Hunter Syndrome, also known as Mucopolysaccharidosis type II or MPS II, is a rare genetic disease more common in men characterized by the deficiency of an enzyme, Iduronate-2-Sulfatase, which is important for the correct functioning of the body.
Due to the decrease in the activity of this enzyme, there is an accumulation of substances inside the cells, resulting in severe symptoms and progressive evolution, such as joint stiffness, cardiac and respiratory changes, the appearance of skin lesions and neurological changes, for example.
Symptoms of Hunter Syndrome
The symptoms of Hunter Syndrome, disease progression speed and severity vary from person to person, the main characteristics of the disease being:
- Neurological changes, with mental deficiency; Hepatosplenomegaly, which is the enlargement of the liver and spleen, leading to an increase in the abdomen; Joint stiffness; Gross and disproportionate face, with a large head, wide nose and thick lips, for example; Loss of hearing; Retinal degeneration; Difficulty moving; Frequent respiratory infections; Difficulty speaking; Appearance of skin lesions; Presence of hernias, mainly umbilical and inguinal.
In more severe cases there may also be cardiac changes, with decreased heart function, and respiratory changes, which may result in airway obstruction and increasing the chances of respiratory infections, which can be serious.
Due to the fact that symptoms manifest and evolve differently among patients with the disease, life expectancy is also variable, with a greater chance of death between the first and second decade of life when symptoms are more severe.
How the diagnosis is made
The diagnosis of Hunter Syndrome is made by the geneticist or general practitioner according to the symptoms presented by the person and the result of specific tests. It is important that the diagnosis is not made only based on clinical manifestations, as the characteristics are very similar to those of the other mucopolysaccharidoses, and it is important that the doctor orders more specific tests. Learn more about mucopolysaccharidosis and how to identify it.
Thus, it is important to measure the amount of glycosaminoglycans in the urine and, mainly, to evaluate the activity levels of the enzyme Iduronate-2-Sulfatase in fibroblasts and plasma. In addition, other tests are usually recommended to check the severity of symptoms, such as ultrasound, tests to assess respiratory capacity, audiometry, neurological tests, eye examination and resonance of the skull and spine, for example.
Treatment for Hunter Syndrome
The treatment for Hunter Syndrome varies according to the characteristics presented by people, however it is usually recommended by the physician to perform the enzyme replacement to prevent the progression of the disease and the appearance of complications.
In addition, the doctor recommends specific treatment for the symptoms presented and occupational therapy and physical therapy in order to stimulate the speech and movement of patients with the Syndrome to prevent motor and speech difficulties, for example.
