Non-neuronopathic
As a patient with Hunter syndrome grows, the non-neuronopathic symptoms will become increasingly obvious and debilitating. The characteristic facial features and prominent brow begin to show around 2 years of age.1 Patients can be of average height for their first few years, before growth begins to slow, eventually leading to a short stature.3
A noticeable consequence of Hunter syndrome is that patients require numerous surgeries, even before the underlying disorder has been diagnosed.6 The repeated ear infections and hernias, and presence of enlarged tonsils and adenoids are early symptoms of Hunter syndrome that require treatment, and many Hunter syndrome patients will undergo multiple hernia repairs, tympanostomies, adenoidectomies and tonsillectomies before Hunter syndrome is identified.6
After these early symptoms, the disease continues to progress, and patients will often suffer from auditory, ocular and dental complications that require more surgeries. Other common developments are joint contractures and skeletal deformities, which gradually limit mobility, and eventually prevent the patient from walking and standing erect.3
The management of Hunter syndrome patients and their symptoms requires that physicians are aware of the special underlying and multisystemic nature of Hunter syndrome. Therefore it is extremely important to diagnose Hunter syndrome early in order to ensure timely and appropriate management.3
Learn more about the specialist multidisciplinary management of Hunter syndrome patients in Monitoring and management section of this website.
Cardiac and respiratory complications can be life-threatening. Cardiac involvement through valve disease is common in Hunter syndrome patients, from a median onset age of 6 years, and cardiac complications which develop include abnormal heart frequency, cardiomyopathy, left and right ventricle hypertrophy, arrhythmia, hypertension, and ultimately, heart failure.5,7
Respiratory tract infections such as pneumonia are common and can develop to be life-threatening. Respiratory failure, cardiac arrest, pneumonia, and cardiac failure are the most common causes of 60% of Hunter syndrome patient deaths as recorded in the HOS.8