1-Related Hereditary Pancreatitis; SPINK1-Related Hereditary Pancreatitis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary pancreatitis (68072000); Familial chronic pancreatitis (235956004); Hereditary chronic pancreatitis (235956004)
 
Genes (locations): CFTR (7q31.2); CTRC (1p36.21); PRSS1 (7q34); PRSS2 (7q34); SPINK1 (5q32)
OMIM®: 167800
Orphanet: ORPHA676

Definition

A disorder characterized by recurrent episodes of pancreatitis that start at a young age. It is caused by mutations in the PRSS1 or SPINK1 genes. Patients are at a high risk of developing pancreatic carcinoma. [from NCI]

Additional descriptions

From GeneReviews
PRSS1-related hereditary pancreatitis (HP) is characterized by inflammation of the pancreas that progresses from acute (sudden onset; duration <6 months) to recurrent acute (>1 episode of acute pancreatitis) to chronic (duration >6 months). The range of symptoms and disease course vary from person to person. On average, acute pancreatitis occurs by age ten years and chronic pancreatitis by age 20 years. Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization. Chronic pancreatitis typically manifests as episodic or continuous mild to severe abdominal pain, exocrine pancreatic insufficiency leading to maldigestion, and pancreatic endocrine insufficiency (glucose intolerance progressing to type I diabetes mellitus). The risk for pancreatic cancer increases after age 50 years.  https://www.ncbi.nlm.nih.gov/books/NBK84399
From NCBI curation
PRSS1-related hereditary pancreatitis (HP) is characterized by inflammation of the pancreas that progresses from acute (sudden onset; duration <6 months) to recurrent acute (>1 episode of acute pancreatitis) to chronic (duration >6 months). The range of symptoms and disease course vary from person to person. On average, acute pancreatitis occurs by age ten years and chronic pancreatitis by age 20 years. Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization. Chronic pancreatitis typically manifests as episodic or continuous mild to severe abdominal pain, exocrine pancreatic insufficiency leading to maldigestion, and pancreatic endocrine insufficiency (glucose intolerance progressing to type I diabetes mellitus). The risk for pancreatic cancer increases after age 50 years.
From GHR
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. 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. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood.Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age.Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood.Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.  https://ghr.nlm.nih.gov/condition/hereditary-pancreatitis

Clinical features

Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Exocrine pancreatic insufficiency
MedGen UID:
45295
Concept ID:
C0030293
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Pancreatic pseudocyst
MedGen UID:
18280
Concept ID:
C0030299
Disease or Syndrome
Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS.
Pancreatitis
MedGen UID:
14586
Concept ID:
C0030305
Disease or Syndrome
INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.
Pancreatic calcification
MedGen UID:
330843
Concept ID:
C1842406
Finding
The presence of abnormal calcium deposition lesions in the pancreas.
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Abnormal thrombosis
MedGen UID:
505035
Concept ID:
CN001789
Finding
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Disease or Syndrome
Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma.
Pancreatitis
MedGen UID:
14586
Concept ID:
C0030305
Disease or Syndrome
INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
A condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production.
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Disease or Syndrome
Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma.
Pancreatic calcification
MedGen UID:
330843
Concept ID:
C1842406
Finding
The presence of abnormal calcium deposition lesions in the pancreas.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary pancreatitis

Recent clinical studies

Etiology

Oracz G, Kolodziejczyk E, Sobczynska-Tomaszewska A, Wejnarska K, Dadalski M, Grabarczyk AM, Kierkus J, Woynarowski M, Wertheim-Tysarowska K, Ryzko J, Bal J, Rygiel AM
Pancreatology 2016 Jul-Aug;16(4):535-41. Epub 2016 Apr 26 doi: 10.1016/j.pan.2016.04.009. PMID: 27179762
Nicholson JA, Greenhalf W, Jackson R, Cox TF, Butler JV, Hanna T, Harrison S, Grocock CJ, Halloran CM, Howes NR, Raraty MG, Ghaneh P, Johnstone M, Sarkar S, Smart HL, Evans JC, Aithal GP, Sutton R, Neoptolemos JP, Lombard MG
Pancreas 2015 Mar;44(2):260-5. doi: 10.1097/MPA.0000000000000246. PMID: 25438071
Sun XT, Hu LH, Xia T, Shi LL, Sun C, Du YQ, Wang W, Chen JM, Liao Z, Li ZS
Pancreas 2015 Jan;44(1):59-63. doi: 10.1097/MPA.0000000000000198. PMID: 25058887
LaRusch J, Barmada MM, Solomon S, Whitcomb DC
JOP 2012 May 10;13(3):258-62. PMID: 22572128Free PMC Article
Rebours V, Lévy P, Ruszniewski P
Dig Liver Dis 2012 Jan;44(1):8-15. Epub 2011 Sep 9 doi: 10.1016/j.dld.2011.08.003. PMID: 21907651

Diagnosis

Dai LN, Chen YW, Yan WH, Lu LN, Tao YJ, Cai W
Medicine (Baltimore) 2016 Sep;95(36):e4604. doi: 10.1097/MD.0000000000004604. PMID: 27603351Free PMC Article
Jancsó Z, Sahin-Tóth M
J Biol Chem 2016 Jun 17;291(25):12897-905. Epub 2016 Apr 18 doi: 10.1074/jbc.M116.725374. PMID: 27129265Free PMC Article
Rivera Rivera ED, Chugh A, Cordova J, Young S
Pediatr Ann 2016 Feb;45(2):e50-3. doi: 10.3928/00904481-20160115-01. PMID: 26878183
Kargl S, Kienbauer M, Duba HC, Schöfl R, Pumberger W
J Pediatr Surg 2015 Apr;50(4):511-4. Epub 2014 Jul 28 doi: 10.1016/j.jpedsurg.2014.05.016. PMID: 25840052
Awano H, Lee T, Yagi M, Masamune A, Kume K, Takeshima Y, Iijima K
Pediatr Int 2013 Oct;55(5):646-9. doi: 10.1111/ped.12152. PMID: 24134754

Therapy

Rivera Rivera ED, Chugh A, Cordova J, Young S
Pediatr Ann 2016 Feb;45(2):e50-3. doi: 10.3928/00904481-20160115-01. PMID: 26878183
Nicholson JA, Greenhalf W, Jackson R, Cox TF, Butler JV, Hanna T, Harrison S, Grocock CJ, Halloran CM, Howes NR, Raraty MG, Ghaneh P, Johnstone M, Sarkar S, Smart HL, Evans JC, Aithal GP, Sutton R, Neoptolemos JP, Lombard MG
Pancreas 2015 Mar;44(2):260-5. doi: 10.1097/MPA.0000000000000246. PMID: 25438071
Dever JB, Irani S, Brandabur J, Traverso LW, Kozarek R
J Clin Gastroenterol 2010 Jan;44(1):46-51. doi: 10.1097/01.mcg.0000360462.64261.55. PMID: 19713862
Morinville VD, Lowe ME, Elinoff BD, Whitcomb DC
Pancreas 2007 Nov;35(4):308-12. doi: 10.1097/mpa.0b013e318120023a. PMID: 18090235
Uomo G, Talamini G, Rabitti PG
Dig Liver Dis 2001 Jan-Feb;33(1):58-62. PMID: 11303976

Prognosis

Dai LN, Chen YW, Yan WH, Lu LN, Tao YJ, Cai W
Medicine (Baltimore) 2016 Sep;95(36):e4604. doi: 10.1097/MD.0000000000004604. PMID: 27603351Free PMC Article
Oracz G, Kolodziejczyk E, Sobczynska-Tomaszewska A, Wejnarska K, Dadalski M, Grabarczyk AM, Kierkus J, Woynarowski M, Wertheim-Tysarowska K, Ryzko J, Bal J, Rygiel AM
Pancreatology 2016 Jul-Aug;16(4):535-41. Epub 2016 Apr 26 doi: 10.1016/j.pan.2016.04.009. PMID: 27179762
Nicholson JA, Greenhalf W, Jackson R, Cox TF, Butler JV, Hanna T, Harrison S, Grocock CJ, Halloran CM, Howes NR, Raraty MG, Ghaneh P, Johnstone M, Sarkar S, Smart HL, Evans JC, Aithal GP, Sutton R, Neoptolemos JP, Lombard MG
Pancreas 2015 Mar;44(2):260-5. doi: 10.1097/MPA.0000000000000246. PMID: 25438071
Mastoraki A, Tzortzopoulou A, Tsela S, Danias N, Sakorafas G, Smyrniotis V, Arkadopoulos N
J Gastrointest Cancer 2014 Mar;45(1):22-6. doi: 10.1007/s12029-013-9559-6. PMID: 24242859
LaRusch J, Barmada MM, Solomon S, Whitcomb DC
JOP 2012 May 10;13(3):258-62. PMID: 22572128Free PMC Article

Clinical prediction guides

Jancsó Z, Sahin-Tóth M
J Biol Chem 2016 Jun 17;291(25):12897-905. Epub 2016 Apr 18 doi: 10.1074/jbc.M116.725374. PMID: 27129265Free PMC Article
Dytz MG, Mendes de Melo J, de Castro Santos O, da Silva Santos ID, Rodacki M, Conceição FL, Ortiga-Carvalho TM
Medicine (Baltimore) 2015 Sep;94(37):e1508. doi: 10.1097/MD.0000000000001508. PMID: 26376395Free PMC Article
Nicholson JA, Greenhalf W, Jackson R, Cox TF, Butler JV, Hanna T, Harrison S, Grocock CJ, Halloran CM, Howes NR, Raraty MG, Ghaneh P, Johnstone M, Sarkar S, Smart HL, Evans JC, Aithal GP, Sutton R, Neoptolemos JP, Lombard MG
Pancreas 2015 Mar;44(2):260-5. doi: 10.1097/MPA.0000000000000246. PMID: 25438071
LaRusch J, Barmada MM, Solomon S, Whitcomb DC
JOP 2012 May 10;13(3):258-62. PMID: 22572128Free PMC Article
Szabó A, Sahin-Tóth M
J Biol Chem 2012 Jun 8;287(24):20701-10. Epub 2012 Apr 26 doi: 10.1074/jbc.M112.360065. PMID: 22539344Free PMC Article

Recent systematic reviews

Bruenderman EH, Martin RC 2nd
J Surg Res 2015 Mar;194(1):212-9. Epub 2014 Oct 13 doi: 10.1016/j.jss.2014.06.046. PMID: 25479908Free PMC Article
Bellin MD, Freeman ML, Gelrud A, Slivka A, Clavel A, Humar A, Schwarzenberg SJ, Lowe ME, Rickels MR, Whitcomb DC, Matthews JB; PancreasFest Recommendation Conference Participants., Amann S, Andersen DK, Anderson MA, Baillie J, Block G, Brand R, Chari S, Cook M, Cote GA, Dunn T, Frulloni L, Greer JB, Hollingsworth MA, Kim KM, Larson A, Lerch MM, Lin T, Muniraj T, Robertson RP, Sclair S, Singh S, Stopczynski R, Toledo FG, Wilcox CM, Windsor J, Yadav D
Pancreatology 2014 Jan-Feb;14(1):27-35. Epub 2013 Nov 13 doi: 10.1016/j.pan.2013.10.009. PMID: 24555976Free PMC Article
Mekitarian Filho E, Carvalho WB, Silva FD
J Pediatr (Rio J) 2012 Mar-Apr;88(2):101-14. doi: doi:10.2223/JPED.2163. PMID: 22543443
Raimondi S, Lowenfels AB, Morselli-Labate AM, Maisonneuve P, Pezzilli R
Best Pract Res Clin Gastroenterol 2010 Jun;24(3):349-58. doi: 10.1016/j.bpg.2010.02.007. PMID: 20510834
Kattwinkel J, Lapey A, Di Sant'Agnese PA, Edwards WA
Pediatrics 1973 Jan;51(1):55-69. PMID: 4567584

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