Recognize the Common Presenting Features of MPS VI

	Common Presenting Features of MPS VI
Short stature
Progressively dysmorphic facial features
Normal intelligence
Corneal clouding
Recurrent otitis media, rhinosinusitis, and pneumonia
Obstructive airway disease
Cardiac valvular disease
Splenomegaly
Umbilical/inguinal hernia
Joint stiffness and contractures
Skeletal abnormalities

MPS VI is characterized by a constellation of clinical signs and symptoms that occur across multiple organ systems. This table lists some of the more common presenting features.¹

The extent of organ involvement and rate of disease progression varies widely among affected individuals. Rapidly advancing disease appears early in life with marked signs and symptoms, often matching the hallmark features described in textbooks. Due to genetic mutations that allow a small amount of enzyme activity, some affected individuals display slowly advancing disease and may not present signs and symptoms until adolescence or adulthood.¹

Photos courtesy of The National MPS Society, Inc. Disease Progression. An individual with rapidly advancing MPS VI (top) exhibits progressive development of dysmorphic facial features, macrocephaly, abdominal protrusion, and umbilical hernia. An individual with slowly advancing MPS VI (bottom) does not exhibit such obvious features.

Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw- Hill; 2001:3421-3452.