MPS VI: A spectrum of clinical presentation
Age at onset, symptom severity and rate of disease progression varies dramatically between and within MPS VI. Yet, most patients eventually experience significant declines in physical and functional well-being, ultimately become wheelchair bound or bedridden, and die prematurely.4 Physical limitations can also impact learning and development of motor skills.2
Disease progression: rapidly progressing
Patients with rapidly progressing disease experience an early onset of symptoms and severe debilitation. Death from infections, complications related to surgeries and cardiopulmonary disease usually occur when they are teenagers or young adults.2
Rapidly advancing disease is very apparent at an early age. Look for:
- Macrocephaly
- Skeletal abnormalities
- Fixed flexion of fingers
- Enlarged abdomen (hepatomegaly)
- Umbilical hernia
Disease progression: slowly progressing
Patients with slowly progressing disease have later onset of symptoms and may live well into their 40s and 50s.2
Unlike rapidly progressing patients, slowly progressing patients often do exhibit obvious symptoms. However, any form of MPS VI is not a mild disease.2
- Major causes of mortality include cardiac and pulmonary complications, and complications from surgery and general anesthesia.2
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