Is there a rare genetic disease hiding in your department?
Often mischaracterised as either purely a childhood disorder or a musculoskeletal disease, MPS might not be as uncommon as you think
Mucopolysaccharidosis (MPS) disorders are a group of inherited enzyme deficiencies with heterogeneous presentation and variable disease progression that are suspected to affect 1 in 22,500 live births worldwide.1,2
Similar clinical manifestations and rates of progression are seen across MPS disorders. The images below illustrate patterns of MPS disease progression as seen in a patient with MPS VI.
Delay in diagnosis is common and can be devastating for patients3
Perceived disease rarity, variability in disease progression and presentation, and the myriad of nonspecific symptoms associated with MPS make diagnosis challenging. Time to diagnosis from first symptom manifestation can range from six months to decades.3
Early diagnosis is essential to optimise patient outcomes3,5
Early diagnosis can enable improved patient outcomes through access to disease-specific management and enzyme replacement therapy (ERT).3,5–8
For many MPS disorders, there is an ERT either already available or in development. The best way to diagnose MPS and, in turn, initiate treatment, is to refer any patient you suspect to a geneticist or metabolic centre familiar with testing for it.9
Look for early signs and symptoms of MPS, especially:3,10–12
- Joint and skeletal abnormalities
- Short stature
- Any gradual, progressive changes in physical appearance
- Subtle expressions of skeletal abnormalities, including thickened ribs or clavicles, subtle genu valgum, and joint abnormalities or pain
- Reduced exercise capacity and/or unexplained cardiovascular involvement, especially heart murmur in paediatric patients
- Unexplained hearing or visual impairment (corneal clouding)