Cardiac involvement: common, severe and under-recognised in MPS

Cardiology plays a critical role in MPS diagnosis

Cardiac involvement is commonly seen in individuals with mucopolysaccharidosis (MPS) and leads to extensive morbidity and, potentially, premature mortality.¹ Early suspicion is therefore critical, regardless of whether cardiac symptoms are seen alone or in combination with other symptoms. Patients with MPS disorders – especially those with MPS I, II and VI – suffer from a high prevalence of cardiac disease, with a rate of approximately 60% to 100%.^1,2 Cardiac manifestations are often a predominant feature of the disease and frequently occur early.¹

Delayed diagnosis can lead to

Severe multisystemic complications^6-8
Irreversible or end-organ damage^7,8
Delayed treatment⁹
Lack of access to disease-specific management, with concomitant increase in risk of surgical mortality^1,6,3,10,-13

Watch key opinion leader Dr Offiah talk about variability in phenotype and disease progression.

Signs and symptoms are unpredictable and clinically heterogeneous across and within MPS disorders, making diagnosis challenging.^3,4 Typically, patients present with either rapidly or slowly progressing disease, though symptom progression can be highly variable across this spectrum.^4,5

Refer to check for MPS

Suspect, refer and rule out MPS

Because of emerging knowledge and therapeutic options, cardiology has opportunities to positively impact the lives of patients and families living with MPS through early identification, which can enable disease-specific management and access to available therapies.^3,10 Be aware of signs and symptoms to expedite early intervention.^3,12

Cardiac involvement is uniformly progressive, with incidence and severity increasing over time.¹ Although patients with MPS typically present with a wide range or cluster of symptoms, isolated symptoms may be sufficient to merit referral to a geneticist or metabolic centre.^4,14

Take a deep dive into signs and symptoms that should elevate your suspicion of MPS

Watch key opinion leader Dr Offiah talk about variability in phenotype and disease progression.

Presentation and disease progression are unpredictable, multisystemic, and variable across and within MPS disorders, making diagnosis challenging.³

Delayed diagnosis is common, and it can have devastating consequences for your patients. Early identification of signs and symptoms across systems can be critical to early and accurate diagnosis.⁹ Become familiar with the diverse signs and symptoms of MPS that may present in your practice.

Patterns of signs and symptoms should elevate your clinical suspicion of MPS

Regardless of the clinical setting, there are overt and generally observable signs that should raise your suspicion. Upon further examination, additional symptomatology may be discovered through specialty-specific targeted clinical assessments, laboratory findings and patient history. This division is illustrated below.

Signs and symptoms of MPS^{1,3,4,6,9,17-29}

Musculoskeletal

General features

Abnormal gait
Bone dysplasia
Claw hands
Coarse facial features
Joint pain
Macrocephaly
Pectus carinatum
Reduced endurance/exercise intolerance
Short stature/growth retardation^a

Features revealed by specialty–specific assessment

Abnormal gait
Bone deformities
Dysostosis multiplex
Genu valgum
Joint involvement (contractures, joint laxity) without inflammation
Spinal subluxation

Rheumatological

General features

Decreased joint mobility
Hip stiffness and pain
Joint pain
Joint stiffness or laxity

Features revealed by specialty–specific assessment

Carpal tunnel syndrome
Joint involvement without joint swelling or erosive bone lesions

Ear, Nose, and Throat

General features

Conductive and/or sensorineural hearing loss
Enlarged tongue
Recurrent otitis media