Aging is a natural process that is part of life. In some rare diseases the aging process is accelerated. This manifests itself in aging at a very young age. A young child can then look like an old person. The child’s intelligence and social development is often very normal. Progeria or the Hutchinson-Gilford Progeria Syndrome is such a rare disease.

What is Hutchinson-Gilford Progeria Syndrome? (HGPS)

The Hutchinson-Gilford Syndrome is also called “Progeria Infantilis” or simply “Progeria”. The literal meaning of Progeria is “accelerated aging”.This mainly concerns the physical complaints that arise due to aging. There is absolutely no mention of dementia.The intellectual development of children with Progeria is normal. They show no delay in learning. They are often eager to learn. They also often show a very active impression with a very normal view of life. However, the motor skills are somewhat less, especially due to the joint complaints.The disease is named after two English doctors. Dr. Hutchinson and Dr. Gilford, who respectively Progeria was first described in 1886 and 1904. Hence the name Hutchinson-Gilford Progeria Syndrome 

How often and to whom does it occur?

Progeria is very rare. The number of children born with Progeria is estimated at 1 in 8 million. Progeria occurs everywhere in the world. It is not gender specific, although it is more common in boys than girls. Progeria also does not only occur in certain races or skin color. There are 15 known patients with Progeria in Europe and approximately 45 worldwide.It is possible that a Progeria patient will have a brother or sister with the same condition . The chance is very small, but families are known to have 2 children with Progeria.Due to its rarity, the disease is often misdiagnosed and often discovered later. Usually only when the real signs of aging occur. Due to the unfamiliarity of the disease, the child unnecessarily undergoes major medical examinations, which is often very stressful with little result.

How does Progeria arise?

The cause is a spontaneous mutation (change) in the DNA. The LMNA gene, the gene that codes for the protein “Lamin-A”, is damaged in this condition. A major investigation is currently taking place in Europe, because apparently another genetic defect is involved in the development of the disease.Lamin-A is a protein that holds the cell nucleus together and ensures proper functioning and reproduction. The lamin layer (Lamin-A and Lamin-C) influences the activity of the cell.In Progeria it appears that the end sections (telomeres) on the chromosomes are also strongly shortened. This is an indication of the limited life force of the cells. Without telomeres the cell dies. In Progeria, the telomeres are used up 8 times faster. This leads to rapid aging.The aging process releases free oxygen radicals that are very reactive and damage the cells. The result is that the production of various hormones stops. This creates a shortage of necessary building blocks for renovation. Once cells are destroyed by free radicals, they cannot be regenerated. The decay of the body cannot be stopped. The result is therefore increasing aging. 

The symptoms

There often seems to be nothing wrong at birth. Usually, children with Progeria are born with normal height and weight. Only during the first years (18-24 months) do the symptoms become visible.In the first year of life, development is often unremarkable. However, there are a number of changes.

• The skin of the chest and abdomen is sometimes dry or red. This is due to drying and hardening of the connective tissue.
• The skull size sometimes shows strong growth.
• There is beginning hair loss
• Reduced mobility (motor skills)

From the second year onwards, the characteristic features of Progeria become clearly visible.

• Hardly any increase in height growth and weight.
• Small face with large, sometimes bulging eyes.
• Relatively small jaw. There is not enough space for the teeth.
• Scalp hair is very thin and noticeably reduced. Baldness soon develops.
• Clearly visible blood vessels on the head.
• Skin is less elastic, often tight, thin and translucent.
• Circles are visible under the eyes.
• Age spots

Other phenomena that may occur:

• Increasing stiffness of the joints, which usually starts in the finger joints and knees
• Arthrosis: Wear and tear on the joints
• Arthritis: Inflammation of the joints
• Pain in the joints
• Arterosclerosis: hardening of the arteries. This causes changes to the blood vessels and all other organs, resulting in connective tissue hardening and blood circulation disorders.
• Stiff legs with slightly bent knees. Stiff movement when walking.
• The last phalanges are shortened
• Problems with the hip, sometimes hip dislocation.
• Very short, often wide, nails.
• Decreased functioning of the senses.
• Stagnant growth.

Therapy

There is currently no cure for Progeria patients. However, there are a number of treatments or therapies that can alleviate the symptoms. Also for prevention and to delay serious complications for as long as possible. It will make life a little easier for the child. A targeted choice must be made for each patient with a view to its effect.Quality of life can improve somewhat by:

Low dose Asprine.

The risk of blood flow problems (due to vasoconstriction) in the brain and a heart attack can be reduced in this way. If too many bruises occur or if a wound continues to bleed for a long time, the treatment must be stopped immediately.

Nutritional supplements

Some children eat poorly. A supplement with nutritional supplements to the meals is then desirable. This provides the child with more energy.

Dental care

The jaw is often too small for the teeth. Caution is advised when undergoing major dental care. The baby teeth must be well cared for. The exchange of teeth is only partial, although the second teeth are potentially present.

Skin care

Certain bath oils and body lotions can reduce itching. Also to protect thin skin against dryness.

Physiotherapy

Special physiotherapy and adapted physical exercises. Light massage can keep the muscles and joints flexible, making it easier for the child to move. The pain in the joints can also reduce somewhat.

Swimming

Swimming in warm water can promote blood circulation and strengthen the muscles. It counteracts joint stiffening.

Adjustments / Tools

Adjustments can be made in the home so that the child can develop his independence. Consider, for example, a step stool, lowering the doorbell, adjustments to the toilet, low sink, etc.An adjustment to the bicycle . This way, despite their joint problems or heart problems, they can still cycle.A lower table and chair at school, making it easier for the child to sit. Or perhaps a wooden block under their feet. Some children find it very annoying to be bald . They would like to wear a wig when they go outside or to school.

Other treatments, less or no success

With Progeria there is very little growth and puberty development does not start.Human growth hormone Research has shown that administering human growth hormone to children with Progeria is pointless. It is no longer used because science has not yet been able to determine whether the aging process is accelerated by the use of human growth hormone.Animal growth hormone Outside the Netherlands, some progeria patients have been treated with animal growth hormone. It does not lead to a cure, but some parents found that the physical condition of the children improved. Opinions about this type of cell therapy are very different and are therefore not permitted in the Netherlands.Heart surgery Children with Progeria can undergo heart surgery, but it has only a limited effect. Heart surgery can also entail many risks for a Progeria patient. It is therefore almost never used.

Psychological and physical problems

Every Progeria patient develops differently, even though they are often very similar.The physical developments are also different for every patient. Good physical care with appropriate exercise and a healthy diet can significantly improve the condition.There is no intellectual lag. Intellectual development in Progeria is normal. Children with Progeria are generally very social, often friendly in nature. They usually develop a powerful personality. It is often unimaginable how they have so much energy, psychologically speaking.

Mental health problems

Due to their appearance, small and “old looking”, children with progeria are often stared at or bullied. It can happen that the reactions of strangers or passers-by come across as hurtful. This is very annoying for the children and parents must support their child in this. In such a painful situation, the child often seeks love and attention from the parents. It wants to feel safe and be able to express its opinions. That is why the love and support of the parents is indispensable. When the child feels accepted, he or she gains more inner security. Self-acceptance can be stimulated by parents, for example by giving them compliments and encouragement.The physical consequences of the disease can also arouse emotions in the child. The acceptance of the disease and the pain they often experience can cause psychological problems for the child. Most older children often know exactly what is going on and that it could kill them. They understand everything very well. Here too, the support of the parents or a psychologist is needed.Parents of children with Progeria also often have psychological problems and emotions. They have to accept that their child has Progeria. All kinds of thoughts and questions will run in the head. The child will look different. No long life expectancy. What does the future look like for the child? What complications will the child have? How can I provide the best care for my child? etc. Parents also have to be able to live with this. Parents can benefit from psychological help and contact with fellow sufferers.

Contact with fellow sufferers

Contacting peers is very important for both the child and the parents. Only then do the children see that they are not the only ones with the disease. They gain more self-confidence and more zest for life. For the parents too, of course. They can exchange experiences with other parents of a child with Progeria. Moreover, during such a meeting with fellow sufferers, doctors are often present who discuss specific problems. In this way, in addition to exchanging experiences, parents can also ask for advice and advice. Contact with other children and their parents always appears to provide a lot of emotional support.

Prognosis

Life expectancy is very short. Progeria patients age about 8-10 years every year. The average life expectancy of these children is around 13 years. Half of children die before the age of 14 from the consequences of the disease. Some children died around the age of 20.Ultimately, there may be serious consequences that can cause the patient to die: Cardiovascular disease, heart attack, cerebral infarction, stroke, embolism.

Update:

There is new hope for patients with HGPS, see link http://www.progeria.nu/index3.html