Progeria Type 1 (Hutchinson-Gilford Progeria Syndrome)

Type 1 progeria, also known as Hutchinson-Gilford progeria syndrome, is a serious, albeit extremely rare, childhood disease. In general, progeria can be described as a disease that causes the affected child to age in rapid succession.

Progeria Type 1 (Hutchinson-Gilford Progeria Syndrome)

What is Progeria Type 1?

The name of the disease called progeria type 1 is derived from the Greek, where “progeria” can be translated as “early age”. Type 1, also known as Hutchinson-Gilford syndrome (Jonathan Hutchinson and Hastings Gilford, the first two physicians to define childhood progeria), is restricted to children.┬áSee healthknowing for What is the Definition of Dyslexia.

This form of premature disease causes those affected to age five to ten times faster than healthy people. Accordingly, most sufferers die before they reach adulthood.

The average life expectancy here is only 14 years. Fortunately, type 1 progeria is as rare as it is devastating, with an estimated incidence of the disease at 1 in 8,000,000.

Causes

According to current scientific knowledge, the causes of progeria type 1 are genetic. In order to understand what causes the body to age quickly in those affected, you have to look at the cellular level:

Patients suffering from progeria type 1 lack the protein lamin A, which serves to stabilize the cell nucleus. This protein is normally encoded by the lamin A gene in DNA, but in type 1 progeria the bases are misaligned.

The result: the right protein is no longer produced, the walls of the cell nucleus are shapeless and collapsed. This in turn affects the quality of the genetic material and the process of cell division. Newly formed cells then function less and less, which accelerates the aging process enormously.

It is assumed that this genetic defect is based on spontaneous mutations, since the parents of the affected children did not show any symptoms of type 1 progeria, i.e. there was no inheritance.

Symptoms, Ailments & Signs

Symptoms of Hutchinson-Gilford Progeria Syndrome appear early. The affected children appear healthy at birth, but the first signs of the disease appear within the first year of life. It is striking that the children grow much more slowly than their healthy peers. They suffer from short stature at an early age. Another characteristic symptom of progeria is rapid aging and premature senescence.

This becomes noticeable through severe hair loss and dry, rough and thinning skin. This will reveal the veins under the skin. The skin on the head is particularly affected. Furthermore, the affected children typically have a small face with a nose resembling a bird’s beak. Those affected are particularly thin and bony because they lack subcutaneous fatty tissue.

A particularly bright voice is also striking. Children with progeria often suffer from diseases that usually affect older people. Osteoporosis and arthrosis often occur. Cardiovascular diseases also occur less frequently. Advanced progeria can even lead to heart attacks. The affected children often also have malpositions or stiffening of the joints and broken bones. They are no more frequently affected by other illnesses such as cancer or dementia than healthy children.

Diagnosis & History

Since the symptoms of progeria type 1 already appear in the first years of life, a diagnosis can be made quite early. The external conspicuity of these symptoms alone is usually sufficient to diagnose type 1 progeria (Hutchinson-Gilford progeria syndrome) in the affected child.

Just to be on the safe side, a genetic test can bring complete certainty. However, the external characteristics of the disease are obvious: Children suffering from progeria type 1 remain short and only have a thin physique. Typical symptoms of aging can be found in them, such as massive hair loss and rough, wrinkled skin.

Bone loss, vascular diseases and the loss of subcutaneous fat tissue are also part of this with increasing age. Most of those affected then die of a heart attack as a result of arterial occlusions. The course of type 1 progeria usually ends in puberty with death.

Complications

Type 1 progeria is a very serious disease. It occurs in childhood and must be treated immediately. Otherwise the person concerned will die. Patients with progeria type 1 suffer from very rapid premature aging. This disease is a major psychological burden, especially for relatives and parents.

For this reason, the parents can also suffer from psychological problems or depression. The child has a small face and dry skin. Hair loss can also occur and those affected can only speak in a very childlike voice. Furthermore, if left untreated, type 1 progeria leads to muscle and bone loss. The patients also suffer from an increased risk of a heart attack and can ultimately die from it.

Type 1 progeria cannot be treated causally. For this reason, only the symptoms are treated. With the help of various therapies, the symptoms can possibly be reduced. However, the life expectancy of those affected is significantly reduced and limited by the disease.

When should you go to the doctor?

Children showing abnormalities in the developmental process should be presented to a doctor. An unusually rapid aging of the child must be examined and treated immediately by a doctor. In most cases, the first abnormalities appear within the first year of life.

A delay in growth in direct comparison to children of the same age should be discussed with a doctor. Short stature is evident in many of those affected. Hair loss, a change in the complexion, aging or an appearance that resembles that of an adult must be clarified by a doctor.

A doctor’s visit is also necessary if there are disturbances in the heart rhythm or if optical changes develop in the face. A small face with a bird-like nose is characteristic of the condition and needs to be evaluated as soon as possible. A visit to the doctor is advisable as soon as the first abnormalities appear, since the disease, if left untreated, will lead to the premature death of the person concerned.

Short stature, deformities or irregularities in joint activity are signs of a health problem. There is a need for action to prevent serious complications from occurring. Peculiarities of the musculoskeletal system, frequent fractures and a heart attack in childhood are alarming indications of an existing disease. A comprehensive examination is necessary so that a diagnosis can be made and a treatment plan can be developed.

Treatment & Therapy

Due to the fact that progeria type 1 is based on a genetic defect, it cannot be treated causally like other genetic diseases. The only thing that can be done for those affected by this fateful disease is treatments to alleviate the complications that come with Type 1 Progeria.

Physiotherapy can be used to strengthen the muscles, which improves the mobility of the patient. Special lotions can be used to keep the skin more supple. Medications may also be prescribed to reduce certain symptoms as much as possible.

These include, for example, remedies for bone loss and vascular diseases. Due to the rarity of the disease, however, many drugs are still in the test phase. Nevertheless, all conceivable measures should be taken to at least improve the quality of life of those affected by type 1 progeria.

Prevention

Unfortunately, type 1 progeria cannot be prevented. It is a purely accidental disease of the genetic material, which arises from spontaneous mutations, albeit extremely rarely. Inheritance can definitely be ruled out. However, nowadays it is possible to diagnose type 1 progeria by genetic testing before birth.

Aftercare

There is no effective follow-up care for type 1 progeria, since the genetic disease has not yet been treatable. Children who suffer from the disease still need to have regular check-ups. During these examinations, the responsible doctor checks whether the child’s symptoms have worsened and what their general health is like.

Among other things, he tests how flexible the patient’s joints are and how sensitive the child is to pain. But also an examination of the blood circulation and the cardiopulmonary functions is absolutely necessary. Depending on the physical condition of the child, the symptoms are treated as far as possible.

Physiotherapy tailored to the patient helps against the progressive stiffening of the joints. Sensitive skin should be protected with special creams, lotions and regular baths. A healthy, balanced diet combined with medication to prevent the formation of thrombosis supports blood circulation.

But psychological care for the child and his family is also very important. Since the children are often excluded from their peers because of their illness, they should get in touch with other children in special therapy groups. Parents, on the other hand, should learn how to support their child in everyday life and how to make them forget that they are suffering from an incurable disease.

You can do that yourself

A child with Progeria Type 1 is likely to need the help of others throughout their lives. This means an enormous physical and mental burden for the parents. To compensate, parents should seek supportive psychotherapeutic treatment. This also applies to the patients themselves, who may be bullied or marginalized.

There are no direct self-help groups for those affected by progeria and their relatives, as the disease is too rare for that. However, the website www.progerie.com offers further information and help for self-help. In the USA there is an association that connects parents and their Progeria children across the individual states: www.progeriaresearch.org. The operators of this website also organize events at which the children concerned can meet around the world under the motto “Meet the kids”. These meetings can be very motivating and supportive for both patients and their families. The little progeria patients find friends there who suffer the same fate. Some of them become role models

In addition to the symptomatic treatment of the disease, it is advisable to protect the patient’s delicate skin from the sun and to apply cream regularly to keep it supple.