Content
Progeria, also known as Hutchinson-Gilford Syndrome, is a rare genetic disease that is characterized by accelerated aging, about seven times the normal rate, so a 10-year-old child, for example, appears to be 70 years old.
The child with the syndrome is born apparently normal, only slightly smaller for his gestational age, however as he develops, usually after the first year of life, some signs appear that are indicative of premature aging, that is, the progeria , such as hair loss, loss of subcutaneous fat and cardiovascular changes. Because it is a disease that causes rapid aging of the body, children with progeria have an average life expectancy of 14 years for girls and 16 years for boys.
Hutchinson-Gilford Syndrome has no cure, however, as signs of aging appear, the pediatrician may recommend treatments that help improve the child's quality of life.
Main features
Initially, progeria has no specific signs or symptoms, however, from the first year of life, some changes that are suggestive of the syndrome may be noticed and should be investigated by pediatricians through exams. Thus, the main characteristics of premature aging are:
- Development delay;
- Thin face with small chin;
- Veins appear on the scalp and can reach the nasal septum;
- Head much larger than the face;
- Hair loss, including eyelashes and eyebrows, being more common to observe total hair loss at 3 years;
- Accentuated delay in the fall and growth of new teeth;
- Eyes protruding and with difficulty to close the eyelids;
- Absence of sexual maturation;
- Cardiovascular changes, such as hypertension and heart failure;
- Development of diabetes;
- More fragile bones;
- Inflammation in the joints;
- High-pitched voice;
- Decreased hearing capacity.
Despite these characteristics, the child with progeria has a normal immune system and there is no brain involvement, so the child's cognitive development is preserved. In addition, although there is no development of sexual maturation due to hormonal changes, the other hormones involved in metabolism work correctly.
How the treatment is done
There is no specific form of treatment for this disease and, therefore, the doctor suggests some treatments according to the characteristics that arise. Among the most used forms of treatment are:
- Daily use of aspirin: allows to keep the blood thinner, avoiding the formation of clots that can cause heart attacks or strokes;
- Physiotherapy sessions: help to relieve joint inflammation and strengthen muscles, avoiding easy fractures;
- Surgeries: are used to treat or prevent serious problems, especially in the heart.
In addition, the doctor may also prescribe other medications, such as statins to reduce cholesterol, or growth hormones, if the child is very underweight, for example.
The child with progeria must be followed by several health professionals, as this disease ends up affecting several systems. Thus, when the child begins to present joint and muscle pain, he should be seen by an orthopedist so that he recommends the appropriate medication and gives guidance on how to spare the joints, avoiding the worsening of arthritis and osteoarthritis. The cardiologist must accompany the child from the time of diagnosis, since most of the carriers of the disease die due to cardiac complications.
All children with progeria must have a diet guided by a nutritionist, to avoid osteoporosis as much as possible and improve their metabolism. Practicing any physical activity or sport at least twice a week is also recommended, as it improves blood circulation, strengthens muscles, distracts the mind and consequently the family's quality of life.
Being advised by a psychologist can also be useful for the child to understand his illness and in cases of depression, in addition to being important for the family.