How else might you see MPS?
Patterns of signs and symptoms warrant a high 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 speciality-specific targeted clinical assessments, laboratory findings and patient history. This division is illustrated below.
Signs and symptoms of MPS1-4,10,12–25
Musculoskeletal
General features
- Abnormal gait
- Bone dysplasia
- Claw hands
- Coarse facial features
- Joint pain
- Macrocephaly
- Pectus carinatum
- Reduced endurance/exercise intolerance
- Short stature/growth retardationa
Features revealed by speciality-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 speciality-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
Features revealed by speciality-specific assessment
- Abnormal epiglottis
- Depressed nasal bridge
- Hypertrophic adenoids
- Hypertrophic tonsils
- Middle ear mucus
- Narrowing of supraglottic and infraglottic airway
- Ossicular malformation
- Recurrent and excessive rhinorrhea
- Recurrent otitis media
- Tracheal thickening/compression
- Tubular obstruction
- Tympanic membrane thickening
Ophthalmological
General features
- Cataracts
- Diffuse corneal clouding
- Glaucoma
Features revealed by speciality-specific assessment
- Amblyopia
- Corneal clouding with characteristic ‘ground glass’ appearance
- High hyperopia
- Hypertelorism
- Optic nerve abnormalities (swelling and atrophy)
- Peripheral vascularisation of the cornea
- Progressive pseudo-exophthalmos
- Reduction in visual acuity
- Retinopathy
- Strabismus
Neurological
General features
- Behavioural abnormalities (typically not present in MPS IVA and VI)
- Developmental delay (typically not present in MPS IVA and VI)
- Hearing impairment
- Seizures (typically not present in MPS IVA and VI)
Features revealed by speciality-specific assessment
- Arachnoid cysts (typically not present in MPS IVA and VI)
- Brain atrophy (typically not present in MPS IVA and VI)
- Carpal tunnel syndrome
- Cervical cord compression/myelopathy/subluxation
- Enlarged perivascular space
- Hydrocephalus
- Odontoid dysplasia
- Pachymeningitis cervicalis
- Papilledema/optic atrophy
- Sensorineural deafness
- Signal-intensity abnormalities
- Spinal canal stenosis
- Ventriculomegaly
Cardiovascular
General features
- Reduced endurance/exercise intolerance
Features revealed by speciality-specific assessment
- Pulmonary hypertension
- Thickened, regurgitant or stenotic mitral or aortic valves in presence of left ventricular hypertrophy
- Tricuspid regurgitation
Pulmonary
General features
- Reduced endurance/exercise intolerance
- Sleep apnoea
Features revealed by speciality-specific assessment
- Obstructed upper and lower airways (bronchial narrowing, narrowing of supraglottic and infraglottic airway)
- Progressive reduction in lung volume
- Respiratory infections
- Sleep disorders (obstructive sleep apnoea/hypopnoea syndrome and upper airway resistance syndrome)
Gastrointestinal
General features
- Abdominal pain
- Constipation
- Hepatosplenomegaly
- Hernias
- Loose stools
Features revealed by speciality-specific assessment
Dental
General features
- Abnormal buccal surfaces
- Dentinogenesis imperfecta
- Hypodontia
- Pointed cusps
- Spade-shaped incisors
- Thin enamel
Features revealed by speciality-specific assessment
- Abnormal buccal surfaces
- Thin enamel
aSkeletal involvement and short stature may be less overt in some patients.
Patients with undiagnosed MPS often have joint-related signs and symptoms (which may mimic other rheumatological disorders) and thus may present to a rheumatologist.6 Rheumatology consequently plays an essential role in identifying individuals with MPS. Appropriate patients should be referred to a geneticist or metabolic centre for definitive diagnosis and, when available, initiation of treatment.1