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Hereditary pancreatitis(PCTT)

MedGen UID:
116056
Concept ID:
C0238339
Disease or Syndrome
Synonyms: Hereditary chronic pancreatitis; PCTT
SNOMED CT: Hereditary pancreatitis (68072000); Familial chronic pancreatitis (235956004); Hereditary chronic pancreatitis (235956004)
Modes of inheritance:
 
CFTR (7q31.2); CTRC (1p36.21); PRSS1 (7q34); PRSS2 (7q34); SPINK1 (5q32)
 
Monarch Initiative: MONDO:0008185
OMIM®: 167800
Orphanet: ORPHA676

Definition

PRSS1-related hereditary pancreatitis (HP) is characterized by episodes of acute pancreatitis (AP) and recurrent acute pancreatitis (RAP: >1 episode of AP), with frequent progression to chronic pancreatitis (CP). 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. [from GeneReviews]

Additional description

From MedlinePlus Genetics
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 levels of blood glucose, also called blood sugar. 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://medlineplus.gov/genetics/condition/hereditary-pancreatitis

Clinical features

From HPO

Professional guidelines

PubMed

Fu Y, Lucas AL
Gastrointest Endosc Clin N Am 2022 Jan;32(1):27-43. doi: 10.1016/j.giec.2021.08.006. PMID: 34798985
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051

Curated

UK NICE Guideline NG104, Pancreatitis, 2020

Recent clinical studies

Etiology

Klein AP
Nat Rev Gastroenterol Hepatol 2021 Jul;18(7):493-502. Epub 2021 May 17 doi: 10.1038/s41575-021-00457-x. PMID: 34002083Free PMC Article
Aslanian HR, Lee JH, Canto MI
Gastroenterology 2020 Jul;159(1):358-362. Epub 2020 May 19 doi: 10.1053/j.gastro.2020.03.088. PMID: 32416142
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Mayerle J, Sendler M, Hegyi E, Beyer G, Lerch MM, Sahin-Tóth M
Gastroenterology 2019 May;156(7):1951-1968.e1. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.081. PMID: 30660731Free PMC Article

Diagnosis

Klein AP
Nat Rev Gastroenterol Hepatol 2021 Jul;18(7):493-502. Epub 2021 May 17 doi: 10.1038/s41575-021-00457-x. PMID: 34002083Free PMC Article
Aslanian HR, Lee JH, Canto MI
Gastroenterology 2020 Jul;159(1):358-362. Epub 2020 May 19 doi: 10.1053/j.gastro.2020.03.088. PMID: 32416142
Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman EK, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium
Gut 2020 Jan;69(1):7-17. Epub 2019 Oct 31 doi: 10.1136/gutjnl-2019-319352. PMID: 31672839Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
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

Therapy

Gandhi S, de la Fuente J, Murad MH, Majumder S
Clin Transl Gastroenterol 2022 Mar 28;13(3):e00463. doi: 10.14309/ctg.0000000000000463. PMID: 35142721Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Lew D, Afghani E, Pandol S
Dig Dis Sci 2017 Jul;62(7):1702-1712. Epub 2017 May 13 doi: 10.1007/s10620-017-4602-2. PMID: 28501969Free 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
Werlin SL
Curr Opin Pediatr 1998 Oct;10(5):507-11. doi: 10.1097/00008480-199810000-00010. PMID: 9818249

Prognosis

Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Shimosegawa T
Tohoku J Exp Med 2019 Aug;248(4):225-238. doi: 10.1620/tjem.248.225. PMID: 31378749
Mayerle J, Sendler M, Hegyi E, Beyer G, Lerch MM, Sahin-Tóth M
Gastroenterology 2019 May;156(7):1951-1968.e1. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.081. PMID: 30660731Free PMC Article
Barry K
Am Fam Physician 2018 Mar 15;97(6):385-393. PMID: 29671537
Uretsky G, Goldschmiedt M, James K
Am Fam Physician 1999 May 1;59(9):2507-12. PMID: 10323357

Clinical prediction guides

Gukovskaya AS, Lerch MM, Mayerle J, Sendler M, Ji B, Saluja AK, Gorelick FS, Gukovsky I
World J Gastroenterol 2024 Nov 7;30(41):4417-4438. doi: 10.3748/wjg.v30.i41.4417. PMID: 39534420Free PMC Article
Prommer R, Kienbauer M, Kargl S, Schöfl R
Wien Klin Wochenschr 2021 Jul;133(13-14):669-673. Epub 2021 Apr 28 doi: 10.1007/s00508-021-01869-0. PMID: 33909107
Lee B, Adamska JZ, Namkoong H, Bellin MD, Wilhelm J, Szot GL, Louis DM, Davis MM, Pandol SJ, Habtezion A
J Clin Invest 2020 May 1;130(5):2705-2711. doi: 10.1172/JCI134066. PMID: 32053120Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Mayerle J, Sendler M, Hegyi E, Beyer G, Lerch MM, Sahin-Tóth M
Gastroenterology 2019 May;156(7):1951-1968.e1. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.081. PMID: 30660731Free PMC Article

Recent systematic reviews

Gandhi S, de la Fuente J, Murad MH, Majumder S
Clin Transl Gastroenterol 2022 Mar 28;13(3):e00463. doi: 10.14309/ctg.0000000000000463. PMID: 35142721Free PMC Article
Scholten L, Latenstein AE, Aalfs CM, Bruno MJ, Busch OR, Bonsing BA, Koerkamp BG, Molenaar IQ, Ubbink DT, van Hooft JE, Fockens P, Glas J, DeVries JH, Besselink MG; Dutch Pancreatic Cancer Group
United European Gastroenterol J 2020 Oct;8(8):865-877. Epub 2020 Jul 23 doi: 10.1177/2050640620945534. PMID: 32703081Free PMC Article
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
Mekitarian Filho E, Carvalho WB, Silva FD
J Pediatr (Rio J) 2012 Mar-Apr;88(2):101-14. doi: 10.2223/JPED.2163. PMID: 22543443

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