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. 2019 Nov 14;14(1):254.
doi: 10.1186/s13023-019-1233-z.

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey

Alexandra Morrison  1 , Esmee Oussoren  2 , Tabea Friedel  3 , Jordi Cruz  4 , Nalan Yilmaz  5
Affiliations

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey

Alexandra Morrison et al. Orphanet J Rare Dis. .

Abstract

Background: Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the first to explore the patient experience through direct questioning of the caregivers of 13 individuals with MPS VII.

Methods: This European survey, using a specifically designed questionnaire, was conducted in order to describe the pathway to diagnosis and the burden of illness of MPS VII. Information on early symptoms, clinicians seen, and current symptoms was collected. Questions on the caregivers' ability to work and the use and availability of health, social and educational support were included.

Results: Caregivers of 13 patients from Germany, Spain, The Netherlands and Turkey responded to the survey. Five patients with non-immune hydrops fetalis (NIHF) were diagnosed with MPS VII at a mean age of 1.9 years (median 0.3 years, range 0.2 to 6 years). Those without NIHF (n = 7) were diagnosed at a mean age of 6.1 years (median 6.0 years, range 1.9 to 14 years). The symptoms most likely to raise a suspicion of MPS VII, excluding NIHF, did not appear until a median age of at least three years. Over one half of patients required assistance with daily living and mobility. Reduction of the working hours of caregivers was often necessary (46.2% reduced hours, 30.8% stopped working). Patients attended frequent medical appointments (12.7/year), over 80% had surgery and 30% had been hospitalised for respiratory issues. While support for learning and behavioural needs was generally available, support for mobility was not available to 50% of patients. Half of the respondents (6/12) said they were not offered genetic counselling.

Conclusions: For children that do not present with NIHF, diagnosis can take several years as early symptoms can be non-specific and mistaken for other conditions. Increased awareness of the early signs of disease and more information for parents/caregivers at diagnosis are needed. MPS VII poses significant burden to patients, caregivers, healthcare, social and educational services. Access to information and support varies across Europe and the availability of genetic counselling is limited in some countries.

Keywords: Burden of illness; Caregiver burden; Diagnosis; Diagnostic delay; Diagnostic odyssey; Lysosomal storage disorder; MPS VII; Mucopolysaccharidosis type VII; Sly disease.

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Conflict of interest statement

AM declares that she has no competing interests. TF declares that she has no competing interests. JC declares that he has no competing interests. NY declares that she has no competing interests. EO participated in an advisory board for Ultragenyx.

Figures

Fig. 1
Fig. 1
Symptoms present before diagnosis in patients not tested for MPS VII due to the presence of NIHF (n = 8*). This was a multiple-choice question. Respondents gave details of other symptoms for three patients: one patient with scoliosis, one patient with severe scoliosis, club foot and hip dislocation and one patient with cleft palate. *Symptoms for the patient diagnosed at birth in whom the NIHF status was unknown were not recorded by the respondent
Fig. 2
Fig. 2
Age when symptoms first occurred in patients not tested for MPS VII due to the presence of NIHF (n = 8*). *Symptoms for the patient diagnosed at birth in whom the NIHF status was unknown were not recorded by the respondent. Respondents were asked to record the age of onset of pre-diagnosis symptoms only. However, five respondents recorded the age of onset for some symptoms as occurring after the age of diagnosis
Fig. 3
Fig. 3
Healthcare professionals consulted before diagnosis of MPS VII by patients not tested for MPS VII due to the presence of NIHF (n = 9). This was a multiple-choice question, with the option to list any other healthcare professionals seen. Details of other healthcare professionals seen were noted for three patients: one patient was seen by a neurologist, traumatologist, psychologist, doctor of internal medicine and endocrinologist, one patient saw an orthopaedic doctor and one patient consulted a homeopath. ENT: ears, nose and throat
Fig. 4
Fig. 4
Current symptoms (n = 13). This was a multiple-choice question. Respondents gave details of other symptoms for four patients: one patient previously had difficulty with toilet training, one patient had severe scoliosis, short stature, a small and rigid thorax, hip dislocation and genu valgum, one patient had knee pain, back pain, side (spleen) pain and an enlarged spleen
Fig. 5
Fig. 5
Help needed with daily activities (n = 13). Other help that was noted by respondents included family counselling, one-to-one to help in connection with their learning difficulties (to take pressure off mother), support in the morning to encourage independence, and assistance with wheelchair
Fig. 6
Fig. 6
Number of medical appointments in a typical year (n = 12). Patients attend multiple appointments in a typical year and see a variety of medical professionals. This figure does not include visits made for a clinical trial or any additional comments that were listed by respondents in the questionnaire. These comments included ‘There are routine checks every six months’, ‘cardiologist once a year’, and ‘complete check-up when needed’. ENT: ears, nose and throat
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