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A multi-institutional team of medical researchers has discovered that measuring the activity of four specific genes in pediatric patients suspected of having appendicitis can predict whether the case is simple or perforated. In their study, reported in the journal JAMA PediatricsThe group studied gene expression signatures in children diagnosed with appendicitis to learn more about the associations between these signatures and disease severity.
Appendicitis is inflammation of the appendix due to an infection that occurs, usually as a result of a blockage. Such inflammation usually leads to abdominal swelling and pain. Previous research has shown that appendicitis can take many forms, from chronic to acute. In the most severe cases, the appendix bursts, sending fluid into the abdomen, paving the way for blood poisoning and/or sepsis. Children tend to develop appendicitis more often than adults.
While it is generally not difficult to diagnose appendicitis, it is difficult to assess its severity. Less severe cases, in which the appendix has not burst, can usually be treated with antibiotics. The most severe cases usually require immediate surgery to remove the appendix.
Because of the difficulty in quickly determining the severity of a case, medical researchers are looking for possible markers. In this new study, the Australian team found that measuring the activity level of four specific genes can help assess the severity of appendicitis in children.
The work involved studying signatures of genetic activity in pediatric patients that they believed could be linked to appendicitis. In doing so, they found four; PLBD1, S100A12, S100A8 and ANXA3. All four were found to be upregulated in patients with perforated appendicitis.
They also noted that previous research had linked three of the same genes to sepsis severity. By taking blood samples from 70 pediatric patients diagnosed with appendicitis, genetic activity testing found severe cases in 85% of cases.
More information:
Maurizio Pacilli et al, New genetic biomarkers to diagnose pediatric appendicitis, JAMA Pediatrics (2024). DOI: 10.1001/jamapediatrics.2023.6731
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