Exploratory tests (depending on history and physical examination findings and the type of lysosomal storage disorder that is suspected) include:
DIAGNOSTIC TESTS
MPS I disease
• Urinary glycosaminoglycans • Ophthalmologic tests to identify cornea abnormalities • Radiological evidence of dysostosis multiplex • Imaging to identify hepatomegaly despite near normal liver function
Gaucher disease
• Blood tests to confirm: • anaemia • thrombocytopenia (with platelet dysfunction and coagulopathy) • elevations in alkaline phosphatase, transaminases, serum ferritin, TRAP, ACE or chitotriosidase (specific marker) • Imaging to identify hepatosplenomegaly • skeletal imaging (MRI) for bone marrow infiltration with Gaucher cells • X-ray of symptomatic sites
Fabry disease
• Urinalysis to confirm microalbuminuria/proteinuria • Renal function tests (identify renal insufficiency) • Physical examination to identify dark red skin rash in bathing trunk area (angiokeratomas) • Ophthalmologic tests to identify cornea abnormalities • ECG or ECHO to identify cardiac abnormalities (left ventricular hypertrophy and mitral valve thickening and/or insufficiency)
Pompe disease
• Elevations in serum creatine kinase, transaminases and lactate dehydrogenase. • Chest X- ray to identify cardiomegaly (in infants) • ECG and cardiac echo • Muscle testing, e.g., electromyography and nerve conduction studies (in adults)
Note: for a diagnostic test, an EDTA blood sample is required
Quick Fact: More than 50% of rheumatologists do not know which tests are appropriate to confirm Fabry or Gaucher disease.
If you suspect a patient of having a lysosomal storage disorder, contact a metabolic/genetic specialist that specialises in the management of lysosomal storage disorders or contact Genzyme for further information.
Go to TREATMENT to learn about effective treatments and therapy options available.
