An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis

Jalaly, Niloofar Y; Moran, Robert A.; Fargahi, Farshid; Khashab, Mouen A.; Kamal, Ayesha; Lennon, Anne Marie; Walsh, Christi; Makary, Martin A.; Whitcomb, David C.; Yadav, Dhiraj; Cebotaru, Liudmila; Singh, Vikesh K.

doi:10.1038/ajg.2017.106

Cited by 70 publications

(50 citation statements)

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“…Therefore, a careful evaluation for acute pancreatitis risk factors and aggressive pursuits to modify them remain paramount to the treatment approach. These include occult gallstone disease, alcohol and smoking, metabolic risk factors such as hypertriglyceridemia, and genetic factors [29–32]. …”

Section: Discussionmentioning

confidence: 99%

Recurrent Acute Pancreatitis Significantly Reduces Quality of Life Even in the Absence of Overt Chronic Pancreatitis

Coté

Yadav

Abberbock

et al. 2018

American Journal of Gastroenterology

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OBJECTIVES: The impact of recurrent acute pancreatitis (RAP) on quality of life (QOL) is unknown. We hypothesized that RAP would reduce QOL even in the absence of chronic pancreatitis (CP). METHODS: Data were pooled from three prospective, cross-sectional studies conducted across 27 U.S. centers (the North American Pancreatitis Studies); these included subjects with chronic pancreatitis (n = 1086), RAP alone (n = 508), and non-disease controls (n = 1025). QOL was measured using the Short Form 12 (SF-12), generating a Physical Component Summary (PCS) and the Mental Component Summary score (MCS). Multivariable regression models were developed to measure the effect of RAP on QOL, the predictors of lower QOL in those with RAP, and the differential effect QOL predictors between CP and RAP. RESULTS: Compared to controls (51.0 ±9.4), subjects with RAP (41.1 ± 11.4) and CP (37.2 ± 11.8) had lower PCS (p < 0.01). Subjects with CP had lower PCS compared to those with RAP (p < 0.01). Similarly, MCS was lower among RAP (44.6 ± 11.5) and CP (42.8 ± 12.2) subjects compared to controls (51.7 ± 9.1, p< 0.01). Subjects with CP had lower MCS compared to those with RAP (p < 0.01). After controlling for independent predictors of PCS, RAP was associated with lower PCS (estimate −8.46, p < 0.01) and MCS (estimate −6.45, p < 0.0001) compared to controls. The effect of endocrine insufficiency on PCS was differentially greater among RAP subjects (−1.28 for CP vs. −4.9 for RAP, p = 0.0184). CONCLUSIONS: Even in the absence of CP, subjects with RAP have lower physical and mental QOL. This underscores the importance of identifying interventions to attenuate RAP before the development of overt CP.

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Section: Discussionmentioning

confidence: 99%

Recurrent Acute Pancreatitis Significantly Reduces Quality of Life Even in the Absence of Overt Chronic Pancreatitis

Coté

Yadav

Abberbock

et al. 2018

American Journal of Gastroenterology

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“…In cases with reasonable doubt about the sincerity of a patient concerning alcohol anamnesis, quantification of carbohydrate-deficient transferrin in blood, or ethyl glucuronide in urine or hair, can be useful [24, 25]. A disease manifestation before 20 years of age, as well as the occurrence of CP in the setting of recurrent idiopathic pancreatitis, should lead to exclusion of genetic causes, which are reported in up to 63% in this patient collective [26, 27]. In all patients with so-called idiopathic CP, autoimmune pancreatitis should be ruled out.…”

Section: Diagnosismentioning

confidence: 99%

Endoscopic and Conservative Management of Chronic Pancreatitis and Its Complications

et al. 2019

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“…In this group of patients, early genetic testing should be performed. In patients with a mutation of the CFTR gene, one should consider screening for surgical fibrosis with a sweat test [83].…”

Section: Etiology Evaluationmentioning

confidence: 99%

Systematic Review of Most Common Causes of Acute Pancreatitis

Roberto¹,

Zilio²,

Lucas³

et al. 2019

Preprint

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Introduction: Cholelithiasis and consumption of alcohol are the most frequent causes of acute pancreatitis (AP), accounting for about 30 to 40% of the cases, respectively. The frequency of acute biliary pancreatitis is high in a certain population in Brazil. Objective: To estimate the global frequencies of acute biliary pancreatitis (ABP), acute alcoholic pancreatitis (AAP) and the cases considered as acute idiopathic pancreatitis (AIP) in studies published from October 2006 to December 31, 2018. Methods: A systematic review of observational studies was performed from October 2006 to December 31, 2018. A meta-analysis by the random effects model was used to calculate the frequencies of global ABP, AIP and AAP and subgroups. Results: Forty-six studies representing 2,341,007 AP cases were included in 36 countries. The overall estimate for acute biliary pancreatitis (ABP) was 41.6% (95% CI 39.2-44.1), followed by acute alcoholic pancreatitis (AAP) with 20.5% (95% CI) 16.6- 24.6) and acute idiopathic pancreatitis (AIP) in 18.3% (95% CI 15.1-27.7). Conclusion: ABP is the most prevalent etiology of AP, being two times more frequent than second-placed pancreatitis. Latin America has a frequency for ABP much higher than the rest of the world. The importance of the etiologic diagnosis is the treatment of the cause for prevention of recurrence.

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An Evaluation of Factors Associated With Pathogenic PRSS1, SPINK1, CTFR, and/or CTRC Genetic Variants in Patients With Idiopathic Pancreatitis

Abstract: Pathogenic genetic variants are most likely to be identified in patients with ARIP and an unexplained first episode of AP<35 years of age. Genetic testing in these patient populations may delineate an etiology and prevent unnecessary diagnostic testing and procedures.

Cited by 70 publications

References 58 publications

Recurrent Acute Pancreatitis Significantly Reduces Quality of Life Even in the Absence of Overt Chronic Pancreatitis

Recurrent Acute Pancreatitis Significantly Reduces Quality of Life Even in the Absence of Overt Chronic Pancreatitis

Endoscopic and Conservative Management of Chronic Pancreatitis and Its Complications

Systematic Review of Most Common Causes of Acute Pancreatitis

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