An increasing need exists for adult metabolic physicians who can manage patients with lysosomal storage diseases (LSDs), including lysosomal acid lipase deficiency (LAL-D), who survive into adulthood or are being diagnosed at a later age.
A qualitative, cross-sectional study on the subject was conducted in Turkey, with findings published in the French journal Archives de Pédiatrie.
LSDs are inherited metabolic disorders that involve the lysosomal degradation of lipids, proteins, and complex carbohydrates. In both pediatric and adult patients, LSDs present with multisystemic involvement. Because more pediatric patients with LSDs are surviving into adulthood, health authorities need to implement necessary regulations on the training of adult metabolic physicians.
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Recognizing that in many countries clinics dedicated to treating adults with LSDs do not exist, the researchers sought to identify the unmet medical needs of these adult patients. The study endeavors to establish the positive and negative aspects involved in managing adults patients with LSDs by pediatric metabolic specialists from the patient perspective, as well as to offer suggestions to healthcare professionals regarding changes in patient care and pediatric-to-adult transition in care.
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The current study was conducted at a single Turkish pediatric metabolic center. In Turkey, there are no specific educational programs designed for physicians to care for adults with LSDs or inherited metabolic disorders. Thus, adult patients with these disorders are frequently managed by pediatricians with a specialty in metabolic disorders or adult clinicians with a particular interest in LSDs.
Focus groups involve interactions and interviews among small groups of individuals. The participants typically contribute to open discussions intended for research.
In the current study, the focus group comprised 24 adults with LSDs. All of the interviews were performed in person. Twenty-four individuals from 19 families participated in the analysis. Overall, 10 patients were female;
7 patients were married and had children. Of the 24 participants, 11 had been diagnosed prior to 18 years of age
and 13 were diagnosed in adulthood.
Comments on structural characteristics of hospitals by patients/caregivers included issues associated with the presence of pediatric patients in waiting rooms and examination rooms. These problems primarily were related to stigmatization of adult patients by relatives of pediatric patients while in the waiting room. Patients reported having privacy issues as well.
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Pediatric healthcare professionals indicated concerns that they were not adequately knowledgeable about the special problems experienced by adults that typically are not reported in children, including reproductive issues and alcohol use, and difficulties with requests for consultations. In contrast, some of the patients, especially those who had been managed since childhood, did not report any issues with communication and expressed satisfaction with their supervision.
The number of patients who desired to receive healthcare from adult metabolic physicians was higher among those diagnosed in adulthood compared with those who had been diagnosed in childhood (84.6% vs 18%, respectively).
Further, patients agreed that the transition process should be prolonged to avoid disruption and mismanagement. In fact, it was suggested that there be an interval during which both pediatric and adult clinics manage patients at the same time.
“Until the transition process is complete, pediatric metabolic clinicians should care for these patients in a coordinated, appropriate, and comprehensive manner,” the researchers concluded.
Reference
Bulut FD, Seydaoğlu G, Kor D, Kılavuz S, Boz A, Önenli Mungan N. Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey. Arch Pediatr. Published online June 16, 2023. doi:10.1016/j.arcped.2023.04.006
