Hunter Syndrome Treatment: A Comprehensive Look at Evolving Care Approaches
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder caused by a deficiency of the iduronate-2-sulfatase enzyme. This enzyme plays a crucial role in breaking down complex molecules called glycosaminoglycans (GAGs). When GAGs accumulate in the body, they lead to progressive damage affecting organs, tissues, and cognitive function. While the condition is lifelong, advancements in treatment have significantly improved the quality of life for many individuals.
One of the most widely used approaches in Hunter syndrome treatment is enzyme replacement therapy (ERT). This method involves infusing a synthetic version of the missing enzyme to help reduce GAG buildup. ERT has been shown to ease symptoms such as joint stiffness, breathing difficulties, and enlarged organs. Although it does not cross the blood-brain barrier—meaning it cannot directly address neurological symptoms—it remains a cornerstone therapy for physical manifestations of the condition. For many patients, regular ERT sessions help increase mobility, reduce fatigue, and support overall well-being.
Another important area of treatment focuses on symptom-specific management. Because Hunter syndrome affects multiple systems, individuals often require a multidisciplinary team of specialists. This may include cardiologists monitoring heart function, pulmonologists managing airway complications, orthopedists addressing skeletal issues, and neurologists supporting cognitive or behavioral concerns. Treatments are tailored to each person’s unique needs. For example, airway surgeries may be recommended to improve breathing, while physical therapy helps maintain flexibility and muscle strength. Assistive devices, such as hearing aids or mobility supports, also play a valuable role in daily living.