Progeria type 1, also known as Hutchinson-Gilford progeria syndrome, is a first-ever, albeit extremely rare, childhood disease. In very general terms, progeria can be described as a disease that causes the affected child to age at a rapid rate.
What is progeria type 1?
The name of the disease called progeria type 1 is derived from Greek, where “progeria” translates roughly as “early age.” Type 1, also called Hutchinson-Gilford syndrome (Jonathan Hutchinson and Hastings Gilford, the first two physicians to define infantile progeria), is limited to children only. 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, progeria type 1 is as rare as it is devastating, with an estimated incidence of 1 in 8,000,000.
Causes
The causes of progeria type 1 are, according to current scientific knowledge, genetic. To understand what causes the body to age at a rapid pace in affected individuals, one must consider the cellular level:
Sufferers of 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 the DNA, but the bases are incorrectly arranged in progeria type 1. As a result, the correct protein is no longer produced, and the walls of the cell nucleus are shapeless and sunken. This in turn impairs the quality of the genetic material and the process of cell division. Newly formed cells then function worse and worse, which accelerates the aging process enormously. It is suspected that this genetic defect is based on spontaneous mutations, since the parents of the affected children did not show any symptoms of progeria type 1, so there was no inheritance.
Symptoms, complaints, and signs
In Hutchinson-Gilford progeria syndrome, the first symptoms appear early. Affected children still appear healthy at the time of birth, but the first signs of the disease appear within the first year of life. It is striking that the children grow significantly slower than healthy peers. They suffer from short stature at an early age. Another characteristic symptom of progeria is rapid aging and premature senescence. This is noticeable by severe hair loss and dry, rough and thinning skin. As a result, the veins under the skin become visible. The skin on the head is particularly affected. Furthermore, affected children typically have a small face with a nose that resembles a bird’s beak. Affected individuals are particularly thin and bony due to a lack of subcutaneous fat tissue. A particularly light voice is also noticeable. Children with progeria often suffer from diseases that usually affect older people. Osteoporosis and arthrosis, for example, are common. More rarely, cardiovascular diseases also occur. In advanced progeria, heart attacks may even occur. Often, the affected children also have deformities or stiffening of the joints and bone fractures. They are not affected by other diseases such as cancer or dementia more often than healthy children.
Diagnosis and course
Because symptoms of progeria type 1 appear in the first few years of life, a diagnosis can be made quite early. The external conspicuousness of these symptoms alone is usually quite sufficient to diagnose progeria type 1 (Hutchinson-Gilford progeria syndrome) in the affected child. Only to be on the safe side, a genetic examination can bring complete certainty. However, the external characteristics of the disease are unmistakable: Children suffering from progeria type 1 remain short in stature and have only a thin physique. Typical symptoms of aging can be found in them, such as massive hair loss and rough, wrinkled skin. Bone loss, vascular disease and the loss of subcutaneous fatty tissue are also part of the picture with increasing age. Most sufferers then also die of a heart attack as a result of arterial occlusion. The course of progeria type 1 usually ends in death by pubertal age.
Complications
Progeria type 1 is a very serious disease.It already occurs in childhood and must be treated directly. Otherwise, the affected person will die. Patients with progeria type 1 suffer from very rapid premature aging. Especially for the relatives and the parents, this disease thus represents a strong psychological burden. For this reason, the parents may also suffer from psychological complaints or depression. The child suffers from 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, progeria type 1 leads to muscle atrophy and bone loss. Likewise, patients suffer from an increased risk of heart attack and may eventually die from it. Progeria type 1 cannot be treated causally. For this reason, only the symptoms are treated. With the help of various therapies, the symptoms can possibly be limited. However, the life expectancy of the affected person is significantly reduced and limited by the disease.
When should one go to the doctor?
Children who show peculiarities within the developmental process should be presented to a physician. Any abnormally rapid aging of the child should be immediately examined and treated by a physician. In most cases, the first abnormalities become apparent within the first year of life. Delayed growth in direct comparison to children of the same age should be discussed with a physician. Short stature manifests itself in many affected individuals. Hair loss, a change in skin appearance, senescence, or an appearance that resembles that of an adult must be clarified by a physician. A visit to the doctor is also necessary if there are disturbances in the heart rhythm or if visual changes develop in the face. A small face with a bird-like nose is characteristic of the disease and must be examined as soon as possible. A visit to the doctor is advisable as soon as the first abnormalities become apparent, as the disease leads to premature death of the affected person if left untreated. Short stature, malpositions or irregularities in joint activity are signs of a health disorder. Action is needed to prevent serious complications. Peculiarities of the musculoskeletal system, frequent bone fractures and a heart attack in childhood are alarming indications of an existing disease. A comprehensive examination is needed so that a diagnosis can be made and a treatment plan developed.
Treatment and therapy
Due to the fact that progeria type 1 is based on a genetic defect, it, like other genetic diseases, cannot be treated causally. The only thing that can be done for sufferers of this fateful disease are treatments to alleviate the complications that occur with progeria type 1. Physical therapies can be scheduled to strengthen the muscles and improve the mobility of sufferers. To keep the skin more supple, special lotions can be used. In addition, medications can also be prescribed to curb certain symptoms as much as possible. These include, for example, remedies for bone loss and vascular disease. However, due to the rarity of the disease, many drugs are still in the testing phase. Nevertheless, every possible measure should be taken to at least improve the quality of life of those affected by Progeria type 1.
Prevention
Unfortunately, progeria type 1 cannot be prevented. It is a purely random disease of the genome, resulting from spontaneous mutations, albeit highly rare. Heredity can be excluded in any case. However, nowadays there is a possibility to diagnose progeria type 1 by genetic testing even before birth.
Follow-up
There is no effective aftercare for progeria type 1, as the genetic disorder is also not treatable to date. Children who suffer from the disease must still go for regular checkups. During these examinations, the doctor in charge checks whether the child’s symptoms have worsened and what the general state of health is. Among other things, he tests how mobile the patient’s joints are and how sensitive the child is to pain.But also an examination of the blood circulation and the heart-lung functions is mandatory. Depending on the child’s physical condition, the symptoms are treated as far as possible. Physiotherapy tailored to the patient helps against the progressive stiffening of the joints. Special creams, lotions and regular baths are used to protect the sensitive skin. A healthy, balanced diet in conjunction with medication to prevent the formation of thromboses supports blood circulation. But psychological care for the child and his family is also very important. Since the children are often ostracized by their peers because of their illness, they should be given contact with other children in special therapy groups. Parents, on the other hand, should learn how to support their child in everyday life and also to let them forget that they are suffering from an incurable disease.
What you can do yourself
A child suffering from Progeria type 1 is in all likelihood dependent on the help of others throughout his or her life. This places an enormous physical and emotional burden on the parents. To compensate for it, the parents should undergo supportive, psychotherapeutic treatment. This also applies to the patients themselves, who may be bullied or ostracized. There are no direct self-help groups for people affected by progeria and their relatives; 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 where affected children from all over the world can meet under the motto “Meet the kids”. For both patients and their families, these meetings can be very motivating and supportive. The young progeria patients find friends there who suffer the same fate. Some of them become role models, as they are much older than the average prognosis would normally suggest. In addition to symptomatic treatment of the condition, it is recommended that patients protect their delicate skin from the sun and apply cream regularly to keep it supple.
