Unraveling the Holistic Impact of ASMD on Patients and Caregivers

A recent review examined the significant physical, social, emotional, and financial impacts of acid sphingomyelinase deficiency (ASMD) on patients and caregivers from an overall lifestyle standpoint

The mechanisms of acid sphingomyelinase deficiency (ASMD), some forms of which are known as Niemann-Pick disease (NPD), is known to be caused by variants in the SMPD1 gene, which encodes acid sphingomyelinase.

While its symptoms are known, there is little research on how the disease symptoms affect the lives of patients themselves or their caregivers. A recent study aimed to assess ASMD’s physical, emotional, social, and financial impacts on patents and caregivers.

Common symptoms of ASMD, which is a rare and progressive lysosomal storage disease that can be fatal, depend on the disease type. ASMD type A is neurovisceral and typically presents in infants, and symptoms generally lead to death by 3 years of age. Patients with type A/B have varying neurological symptoms that progress more slowly, but type A/B most commonly leads to interstitial lung disease, hepatosplenomegaly, thrombocytopenia, dyslipidemia, delayed growth, shortness of breath, fatigue, and pain. Patients with type B do not typically experience any of the neurological symptoms present in type A or A/B.

The cross-sectional qualitative study investigated the personal experiences of 17 adult ASMD patients, 12 pediatric or adolescent ASMD patients, and 12 caregivers of pediatric/adolescent patients to assess the disease’s impact on their lives. The majority of patients had ASMD type B (14 of 17 adults and 9 of 12 children). In-depth interviews were conducted either in-person or by phone between August 2015 and December 2019.

The Patient Perspective

Patients most commonly reported respiratory, abdominal, and musculoskeletal symptoms (89.7%, 86.2%, and 79.3%, respectively). All pediatric patients plus 14 of 17 adults experienced respiratory symptoms—such as shortness of breath, cough, repeated respiratory infections, chest pain, and difficulty breathing—that resulted in discomfort and physical limitations. Abdominal symptoms included pain and discomfort as well as an enlarged or distended abdomen that was sometimes painful when bending. Musculoskeletal symptoms included muscle weakness, bone pain, and joint pain.

Other common symptoms were excessive bleeding or bruising, fatigue, gastrointestinal symptoms, and headache (69%, 69%, 62.1%, and 51.7%, respectively).

From a lifestyle standpoint, the disease negatively affected patients regardless of age. A total of 79.3% of patients reported that their physical function, including daily activities and chores, was negatively impacted. This was the most commonly reported impact from the patient perspective.

Patients also reported that the disease had a negative impact on self-esteem (62.1%); affected emotions by causing anxiety, depression, sadness, frustration, concern, and fear (55.2%); affected social function and relationships (55.2%); and made it necessary for them to seek help with personal care (31%).

The Caregiver Perspective

Three caregivers in the study assisted adult patients and 12 took care of pediatric/adolescent patients. Providing care for a patient with ASMD affected the emotional wellbeing (80%), financial security (46.7%), relationships (40%), and social function (26.7%) of caretakers, creating a physical toll.

Emotionally, caretakers reported struggling with anxiety, stress, worry, frustration, guilt, exhaustion, and depression. Financially, there was a notable impact on financial status and security due to medical expenses, working less to support the patient and not being able to change employment due to the necessity of health insurance. Five caregivers reported direct effects on their employment due to their responsibilities.

Caretakers also reported physical effects ranging from sleeping less, perpetual exhaustion, interruptions to their own daily routines, and symptoms like back pain in the case of caregivers who needed to carry pediatric patients. Caring for patients also had social effects, like an inability to engage in activities with friends and family, leading to an even smaller support system.

More positively, some caretakers also reported that their spirituality increased due to the obligation to care for their loved one. This, they reported, gave them a new outlook on life and deeper personal resolve.

One limitation of the study is that it did not examine the relative importance of each facet of patients’ and caregivers’ lives, nor did it assess the frequency and impacts of individual symptoms.

Overall, the study provided insight on the range of experiences of ASMD patients and their caregivers. The symptoms of the disease had significant effects on patients not just physically, but also emotionally and socially. Caregivers were also affected by emotional, social, and financial struggles due to their commitment to a loved one with ASMD. The authors conclude that these data can "enhance clinical care, help evaluate new treatments, and inform health care decision making for patients with ASMD.”


Pokrzywinski R, Hareendran A, Nalysnyk L, et al. Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective. Sci Rep. Published online October 25, 2021. doi:10.1038/s41598-021-99921-6