An initial screening campaign for late-onset Pompe disease (LOPD) in China in 2022 showed, as a warning sign, a predominance of respiratory involvement and less frequent hyperCKaemia. A new campaign was carried out on 726 patients, with an average age of 37.6, including 96 children under 14:
- 51.1% presented with hyperCKaemia, 57.9% with limb-girdle muscular dystrophy and 10.2% with respiratory failure;
- GAA activity on a blot test was reduced in 44 patients: the genetic diagnosis of LOPD was confirmed in 16 of them (i.e. 2.2% of the cohort), as well as in three other patients in their siblings; seven had another diagnosis (limb-girdle myopathy 2B, Guillain-Barré, necrotising autoimmune myositis, myotonic dystrophy type 1, autoimmune encephalitis, mitochondrial encephalomyopathy); 21 remained without a diagnosis.
Given that CK levels are significantly higher in the population under 16 years of age, the authors propose a criterion of hyperCKaemia of twice normal associated with respiratory or proximal muscular damage, as an indication for screening for LOPD in this population.
