Frequency and characterization of pain in adult patients with Pompe disease

Aims: Pain in adult patients with Pompe disease (glycogenosis type II) is a common complaint, but has not yet been well characterized.

Methods: In this multicentre cross sectional study, patients were recruited by the German and UK section of the International Pompe Association and the Erasmus Medical Center. The pain onset, its intensity and qualities, its impact on the functional ability and depression parameters as well as its relation to disease severity and pain medication were analysed by questionnaires (Brief Pain Inventory (BPI), Rotterdam Handicap Scale (RHS), Gardner-Medwin-Walton-Scale (GMWS), Hospital Anxiety and Depression Scale (HADS), SF–36). Here the results of the German subgroup are presented.

Results: Of the 113 patients who were contacted, 65 patients responded. All of them were adults at the time the questionnaires were completed with 23% of them had juvenile-onset and 67% had adult-onset. Patients had a mean age of 50.0 years (SD 14.9, range: 18–74) and 60% was female. The mean RHS score was 23 (SD 8), the mean GMWS was 5.1 (SD 2.6). Pain was the first symptom in 13.8%. At the time of completion of the questionnaires 48.9% complained about pain. The mean depression score of the HADS was 5.3 (SD 3.7), the mean anxiety score of the HADS was 5.5 (SD 3.8). The pain intensity did correlate neither with the HADS score, nor with the functional disability (GMWS). The pain was located in the shoulder girdle in 52% and in the hip girdle in 57%. The mean pain intensity was 3.1+2 (0–8). The most frequently reported types of pain were, exhausting pain (52%), aching-throbbing pain (51%), stabbing/gnawing pain (45%), and aching-penetrating pain (33%). Thirty-eight percent of the patients took regularly pain medication and received physical pain reducing therapy.

Conclusions: Pain is an important and often disabling symptom in the course of the disease of adult Pompe patients.