Hereditary pancreatitis laboratory findings
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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
Laboratory Findings
- Serum amylase and lipase are usually normal but may be slightly elevated (neither diagnostic nor prognostic).
- Serum bilirubin and alkaline phosphatase levels may be elevated in case of intra-pancreatic biliary duct obstruction.
- The following lab tests are usually normal:
Fecal tests:
(a) Sudan staining of feces:
- A non-specific, qualitative test that is no longer used for the diagnosis of steatorrhea.
(b) 72-hour quantitative fecal fat (Gold standard):
- A quantitaive test that determines fecal fat excretion for over 24hrs.
- Fecal fat excretion of >7g/day is diagnostic of malabsorption.
- Patients with steatorrhea usually have an excretion of >10g of fat per day.
(c) Faecal elastase measurement (Test of choice):
- The most sensitive and specific test for pancreatic exocrine dysfunction.
- It can be done with a single random stool sample.
- The results are independent of pancreatic enzyme replacement therapy.
- A value of less than 200 ug/g indicates pancreatic insufficiency.[1][2][3][4]
Pancreatic function tests:
(a) Direct/ Invasive tests:
- Direct tests are used to assess pancreatic insufficiency in the early course of disease when patient has clinical symptoms but no radiology findings.
- Direct tests involve pancreatic stimulation via meal or hormonal secretagogues and assessment of pancreatic secretions in the duodenal fluid.
- Direct tests along with radiographic findings (pancreatic calcifications) are still considered to be the gold standard for the diagnosis of hereditary pancreatitis.[5][6][7][8]
- The limitation of direct tests is that they are costly and cumbersome.[5][6][7][8]
- Direct tests include:
- Secretin stimulation test
- Pancreozymin-secretin test
- Secretin stimulation test is considered the gold standard functional test for diagnosis of chronic pancreatitis.
- The observation that bicarbonate production is impaired early in chronic hereditary pancreatitis has led to the rationale of use of this test in early stages of disease.
(b) Indirect/ Non-invasive tests:
- Indirect tests are used to assess the complications of chronic hereditary pancreatitis.
- Indirect tests include:
- Faecal chymotrypsin, PABA-, pancreolauryl-
- Faecal elastase test
- Indirect tests are not sensitive to assess pancreatic insufficiency in the early course of disease.[8][10]
Genetic testing :
- Genetic testing and genetic counselling is recommended for patients with hereditary pancreatitis.[11]
- Patients with hereditary pancreatitis who require genetic testing need to be counselled before and after the genetic testing is done.[12][11][13]
- Genetic testing is generally done for the following genes:[14]
- PRSS1
- CFTR
- SPINK1
- CTRC
In Symptomatic patients:
- Patients with any one of the following featires should be considered for genetic testing:[12][15]
- A positive history of unexplained documented episode of pancreatitis in childhood
- Idiopathic chronic pancreatitis before 25yr age
- Family history of any mutations associated with hereditary pancreatitis
- Recurrent acute attacks of pancreatitis of unknown etiology
- A positive family history of any one of the following with an unknown etiology;
- Recurrent acute pancreatitis
- Idiopathic chronic pancreatitis
- Childhood pancreatitis
In Asymptomatic patients (Predictive testing):
- Predictive testing is done only after expert genetic counseling and may be considered for patients who have a first-degree relative with a known PRSS1 mutation.[15][12]
- Predictive testing is not done for patients below 16 yr age.
- Predictive testing is usually not recommended for patients with SPINK1 or CFTR mutations.
References
- ↑ Freedman SD. "Clinical manifestations and diagnosis of chronic pancreatitis in adults". UpToDate.
- ↑ Keim V, Teich N, Moessner J (2003). "Clinical value of a new fecal elastase test for detection of chronic pancreatitis". Clin. Lab. 49 (5–6): 209–15. PMID 15285176.
- ↑ Walkowiak J, Herzig KH, Strzykala K, Przyslawski J, Krawczynski M (2002). "Fecal elastase-1 is superior to fecal chymotrypsin in the assessment of pancreatic involvement in cystic fibrosis". Pediatrics. 110 (1 Pt 1): e7. PMID 12093988.
- ↑ Borowitz D, Baker SS, Duffy L, Baker RD, Fitzpatrick L, Gyamfi J, Jarembek K (2004). "Use of fecal elastase-1 to classify pancreatic status in patients with cystic fibrosis". J. Pediatr. 145 (3): 322–6. doi:10.1016/j.jpeds.2004.04.049. PMID 15343184.
- ↑ 5.0 5.1 Boeck WG, Adler G, Gress TM (2001). "Pancreatic function tests: when to choose, what to use". Curr Gastroenterol Rep. 3 (2): 95–100. PMID 11276375.
- ↑ 6.0 6.1 Chowdhury RS, Forsmark CE (2003). "Review article: Pancreatic function testing". Aliment. Pharmacol. Ther. 17 (6): 733–50. PMID 12641496.
- ↑ 7.0 7.1 Siegmund E, Löhr JM, Schuff-Werner P (2004). "[The diagnostic validity of non-invasive pancreatic function tests--a meta-analysis]". Z Gastroenterol (in German). 42 (10): 1117–28. doi:10.1055/s-2004-813604. PMID 15508057.
- ↑ 8.0 8.1 8.2 Ammann RW (2006). "Diagnosis and management of chronic pancreatitis: current knowledge". Swiss Med Wkly. 136 (11–12): 166–74. doi:2006/11/smw-11182 Check
|doi=value (help). PMID 16633964. - ↑ 9.0 9.1 Ketwaroo G, Brown A, Young B, Kheraj R, Sawhney M, Mortele KJ, Najarian R, Tewani S, Dasilva D, Freedman S, Sheth S (2013). "Defining the accuracy of secretin pancreatic function testing in patients with suspected early chronic pancreatitis". Am. J. Gastroenterol. 108 (8): 1360–6. doi:10.1038/ajg.2013.148. PMC 5388854. PMID 23711627.
- ↑ Etemad B, Whitcomb DC (2001). "Chronic pancreatitis: diagnosis, classification, and new genetic developments". Gastroenterology. 120 (3): 682–707. PMID 11179244.
- ↑ 11.0 11.1 Kumar A, Ajilore O, Zhang A, Pham D, Elderkin-Thompson V (2014). "Cortical thinning in patients with late-life minor depression". Am J Geriatr Psychiatry. 22 (5): 459–64. doi:10.1016/j.jagp.2012.12.010. PMC 4497565. PMID 24636843.
- ↑ 12.0 12.1 12.2 Fink EN, Kant JA, Whitcomb DC (2007). "Genetic counseling for nonsyndromic pancreatitis". Gastroenterol. Clin. North Am. 36 (2): 325–33, ix. doi:10.1016/j.gtc.2007.03.007. PMID 17533082.
- ↑ Solomon S, Whitcomb DC (2012). "Genetics of pancreatitis: an update for clinicians and genetic counselors". Curr Gastroenterol Rep. 14 (2): 112–7. doi:10.1007/s11894-012-0240-1. PMC 5654383. PMID 22314809.
- ↑ Felderbauer P, Hoffmann P, Einwächter H, Bulut K, Ansorge N, Schmitz F, Schmidt WE (2003). "A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations". BMC Gastroenterol. 3: 34. doi:10.1186/1471-230X-3-34. PMC 317302. PMID 14641934.
- ↑ 15.0 15.1 Ellis I, Lerch MM, Whitcomb DC (2001). "Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues". Pancreatology. 1 (5): 405–15. PMID 12120217.