Premature Aging: How Diagnosis Affects Life 

Posted onMay 13, 2021 in Medical news

TIME CHANGES OUR BODY AND BODY – this is a natural given. We learn to accept external age-related changes , not considering them as shortcomings – and, if desired, we correct them. But the main difficulty of aging is not related to appearance – with age, genetic mutations and adverse effects of the environment accumulate, diseases appear that reduce the quality of life and well-being. Today, people live long lives, and scientific advice on healthy living helps to stay active. But it happens that the body – from the outside and from the inside – is aging at an accelerated rate. This happens in Progeria, a rare genetic disorder, and some other conditions not well understood. We spoke to a geneticist, plastic surgeon and journalist who is facing accelerated skin aging.

What is Progeria

Progeria are characteristic changes in the skin and internal organs due to the accelerated aging of the body. This is an extremely rare genetic disorder that can be divided into two forms: childhood ( Hutchinson-Guildford syndrome ) and adult ( Werner syndrome ). The childhood form is associated with a mutation in the LMNA gene, which arose at the stage of intrauterine development. The LMNA gene encodes the protein lamin A, which plays an important role in the formation of the structure of the cell nucleus. In progeria, the protein does not perform its function, which ultimately leads to premature cell death. The methods of treatment of Progeria, based on the discovery of its genetic basis, are now being actively studied .

The incidence of childhood progeria is estimated at one case in four million newborns, around one hundred and thirty cases have been described worldwide. At the same time, a sharp growth retardation becomes noticeable in a child by the age of one year, tissues and organs develop incorrectly, and puberty does not occur. One of the main manifestations of the disease is severe atherosclerosis, which sharply increases the risk of developing heart and vascular diseases. Complications include myocardial infarction and stroke at a young age. In the adult form of the disease (Werner’s syndrome), the mutation does not occur for the first time, but is inherited. It is an autosomal recessive disorder, which means that the child must inherit one copy of the defective RECQL2 gene from each parent. This form is more common than children – about one person in two hundred thousand.

With progeria in adults, the body usually develops before the onset of puberty, in which there is no growth spurt , and the child remains short. After twenty years, there are such changes as gray hair, hair loss, the voice becomes hoarse, the skin becomes thinner – in medical textbooks you can find the term “bird’s face”. The progression of the disease is accompanied by the appearance of cataracts, type 2 diabetes mellitus, ulcerative skin lesions, osteoporosis and severe atherosclerosis. Patients with this form of the disease often develop multiple tumors, including rare ones. People with Werner’s syndrome usually live to be forty to fifty years old, the leading causes of death are complications of atherosclerosis and cancer.

According to the geneticist of the Atlas Medical Center Alexander Reznik, it is impossible to predict the childhood form of the disease. Since an adult is transmitted from parents – healthy carriers of the mutation – theoretically, its risk in an unborn child can be identified even at the stage of pregnancy planning. For this, genetic testing of both parents for mutations in the RECQL2 gene is carried out.

Collagen deficiency

With age , collagen synthesis decreases in the skin , it becomes less elastic, wrinkles and sagging appear. Mutations in different genes can lead to impaired collagen synthesis from birth – these conditions are found even in animals and can manifest themselves in different ways. With failure of different types of collagen are associated, e.g., osteogenesis imperfecta and Ehlers syndrome – Danlos . If it is the collagen of the skin that suffers, then the manifestations will affect primarily the appearance. Flaccid skin syndrome (aka elastolysis, or cutis laxa in Latin) occurs in about one in two million children. According to the Cutis Laxa Internationale association, 385 patients with this syndrome are known in the world – however, given that the map on the site does not reflect a single case in Russia, there are actually more of them.

There are many different types of elastolysis caused by genetic mutations, and the acquired form, the causes of which are unknown . Low elasticity of the skin can be isolated, or it can be accompanied by problems with ligaments, joints, heart or blood vessels. Plastic surgeon, doctor of medical sciences, professor Alexander Teplyashin says that an accurate diagnosis cannot always be established – and since we are talking about rare syndromes, there are times when a person comes with a unique set of manifestations. You also need to understand that the effect of aesthetic surgeries is not always sufficiently pronounced or stable: tissues with collagen deficiency are poorly held in place. New therapies are needed to stop or reverse the process leading to cutis laxa; for this, they begin to use, for example, stem cells, but so far in an experimental manner.

Journalist Victoria Askero-Dubovik said that not a single doctor made a final diagnosis. According to the results of many examinations, it turned out that all organ systems work in accordance with age, and the skin seems to be ahead of the rest of the body by tens of years: “ I began to notice changes in my appearance at school, the skin of my face and body looked much older than my years. There were deep wrinkles on the forehead and neck, and the skin sagged. But the doctors’ appointments were as usual, the test results were age-appropriate and age-appropriate, and the doctors were not worried about the appearance of the doctors.

I had an experience when I was invited to a program dedicated to the topic of premature aging syndrome. I agreed to participate only in the hope of finding out my exact diagnosis. People came to the program with real progeria, and I realized that this was not my case. My body works as usual: all my organs function in accordance with age. Doctors say that my case is unique – most likely, it is some kind of “anomaly in the development of the skin in the prenatal period.” I did a circular facelift and neck lift to bring the appearance more or less in line with real age, changed the bite and put veneers. At twenty I could have been given forty-five or fifty, now, at twenty-six, I look thirty. Everything went well, the effect remains. “

As a child, they were teased by an old woman “

According to Victoria, she did not face bullying about her appearance and never perceived it as a reason for upset: “My mother was raised by deaf and dumb parents, and I think this is a much more amazing story. Of course, it happened that someone shouted nasty things after me – but these are isolated cases that did not lead to complexes. Many of my friends are beautiful girls who have model looks. It happens that they begin to tell me about their complexes, about the “imperfect” body, about the fact that they cannot find a match for themselves – this sincerely amazes me. I have never encountered such problems. I accepted and loved myself for who I am. And I tried to change what I was not particularly happy with ”.

Unfortunately, not everyone who is faced with accelerated aging is easy to accept themselves, and society does not contribute to this: people with Progeria regularly fall into the ratings of the “ugliest in the world” for some reason, and stories about the successful use of new types of therapy come out with headlines like “Doctors saved an old girl ”. Frenchwoman Tiefenne says that the most difficult thing in this disease is the views of others and the fact that you, in fact, do not have childhood and adolescence, you inadvertently find yourself in the world of adults. “As a child, I was teased by an old woman, a grandmother, a witch … With age, the jokes became thinner, but did not cease to be offensive. I’m not sure people understand how painful they can be with their questions. “

Because premature aging syndromes are rare, healthcare professionals are also poorly aware of them. According to the same Tiefenn, all her childhood she was sent from one doctor to another, but they could not say anything definite. On the website of the Cutis Laxa Internationale Association, many say that their children could not be diagnosed for a long time, and they did not even suspect the existence of other people with this condition. The association has created a closed support group for people with elastosis. The study of this disease is actively pursued at the University of Pittsburgh – understanding the mutations that can cause it, will help develop diagnostic methods and potentially treatment.

As of March 31, 2019, there were 157 children with Progeria in the world . The Progeria Research Foundation is the main organization working on this issue. The foundation was founded in 1999 by the parents of a boy named Sam, who faced a complete lack of information on the topic. In the foundation’s brochure for parents and caregivers with this condition, a separate chapter is devoted to how to behave with a child and deal with other people’s views, questions and comments – as one parent notes, “from the very beginning we were no longer worried the medical side of the issue, but the psychological and emotional comfort of our child. ” In addition to the many technical recommendations for the care of the eyes, skin, oral cavity, the emphasis is on the fact that the intelligence of children with Progeria is age appropriate, and the kidneys, liver, gastrointestinal tract and immunity are working normally.

In Europe, patients and their families are supported by the Progeria Family Circle . In 2011, a book was published by Hayley Oakins, a girl with progeria, who at that time was thirteen years old. On the TED website, you can find a talk by Sam , the very boy whose parents founded the Progeria Research Foundation, recorded in October 2013, three months before his death.

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