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. 2021 Oct 25;11(1):20972.
doi: 10.1038/s41598-021-99921-6.

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Robin Pokrzywinski  1 , Asha Hareendran  2 , Luba Nalysnyk  3 , Sandy Cowie  4 , Joslyn Crowe  5 , Justin Hopkin  5 , Dhaivat Joshi  3 , Ruth Pulikottil-Jacob  6
Affiliations

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Robin Pokrzywinski et al. Sci Rep. .

Abstract

Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes. Little is known about how ASMD symptoms affect the lives of patients and their caregivers. In a cross-sectional qualitative study conducted in the US and UK, and in collaboration with the National Niemann-Pick Disease Foundation (US) and Niemann-Pick UK, we investigated the symptom experience of patients with ASMD types B and A/B and explored how the disease impacts their and their caregivers' lives. The study included 17 adult patients (mean age 38.7 years, 12 female), three caregivers of adults with ASMD, 12 pediatric/adolescent patients with ASMD (mean age 10.5 years, six female), and 12 caregivers of pediatric/adolescent patients with ASMD. The most commonly reported disease manifestations were respiratory (n = 26, 89.7%), abdominal (n = 25, 86.2%), and musculoskeletal symptoms (n = 23, 79.3%); excessive bleeding or bruising (n = 20, 69%); fatigue (n = 20, 69%); gastrointestinal symptoms (n = 18, 62.1%); and headache (n = 15, 51.7%). ASMD was reported to negatively impact patients' physical function (n = 23, 79.3%), self-esteem (n = 18, 62.1%), emotions (n = 16, 55.2%), social function and relationships (n = 16, 55.2%), and personal care (n = 9, 31%). Providing care for individuals with ASMD negatively affected caregivers' emotional well-being (n = 12, 80%), social function (n = 4, 26.7%), relationships (n = 6, 40%), and financial security (n = 7, 46.7%). The physical toll of providing care, the need for lifestyle changes, and the responsibility for making medical decisions added to the burden for caregivers. Alternatively, some caregivers noted that caring for a loved one enhanced their spirituality, providing them with a different outlook on life and a deeper personal resolve. This study showed that ASMD is a substantial burden for patients and caregivers, with long-term physical, emotional, social, and financial impacts. The study confirmed commonly known manifestations of ASMD, especially respiratory problems, but also identified less recognized ones, such as dermatological complications. The data collected and insight gained from this study should enhance clinical care, help evaluate new treatments, and inform health care decision making for patients with ASMD.

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Conflict of interest statement

RP and AH are employees of Evidera, which was paid by Sanofi Genzyme for work related to this study. DJ and RPJ are current employees of Sanofi Genzyme and may hold shares and/or stock options in the company. LN was employed by Sanofi Genzyme while the study was conducted and may hold shares and/or stock options in the company. SC, JC, and JH declare no competing interests.

Figures

Figure 1
Figure 1
Symptoms reported by patients with acid sphingomyelinase deficiency. “Growth and development” is not shown for adult patients because it was not relevant.
Figure 2
Figure 2
Impact of ASMD on patient’s daily lives. *Adult patients: common daily activities. Pediatric/adolescent patients: hobbies, activities and sports.
Figure 3
Figure 3
Impact of ASMD on caregivers.
See this image and copyright information in PMC

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