Patients with lysosomal storage diseases (LSDs), such as Pompe disease, could benefit from speedier diagnoses and improved disease management, according to results of a new study published in the Orphanet Journal of Rare Diseases.

The qualitative study was based on semistructured interviews with 20 patients and 25 health care professionals (HCPs) on topics related to the patient journey in LSDs.

The interviews focused on the main stages of the patient journey, including prediagnosis, diagnosis, the impact of the LSD on the patients’ daily routine and life, patients’ attitudes towards treatment and follow-up, and identifying unmet needs to improve patients’ quality of life.


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“Our data reflect that there are still [unmet needs] to be addressed both in the view of people with LSDs and HCPs,” the researchers wrote. “For HCPs, defining and standardising diagnosis criteria within clinical guidelines would be critical to ensure early diagnosis.”

Read more about Pompe disease patient education

Misdiagnoses and delayed diagnoses of LSDs abound, as reflected in the reported experience of an average of 5 years of delay in achieving a correct diagnosis, with 1 patient needing 34 years for a definitive diagnosis. For patients, prediagnosis was reported to be the worst phase of the patient journey.

Clinicians welcomed screening programs and recommended medical education for HCPs, particularly in primary care, as methods to reduce the diagnostic delay and improve awareness of LSDs. Only 27% of the surveyed HCPs reported receiving specific education on rare diseases during medical school, and 40%-45% recalled receiving continuing medical education on the topic in the last 5 years.

For patients with Pompe disease, the greatest impact of living was on their daily lives, especially their emotional well-being, their work/school environment, their families, and their social lives.

Additional unmet needs specified by both patients and HCP respondents included increased national promotion of rare disease specialist centers and units, the need for reliable and adapted patient education materials, easier access to genetic and psychological counseling, and improved education for social workers regarding the government benefits available to patients with Pompe disease and other LSDs.

Reference

de Dios García-Díaz J, López-Rodríguez M, Morales-Conejo M, et al. Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals. Orphanet J Rare Dis. 2022;17(1):17. doi:10.1186/s13023-021-02168-7