Managing Hunter Syndrome Symptoms
There are several supportive therapies available that may help manage the signs and symptoms of the disorder and treat any resulting complications.
Some of the common symptoms and complications are:
- Airway and pulmonary problems
- Infections
- Cardiac complications
- Excessive fluid collection in the area around the brain causing increased pressure
- Hernias
- Join contractures, scoliosis, carpal tunnel syndrome
- Seizures
- Gastrointestinal symptoms; abdominal discomfort; diarrhea
In this section, you'll find information on how these are commonly treated. If you have any questions about treating your or your loved one's Hunter syndrome symptoms, please speak to your doctor.
Management of Airway and Pulmonary Complications
Breathing problems may be treated with oxygen therapy, which may be given as needed during the day or continuously at night while a person with Hunter syndrome is sleeping. The use of breathing devices, e.g., CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure) with or without oxygen in people with sleep apnea may improve sleep and reduce the risk of heart failure caused by low night-time blood oxygen levels.
More about breathing devices
CPAP (continuous positive airway pressure, pronounced “see-pap”) uses a face mask, nasal prongs, or an endotracheal tube to assist breathing by pumping air into the airway, keeping the airway open, and increasing lung volume.
BiPAP (bilevel positive airway pressure, pronounced “bi-pap”) varies the airway pressure to assist breathing and expiration using the same apparatus as CPAP.
Surgery to remove enlarged tonsils and adenoids may ease breathing problems in some people with Hunter syndrome who have obstructive airway disorders and sleep apnea; however, the adenoids may re-enlarge. Some people may require an endotracheal tube or tracheostomy (each of these are methods of placing a tube directly into the airway to aid breathing).
Anesthesia and surgery can be dangerous for people with Hunter syndrome
When possible, surgical procedures and anesthesia for people with Hunter syndrome should be carried out by surgeons and anesthesiologists experienced in the management of people with MPS. This is because the airway in people with Hunter syndrome is compromised by the presence of accumulated GAG in the membranes of the airway as well as altered airway anatomy that makes intubation difficult.
Infections
Early in childhood, people with Hunter syndrome have frequent ear infections, as do many children without this disease. However, children with Hunter syndrome do not “grow out” of this condition, as do other children, and continue to have chronic and recurrent ear infections requiring antibiotic treatment.
People with Hunter syndrome usually develop secondary bacterial sinus or middle ear infections after viral infections, such as colds or flu, and therefore may benefit from long-term antibiotic therapy. One complication of long-term antibiotic therapy is that the infecting bacteria can develop resistance to the antibiotics used, making it more difficult to treat future infections.
Tympanostomy tubes (T tubes) may be inserted in the ear for people with recurrent ear infections to improve fluid drainage from the ear, speeding recovery from infection. The presence of tubes also improves ventilation, and may aid in both healing of ear infections and improvement of hearing.
Therapeutic Management of Cardiac Complications
Heart problems can sometimes be severe in people with Hunter syndrome. The continued accumulation of GAG in the heart can weaken the heart muscle, damage the valves, and narrow the arteries. These complications may lead to high blood pressure, heart failure, and heart attacks. High blood pressure, if present, can be treated with antihypertensive medications. Damaged heart valves may be surgically replaced.
Other Surgical Procedures
Communicating hydrocephalus (“fluid on the brain”) can be treated by inserting a shunt or thin tube to drain fluid from the brain when the fluid pressure in the skull is too high.
Hernias may be repaired surgically. Inguinal hernias are always repaired, and may sometimes come back. Umbilical hernias may be repaired if their size may cause a problem; they often return after surgical repair.
Other conditions that may be treated surgically include scoliosis, joint contractures, and carpal tunnel syndrome, in which the compressed nerves are freed.
Other Therapies
Some symptoms and signs of Hunter syndrome may be addressed with the use of other supportive therapies.
These include:
- Specific medication to treat seizures, if present.
- Hearing aids may be effective for people with either conductive or nerve deafness or combination deafness.
- The use of physical therapy, e.g., range-of-motion exercises, may preserve the function people have, but would not be expected to restore lost function.
- In addition to the surgical treatment mentioned above, carpal tunnel syndrome may also be treated by splinting.
- Finally, dietary changes and medications may improve gastrointestinal symptoms in some people with Hunter syndrome.
Not all symptoms and complications of Hunter syndrome are able to be addressed with supportive therapies. At times it may be helpful to talk to other families, your physician, nurse or genetic counselor to identify strategies that may help you improve your quality of life.