Tag Archives: genetic

Kids With Acute Pancreatitis Need Followup

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F Ahmed, M Abu-El-Haija. Gastroenterol 2025; 169: 572-584. Open Access! Acute Pancreatitis in Children: It’s Not Just a Simple Attack

This is a really good review of acute pancreatitis covering epidemiology, diagnosis, severity classification, management, microbiome/metabolite derangements, genetics, and complications. Most of these topics have been covered in numerous blog posts (see below).

Selected Key Points:

  • Diagnostic testing -Amylase/Lipase:  “The diagnostic efficacy of amylase for AP, in terms of sensitivity and specificity, is contingent on the selected threshold value. Elevating the cut-off point to 1000 IU/L results in a high specificity of approximately 95%. However, this comes at the cost of reduced sensitivity, which some studies report to be as low as 61%… the activity of serum lipase remains elevated for a longer duration, typically between 8 and 14 days,… Lipase demonstrates superior accuracy with most studies reporting specificities exceeding 95% and sensitivities ranging from 55%–100% at a threshold activity level of 600 IU/L…hese tests have excellent sensitivities, they may have a few limitations such as being poor predictors of severity”
  • Risk Factors in Children (from Figure 1):
  • Incidence and Severity in Children (from Figure 1):

[At a recent lecture, Jay Freeman (How to Upgrade Pancreas Care –Jay Freeman MD (Part 1)) noted that severe pancreatitis is often defined by degree of organ dysfunction (eg. cardiac, pulmonary, renal). A practical definition of severe pancreatitis in children is whether the patient requires admission to an ICU]

  • Diagnostic testing -Imaging: “Imaging techniques are crucial for diagnosing and managing AP in children…NASPGHAN) and the Society for Pediatric Radiology formed consensus guidelines where transabdominal ultrasonography was recommended as the primary imaging technique for pediatric cases with suspected AP…Recent studies in the pediatric population have indicated that US’s sensitivity for AP detection ranges from 47%–52%.25 …Magnetic resonance cholangiopancreatography (MRCP) is useful for anatomical assessment without radiation but may require sedation”
  • Management: “The cornerstones of therapy are early feeding and intravenous fluids… Allowing patients to eat on admission was feasible and was associated with lower length of stay. Rates of intravenous fluids are recommended at 1.5–2 times maintenance rates,49 and the preferred fluid is Lactated Ringer’s due to limited studies including a recent randomized controlled study that showed that Lactated Ringer’s was associated with a faster discharge rate when administered compared with normal saline.50“
  • Genetics:  “A recently conducted study investigated the importance of genetics in pediatric AP patients…use of an extensive panel of 8 genes… PRSS1, CFTR, SPINK1, CPA1, CTRC, CLDN2, CASR, and SBDS… genetics is a major component in all types of pancreatitis in children, with genetic variants being most prevalent in CP cases at 31%, followed by AP at 19%, and ARP at 6%. A key discovery was that variants in SPINK1, CFTR, or PRSS1 genes were associated with faster progression from first episode of AP toward CP.53“
  • Complications (from Figure 1): “After the first episode of AP, the QoL is decreased, and it may lead to other disorders such as exocrine dysfunction, endocrine dysfunction and diabetes, nutritional deficiencies, and acute recurrent pancreatitis and CP.”

My take: Even after a single episode of acute pancreatitis, there are risks for long-term complications and patients need to follow-up.

Related blog posts:

HLA-DRB1*01:03: Biomarker for Severe Ulcerative Colitis

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MV Vestergaard et al. . JAMA. Published online October 15, 2024. doi:10.1001/jama.2024.20429. HLA-DRB1*01:03 and Severe Ulcerative
Colitis

Background: This study aimed to identify biomarkers by conducting a Danish nationwide genome-wide association study (GWAS) on severe vs less severe ulcerative colitis.

Methods: Severe ulcerative colitis: Patients with severe ulcerative colitis were defined as having at least 1 major ulcerative colitis–related operation, at least 2 ulcerative colitis–related hospitalizations exceeding 2 days, and/or use of at least 5000 mg of systemic corticosteroids within 3 years of diagnosis

The authors utilized two source populations

  1. The Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT) neonatal blood spot cohort (NBS) includes individuals born in Denmark and diagnosed with ulcerative colitis from 1981 to 2022
  2. The North Denmark Biobank study is a population-based cohort of patients from Northern Denmark with inflammatory bowel disease from 1978 to 2020 (NorDIBD)

The combined cohort included 4491 patients (4153 from NBS and 338 from NorDIBD) with a mean (SD) age at diagnosis of 23.3 (8.4) years; 53% of patients were female and 27% had severe disease.

Key findings:

  • The association with HLA-DRB1*01:03 (Figure 1) had an OR of 6.38 for major operation, OR of 5.24 for at least 2 hospitalizations, and OR of 2.30 for use of at least 5000 mg
    of systemic corticosteroids in carriers vs noncarriers
  • Carriage of HLA-DRB1*01:03 allele was 2.8% in these cohorts
  • Limiation: Danish cohort -may not be applicable to other populations

My take: HLA-DRB1*01:03 is a low-frequency allele, carriers have a significantly higher risk of severe ulcerative colitis.

Related blog posts:

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