Hunter Syndrome (MPS II): Causes, Symptoms, and Treatment

 

Hunter syndrome is a rare, genetic condition in which the body's sugar molecules are not adequately digested (broken down). These chemicals can cause damage to physical and mental growth and capacities if they accumulate in organs and tissues over time. Almost all cases of the condition occur in male. Mucopolysaccharidoses are a group of disorders that include Hunter syndrome. Mucopolysaccharidosis type II (MPS II) is another name for the condition.

Risk factors

If you have a family member with Hunter syndrome, you're more likely to get it. Boys are more likely to inherit the condition than girls. Because the disease is linked to the X chromosome, this distinction exists. Girls are born with two X chromosomes, whereas boys are born with only one. If a girl inherits the defective gene, the essential enzyme can be provided by her other X chromosome.

Causes

A gene mutation (abnormality) passed down from a woman to her child causes Hunter syndrome. The gene in question is in charge of controlling the production of a certain enzyme. This enzyme breaks down the body's complex carbohydrates. The body does not create any or enough of this enzyme in those who have the condition. Sugar molecules accumulate in organs and tissues throughout the body as a result of the missing enzyme. These deposits can harm organs and tissues all across the body.

Signs and symptoms

Symptoms of both kinds of Hunter syndrome commonly occur in children between the ages of 2 to 4. Hunter syndrome symptoms range in severity and include the following:

• Joints that are stiff
• Thickening of facial features such as the nostrils, lips, and tongue
• Teeth that emerge later than usual or have large gaps between them
• A larger-than-average head, a broad chest, and a short neck
• Hearing loss that worsens over time
• Delayed growth, especially beginning around the age of five
• enlarged spleen and liver
• White skin growths

Treatment

Hunter syndrome treatment is determined by the symptoms. The goal of treatment is to reduce illness progression and improve quality of life. Enzyme replacement therapy has been demonstrated to be the most effective in this regard.

Problems related to Hunter syndrome

Hunter syndrome is classified into two types: severe and mild. The severe kind progresses more quickly and includes decreased intellectual abilities. In the most severe cases, people begin to have issues with basic functioning between the ages of 6 to 8. Hunter syndrome can cause a slew of consequences, depending on its severity. To treat these issues, doctors use drugs and, in some cases, surgery. They are as follows:

• Breathing difficulties caused by thickening tissue and restricted airways
• Cardiovascular disease
• Anomalies of the joints and bones
• Brain function decline
• Carpal tunnel syndrome
• Seizures 
• Problems with behaviour

Hunter syndrome has no known cure. The most severe instances can be fatal, with life expectancy ranging between 10 and 20 years. People with moderate forms of the condition tend to live into adulthood longer. Many patients find that therapies such as medications, physical therapy, and surgery can help them manage the obstacles that the disease imposes and enhance their quality of life.