Hereditary pancreatitis history and symptoms: Difference between revisions
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{{Hereditary pancreatitis}} | {{Hereditary pancreatitis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{IQ}} | ||
==Overview== | ==Overview== | ||
The majority of patients with | 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 etiology. The majority of patients with hereditary pancreatitis are asymptomatic. The most common presentation is recurrent [[Acute pancreatitis|acute pancreatitis.]] | ||
==History and Symptoms== | |||
====== Family history: ====== | |||
A positive family history is defined as 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 etiology. | |||
== | ===== Symptoms: ===== | ||
*The majority of patients with | *The majority of patients with hereditary pancreatitis are asymptomatic. | ||
*The most common presentation is recurrent [[acute pancreatitis]].<ref name="pmid15017610">{{cite journal |vauthors=Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhaye M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP |title=Clinical and genetic characteristics of hereditary pancreatitis in Europe |journal=Clin. Gastroenterol. Hepatol. |volume=2 |issue=3 |pages=252–61 |year=2004 |pmid=15017610 |doi= |url=}}</ref><ref name="pmid18755888">{{cite journal |vauthors=Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Le Maréchal C, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P |title=The natural history of hereditary pancreatitis: a national series |journal=Gut |volume=58 |issue=1 |pages=97–103 |year=2009 |pmid=18755888 |doi=10.1136/gut.2008.149179 |url=}}</ref><ref name="pmid9219780">{{cite journal |vauthors=Sossenheimer MJ, Aston CE, Preston RA, Gates LK, Ulrich CD, Martin SP, Zhang Y, Gorry MC, Ehrlich GD, Whitcomb DC |title=Clinical characteristics of hereditary pancreatitis in a large family, based on high-risk haplotype. The Midwest Multicenter Pancreatic Study Group (MMPSG) |journal=Am. J. Gastroenterol. |volume=92 |issue=7 |pages=1113–6 |year=1997 |pmid=9219780 |doi= |url=}}</ref><ref name="pmid10872412">{{cite journal |vauthors=Whitcomb DC |title=Genetic predispositions to acute and chronic pancreatitis |journal=Med. Clin. North Am. |volume=84 |issue=3 |pages=531–47, vii |year=2000 |pmid=10872412 |doi= |url=}}</ref><ref name="pmid671483">{{cite journal |vauthors=Sibert JR |title=Hereditary pancreatitis in England and Wales |journal=J. Med. Genet. |volume=15 |issue=3 |pages=189–201 |year=1978 |pmid=671483 |pmc=1013676 |doi= |url=}}</ref> | |||
*The | * Presentation depends upon dysfunction in any one of the following: | ||
* | ** [[Biliary tract]] obstruction; presenting as [[jaundice]] | ||
=== | ** [[Exocrine]] dysfunction; presenting as [[malabsorption]] | ||
Patients | ** [[Endocrine]] dysfunction; presenting as [[diabetes]] | ||
*[ | Patients with chronic pancreatitis usually present with: | ||
*[ | * Persistent [[abdominal pain]] with episodic flares may or may not be associated with food intake<ref name="pmid6706066">{{cite journal |vauthors=Ammann RW, Akovbiantz A, Largiader F, Schueler G |title=Course and outcome of chronic pancreatitis. Longitudinal study of a mixed medical-surgical series of 245 patients |journal=Gastroenterology |volume=86 |issue=5 Pt 1 |pages=820–8 |year=1984 |pmid=6706066 |doi= |url=}}</ref><ref name="pmid7792289">{{cite journal |vauthors=Lankisch PG, Seidensticker F, Löhr-Happe A, Otto J, Creutzfeldt W |title=The course of pain is the same in alcohol- and nonalcohol-induced chronic pancreatitis |journal=Pancreas |volume=10 |issue=4 |pages=338–41 |year=1995 |pmid=7792289 |doi= |url=}}</ref><ref name="pmid6706079">{{cite journal |vauthors=Warshaw AL |title=Pain in chronic pancreatitis. Patients, patience, and the impatient surgeon |journal=Gastroenterology |volume=86 |issue=5 Pt 1 |pages=987–9 |year=1984 |pmid=6706079 |doi= |url=}}</ref><ref name="pmid7926511">{{cite journal |vauthors=Layer P, Yamamoto H, Kalthoff L, Clain JE, Bakken LJ, DiMagno EP |title=The different courses of early- and late-onset idiopathic and alcoholic chronic pancreatitis |journal=Gastroenterology |volume=107 |issue=5 |pages=1481–7 |year=1994 |pmid=7926511 |doi= |url=}}</ref>. Typical features of pain are: | ||
*[ | ** Located in the [[epigastrium]] | ||
=== | ** Radiating to the back | ||
** May be associated with nausea and [[Nausea and vomiting|vomiting]] | |||
*[ | ** Usually worse 15-30min after meal | ||
*[ | ** Initially it occurs in discrete episodes but later on as the disease progresses, it changes to continuous-like pattern | ||
* [[Steatorrhea]] resulting from [[malabsorption]] of the fats in food (greasy, loose, very bad smelling stools that are difficult to flush away).<ref name="pmid4693931">{{cite journal |vauthors=DiMagno EP, Go VL, Summerskill WH |title=Relations between pancreatic enzyme outputs and malabsorption in severe pancreatic insufficiency |journal=N. Engl. J. Med. |volume=288 |issue=16 |pages=813–5 |year=1973 |pmid=4693931 |doi=10.1056/NEJM197304192881603 |url=}}</ref><ref name="pmid9365465">{{cite journal |vauthors=Mergener K, Baillie J |title=Chronic pancreatitis |journal=Lancet |volume=350 |issue=9088 |pages=1379–85 |year=1997 |pmid=9365465 |doi=10.1016/S0140-6736(97)07332-7 |url=}}</ref><ref name="pmid5547614">{{cite journal |vauthors=Toskes PP, Hansell J, Cerda J, Deren JJ |title=Vitamin B 12 malabsorption in chronic pancreatic insufficiency |journal=N. Engl. J. Med. |volume=284 |issue=12 |pages=627–32 |year=1971 |pmid=5547614 |doi=10.1056/NEJM197103252841202 |url=}}</ref> | |||
*Pancreatic [[diabetes]]<ref name="pmid4693931">{{cite journal |vauthors=DiMagno EP, Go VL, Summerskill WH |title=Relations between pancreatic enzyme outputs and malabsorption in severe pancreatic insufficiency |journal=N. Engl. J. Med. |volume=288 |issue=16 |pages=813–5 |year=1973 |pmid=4693931 |doi=10.1056/NEJM197304192881603 |url=}}</ref><ref name="pmid11054391">{{cite journal |vauthors=Malka D, Hammel P, Sauvanet A, Rufat P, O'Toole D, Bardet P, Belghiti J, Bernades P, Ruszniewski P, Lévy P |title=Risk factors for diabetes mellitus in chronic pancreatitis |journal=Gastroenterology |volume=119 |issue=5 |pages=1324–32 |year=2000 |pmid=11054391 |doi= |url=}}</ref><ref name="pmid9365465">{{cite journal |vauthors=Mergener K, Baillie J |title=Chronic pancreatitis |journal=Lancet |volume=350 |issue=9088 |pages=1379–85 |year=1997 |pmid=9365465 |doi=10.1016/S0140-6736(97)07332-7 |url=}}</ref> | |||
*[[Nausea]] | |||
* [[Weight loss]] | |||
===Less Common Symptoms=== | ===Less Common Symptoms=== | ||
Less common symptoms of | Less common symptoms of hereditary pancreatitis include | ||
*[ | * [[Pseudocyst]]<ref name="pmid21757968">{{cite journal |vauthors=Cui Y, Andersen DK |title=Pancreatogenic diabetes: special considerations for management |journal=Pancreatology |volume=11 |issue=3 |pages=279–94 |year=2011 |pmid=21757968 |doi=10.1159/000329188 |url=}}</ref> | ||
*[ | * [[Pancreatic cancer]]<ref name="pmid15017610">{{cite journal |vauthors=Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhaye M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP |title=Clinical and genetic characteristics of hereditary pancreatitis in Europe |journal=Clin. Gastroenterol. Hepatol. |volume=2 |issue=3 |pages=252–61 |year=2004 |pmid=15017610 |doi= |url=}}</ref><ref name="pmid18755888">{{cite journal |vauthors=Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Le Maréchal C, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P |title=The natural history of hereditary pancreatitis: a national series |journal=Gut |volume=58 |issue=1 |pages=97–103 |year=2009 |pmid=18755888 |doi=10.1136/gut.2008.149179 |url=}}</ref><ref name="pmid9091646">{{cite journal |vauthors=Lowenfels AB, Maisonneuve P, DiMagno EP, Elitsur Y, Gates LK, Perrault J, Whitcomb DC |title=Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group |journal=J. Natl. Cancer Inst. |volume=89 |issue=6 |pages=442–6 |year=1997 |pmid=9091646 |doi= |url=}}</ref><ref name="pmid10415865">{{cite journal |vauthors=Whitcomb DC, Applebaum S, Martin SP |title=Hereditary pancreatitis and pancreatic carcinoma |journal=Ann. N. Y. Acad. Sci. |volume=880 |issue= |pages=201–9 |year=1999 |pmid=10415865 |doi= |url=}}</ref> | ||
==References== | ==References== |
Latest revision as of 15:23, 31 January 2018
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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
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 etiology. The majority of patients with hereditary pancreatitis are asymptomatic. The most common presentation is recurrent acute pancreatitis.
History and Symptoms
Family history:
A positive family history is defined as 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 etiology.
Symptoms:
- The majority of patients with hereditary pancreatitis are asymptomatic.
- The most common presentation is recurrent acute pancreatitis.[1][2][3][4][5]
- Presentation depends upon dysfunction in any one of the following:
- Biliary tract obstruction; presenting as jaundice
- Exocrine dysfunction; presenting as malabsorption
- Endocrine dysfunction; presenting as diabetes
Patients with chronic pancreatitis usually present with:
- Persistent abdominal pain with episodic flares may or may not be associated with food intake[6][7][8][9]. Typical features of pain are:
- Located in the epigastrium
- Radiating to the back
- May be associated with nausea and vomiting
- Usually worse 15-30min after meal
- Initially it occurs in discrete episodes but later on as the disease progresses, it changes to continuous-like pattern
- Steatorrhea resulting from malabsorption of the fats in food (greasy, loose, very bad smelling stools that are difficult to flush away).[10][11][12]
- Pancreatic diabetes[10][13][11]
- Nausea
- Weight loss
Less Common Symptoms
Less common symptoms of hereditary pancreatitis include
References
- ↑ 1.0 1.1 Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhaye M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP (2004). "Clinical and genetic characteristics of hereditary pancreatitis in Europe". Clin. Gastroenterol. Hepatol. 2 (3): 252–61. PMID 15017610.
- ↑ 2.0 2.1 Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Le Maréchal C, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P (2009). "The natural history of hereditary pancreatitis: a national series". Gut. 58 (1): 97–103. doi:10.1136/gut.2008.149179. PMID 18755888.
- ↑ Sossenheimer MJ, Aston CE, Preston RA, Gates LK, Ulrich CD, Martin SP, Zhang Y, Gorry MC, Ehrlich GD, Whitcomb DC (1997). "Clinical characteristics of hereditary pancreatitis in a large family, based on high-risk haplotype. The Midwest Multicenter Pancreatic Study Group (MMPSG)". Am. J. Gastroenterol. 92 (7): 1113–6. PMID 9219780.
- ↑ Whitcomb DC (2000). "Genetic predispositions to acute and chronic pancreatitis". Med. Clin. North Am. 84 (3): 531–47, vii. PMID 10872412.
- ↑ Sibert JR (1978). "Hereditary pancreatitis in England and Wales". J. Med. Genet. 15 (3): 189–201. PMC 1013676. PMID 671483.
- ↑ Ammann RW, Akovbiantz A, Largiader F, Schueler G (1984). "Course and outcome of chronic pancreatitis. Longitudinal study of a mixed medical-surgical series of 245 patients". Gastroenterology. 86 (5 Pt 1): 820–8. PMID 6706066.
- ↑ Lankisch PG, Seidensticker F, Löhr-Happe A, Otto J, Creutzfeldt W (1995). "The course of pain is the same in alcohol- and nonalcohol-induced chronic pancreatitis". Pancreas. 10 (4): 338–41. PMID 7792289.
- ↑ Warshaw AL (1984). "Pain in chronic pancreatitis. Patients, patience, and the impatient surgeon". Gastroenterology. 86 (5 Pt 1): 987–9. PMID 6706079.
- ↑ Layer P, Yamamoto H, Kalthoff L, Clain JE, Bakken LJ, DiMagno EP (1994). "The different courses of early- and late-onset idiopathic and alcoholic chronic pancreatitis". Gastroenterology. 107 (5): 1481–7. PMID 7926511.
- ↑ 10.0 10.1 DiMagno EP, Go VL, Summerskill WH (1973). "Relations between pancreatic enzyme outputs and malabsorption in severe pancreatic insufficiency". N. Engl. J. Med. 288 (16): 813–5. doi:10.1056/NEJM197304192881603. PMID 4693931.
- ↑ 11.0 11.1 Mergener K, Baillie J (1997). "Chronic pancreatitis". Lancet. 350 (9088): 1379–85. doi:10.1016/S0140-6736(97)07332-7. PMID 9365465.
- ↑ Toskes PP, Hansell J, Cerda J, Deren JJ (1971). "Vitamin B 12 malabsorption in chronic pancreatic insufficiency". N. Engl. J. Med. 284 (12): 627–32. doi:10.1056/NEJM197103252841202. PMID 5547614.
- ↑ Malka D, Hammel P, Sauvanet A, Rufat P, O'Toole D, Bardet P, Belghiti J, Bernades P, Ruszniewski P, Lévy P (2000). "Risk factors for diabetes mellitus in chronic pancreatitis". Gastroenterology. 119 (5): 1324–32. PMID 11054391.
- ↑ Cui Y, Andersen DK (2011). "Pancreatogenic diabetes: special considerations for management". Pancreatology. 11 (3): 279–94. doi:10.1159/000329188. PMID 21757968.
- ↑ Lowenfels AB, Maisonneuve P, DiMagno EP, Elitsur Y, Gates LK, Perrault J, Whitcomb DC (1997). "Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group". J. Natl. Cancer Inst. 89 (6): 442–6. PMID 9091646.
- ↑ Whitcomb DC, Applebaum S, Martin SP (1999). "Hereditary pancreatitis and pancreatic carcinoma". Ann. N. Y. Acad. Sci. 880: 201–9. PMID 10415865.