Non-invasive screening for liver fibrosis using transient elastography (TE) could be of value in the management of Gaucher disease (GD). Progranulin (PGRN) is a novel disease modifier in GD and an independent marker of liver fibrosis.
We determined PGRN levels in pediatric patients with GD and assessed its role as a potential marker for disease severity and relation to liver stiffness by TE.
Fifty-one GD patients (20 had type 1 and 31 had type 3) with a median age 9.5 years were compared to 40 age- and sex-matched healthy controls and were studied focusing on visceral manifestations, neurological disease, hematological profile and PGRN levels as well as abdominal ultrasound and TE. Patients were on enzyme replacement therapy for various durations and those with viral hepatitis infection were excluded.
By TE, 14 GD patients (27.5%) had elevated liver stiffness ≥7.0 kPa. Liver stiffness was significantly higher in type 1 GD patients than type 3 (p=0.002), in splenectomized patients (p=0.012) and those with dysphagia (p<0.001). Liver stiffness was positively correlated to age of onset of ERT (p<0.001). PGRN levels were significantly lower in GD patients compared with controls (p<0.001). PGRN was significantly lower in GD patients with squint (p=0.025), dysphagia (p=0.036) and elevated liver stiffness (p=0.015). PGRN was positively correlated to white blood cell count (r=0.455, p=0.002) and hemoglobin (r=0.546, p<0.001) while negatively correlated to severity score index (r=-0.529, p<0.001), liver volume (r=-0.298, p=0.034) and liver stiffness (r=-0.652, p<0.001).
Serum PGRN levels were associated with clinical disease severity and elevated liver stiffness in pediatric GD patients.
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