During the last 2 years of Coronavirus SARS-CoV-2 pandemic we witnessed a more personalized approach between lysosomal disease (LD) patients and healthcare professionals. Indeed, in many specialized units of inborn errors of metabolism (IEM) there has been an extraordinary effort to adjust telemedicine and home therapy to the increasing needs of LD patients. Furthermore, in our Spanish Association of IEM (AECOM) a new section (AECOM&Sociedad) was created with the aim to attend the increasing needs of communication, and education in partnership with patient's associations. Along the end of 2020 and first months of 2021 a combined quest including knowledge about the disease, beliefs about medicines (BMQ), and illness perception (BIPQ) was opened on-line among Gaucher (GD) and Fabry (FD) Spanish populations. We obtained 40 GD (55.7% males) and 49 FD (53% males) anonymous responses. The proportion of adults was 87.5% and 96% for GD and FD cohorts, respectively. Results: The Batalla test of knowledge about the own disease showed a very good and similar result for both cohorts (94% GD and 92% FD). However, striking differences were observed concerning disease control (71% GD vs 44% FD), concern about the disease (75% GD vs 90% FD), and emotional affectation (37% GD vs 65% FD). In addition, these results were compared with 35 PKU/HPA patients referring clinical symptoms in 20% of cases compared to 65% GD and 57% FD, high level of disease knowledge and control (94 and 88%, respectively), and lower percentages for disease concern (63%) and emotional affectation (34%). Conclusions: Compared to GD, FD patients report lower perception of disease control, and higher levels of disease concern and emotional affectation. Differences were still wider when comparing FD with PKU patients. These self-reported results add evidence to the high complexity of FD and the need of multidisciplinary care for LD population.
Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires