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A closing webinar with Dr Christina Lampe (metabolic specialist, University Hospital Gießen, Germany) on understanding the needs of mucopolysaccharidosis (MPS) patients and their families — the diagnostic delay, the multidisciplinary and surgical challenges, and the psychosocial burden. For paediatricians and healthcare teams. (The CSV also credits Prof. Can Ficicioglu; this recording is presented by Dr Lampe.)
Dr Lampe synthesises the series into a holistic view of MPS care. MPS are rare, multisystemic, chronic, progressive, life-threatening genetic diseases with wide variability — the stiff types (MPS I, II, VI, VII), the hypermobile Morquio types (MPS IVA/B), and the mainly CNS MPS III — and the diagnosis is genuinely challenging because the early signs (airway and ear infections, hearing loss, macrocephaly, hernia) are non-specific and mimic common childhood illness, giving a mean diagnostic delay of about three years (over ten in 20% of cases; ~6.5 years in Morquio). The undiagnosed family is not taken seriously, endures an odyssey between physicians, and risks misdiagnosis (often as an untreatable skeletal dysplasia) and unnecessary or wrong surgery — while delayed diagnosis means delayed treatment and avoidable irreversible organ damage. Care must therefore be multidisciplinary and holistic — not only the metabolic and organ specialists but psychological, social and legal support — and Dr Lampe emphasises the heavy psychosocial burden on the whole family (parents' guilt, depression, chronic stress and their own health risks; effects on siblings; disrupted daily life and sleep), against which psychological support is markedly under-provided (a European survey showed availability far below need). She details the high anaesthetic and surgical risk — difficult positioning, difficult airways, atlantoaxial instability, limited cardiorespiratory reserve — which means surgery belongs in specialised centres with experienced anaesthesia and ICU access and careful pre-operative assessment. She frames the model of care: the specialised centre plans assessments, treatment (stem-cell transplant under two years in severe MPS I, enzyme replacement therapy, trials, or symptomatic care) and multidisciplinary decisions, while the home paediatrician — who knows the child best — handles emergencies and continuity, with good communication between them. Her closing message: early diagnosis, multidisciplinary treatment, attention to the psychosocial burden, and connection to a patient association together make optimal care.
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Because the early signs — airway and ear infections, hearing loss, macrocephaly, inguinal hernia — are common in childhood and non-specific, mimicking ordinary illness, so only the combination points to MPS, and 'you only see what you know'. The mean delay is about three years, over ten years in 20% of cases, and in one survey 40% of respondents did not know the link between the symptoms and MPS. It matters because delayed diagnosis means delayed treatment, and in a chronic progressive disease starting late allows irreversible organ damage — besides leaving the undiagnosed family unsupported and at risk of misdiagnosis and unnecessary surgery.
Because these patients have a high anaesthetic risk: difficult positioning (chest deformity, enlarged abdomen, contractures), difficult airways (short neck, large head, macroglossia, thickened and narrowed airways, needing paediatric tubes even in short-statured adults), atlantoaxial instability requiring a neutral neck position, and limited cardiorespiratory reserve — so perioperative mortality is higher. This requires specialised centres with an experienced anaesthetist supervising pre-, peri- and post-operative care, ICU access, prior ENT/respiratory/cardiac/radiological assessment, and multidisciplinary discussion weighing the surgical benefit against the anaesthetic risk. Notably, contractures noticed during positioning for surgery have themselves led to an MPS diagnosis.
Because MPS is a disease of the whole family: parents feel upset, guilty and 'on a roller coaster', are more prone to suppressed depression and chronic illness themselves, and worry about unaffected siblings, while disrupted routines and unpredictable sleep make daily life hard. Yet a European survey showed psychological support is available to far fewer patients and caregivers than need it. Dr Lampe's practical advice is to involve the family fully in the care plan, actively recommend psychological support, and connect families to a patient association, whose psychologists and peer experience help greatly — because optimal care is not only medical but psychosocial.
They share the care. The specialised centre plans and organises the assessments, decides treatment (stem-cell transplant under two years in severe MPS I, enzyme replacement therapy, clinical trials, or symptomatic care), and runs the multidisciplinary discussion — for example weighing a surgeon's view that an operation is needed against the anaesthetist's view that the risk is high. But the home paediatrician, who has known the child since birth and lives close by, handles emergencies and continuity, since the centre may be hours away. Good two-way communication — the centre feeding its decisions back to the paediatrician — is what makes the collaboration deliver optimal, safe care.
This content is intended for healthcare professionals only. The views expressed are those of the presenters and do not necessarily reflect those of Excellence in Pediatrics; their inclusion does not imply endorsement. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.