Background/aims: Gaucher disease (GD) is autosomal recessive lysosomal storage disorder caused by the deficiency of enzyme glucocerebrosidase (GCD) with consequent massive acumulation of lipid-laden macrophages in various tissues including liver. It has been shown that chronic diseases with liver involvement might cause IGF1 deficiency. The aim of the study was to assess the IGF1 system in adult patients with type 1 Gaucher disease with and without enzyme replacement therapy (ERT).
Methods: We studied serum concentration of total IGF1 in a cohort of 15 patients with type 1 GD (9 females and 6 males, mean age 44.2±3.4 years), and 15 healthy age- and gender-matched control subjects. Also CT liver volumetry was done in patients with GD. All the patients attained normal adult height during puberty. Most of them (No 10) were on specific enzyme replacement therapy (ERT) with recombinant GCD for at least 2 years.
Results: We found significantly decreased serum IGF1 levels in Gaucher patients in comparison with healthy controls (82.6±12.6 vs 195.7±15.8 μg/l, respectively). There was no significant difference in IGF1 levels between treated and untreated patients with GD (94.3±16.7 vs 59.3±14.8 μg/l). Total IGF1 serum concentration was decreased in 11 patients with Gaucher disease (five patients without treatment and six patients on regular ERT). In seven patients total IGF1 was unmeasurable (three untreated, and four treated patients). There was no correlation between liver volume and serum IGF1 level.
Conclusion: Our results indicate that type 1 Gaucher disease in adult patients with normal height is associated with low, sometimes unmeasurable levels of IGF1 which is probably the consequence of liver involvement and is irrespective of ERT. The clinical impact of this finding on the quality of life and life expectancy in these patients has yet to be determined.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology