Liver stiffness in patients with Shwachman-Diamond syndrome

This case series aims to describe whether transient elastography (TE) as a marker of liver stiffness is associated with clinically important liver disease in children and young adults with Shwachman-Diamond Syndrome (SDS).

All patients ≤25 years of age with genetically confirmed SDS seen in the Pediatric Gastroenterology Clinic at Boston Children's Hospital from 07/2017 to 11/2019 were included. Data collected included TE, hepatic transaminases, fecal elastase, and anthropometry. The correlation of liver stiffness measurements with alanine aminotransferase (ALT) and aspartate aminotransferase (AST) was assessed by Spearman rank correlation accompanied by 95% confidence intervals based on Fisher's Z transformation.

Eight patients (six female) were identified with genetically confirmed SDS for whom the median age on the day of TE was 6years. Median (range) AST and ALT were 31 U/L (17-61) and 30 U/L (12-87), respectively, obtained within a median of 18 days (range 0-168) from liver stiffness measurement (LSM). All patients had exocrine pancreatic insufficiency as defined by fecal elastase <200 μg/g. Five patients had abdominal ultrasound within a median of 1.7 years (range 0.0-5.1), of whom four had normal results (one unknown). All eight patients underwent TE with median (range) LSM and controlled attenuation parameter (CAP) measurement (n = 6) of 5.2 kPa (3.3-6.4) and 171 dB/m (113-250), respectively. LSM greater than METAVIR F0 was not associated with AST and ALT elevations.

In our case series of eight patients with SDS, LSM greater than METAVIR F0 was reported in three patients, two of whom had normal transaminases. This suggests that subclinical liver disease may exist in SDS patients with normal hepatic transaminases.