The terms Progeria Or progeroidal disorders are used to refer to a set of diseases which produce premature aging and / or Accelerated in children and adults (National Institutes of Health, 2015).
Although different pathologies have been described in the medical and scientific literature, the most frequent are Hutchinson-Gilford syndrome (HGPS) - infant clinical form - and Werner syndrome (SW) - adult clinical form (Sanjuanelo and Otero, 2010).
At the etiological level, disorders related to progeria are mainly related to genetic factors, that is, to mutations Specific.
Although the clinical course of this type of pathology varies, depending on the specific disease that the affected person has, all Characterized by the presence of physiological signs and symptoms of premature old age (Genetics Home reference, 2016).
Diagnosis is usually made based on the clinical characteristics compatible with deterioration and rapid aging and, on the other hand, the analysis Genetic confirmation (Progeria, 2013).
As for treatment, a cure for progerias has not yet been found, so all interventions are directed towards the treatment of Complications (Progeria, 2013).
In addition, the programs are associated with both a significant reduction in the quality of life expectancy and life expectancy, Rapid physical and cognitive impairment of the affected person.
Characteristics of progeria
As mentioned above, a group of pathologies characterized by the development of premature aging (National Institutes of Health, 2015).
Although the terms progeroidide or progeria are generally used, in some cases the latter is restricted to Hutchinson-Gilford disease, which specifically affects the child population (Ghosh and Zhou, 2014).
Aging in a biological process that is part of normal development, which is characterized by the development of different biological changes and Psychological factors related to the decline of physical and cognitive integrity (Assets, 2016).
Generally, the processes related to the aging begin to set in motion after reaching the maximum physical maturity, around 18-22 Years of age, however, these are not evident until later stages (Assets, 2016).
Therefore, in the absence of other types of pathologies, the external signs of aging are usually evident around 40 years of age, progressing Exponentially to advanced ages (Jaeger, 2011).
Thus, depending on the areas, the physical changes most related to aging usually cover the anomalies in the Sensory systems (Decreased visual acuity, auditory, gustatory and olfactory sensibility, etc.), organic systems (decreased muscle and bone mass, Reduction of cardiovascular and respiratory system efficiency, etc.) (Assets, 2016).
In this sense, in the presence of different genetic alterations, it is possible that all these physiological changes begin to present themselves During childhood, adolescence or adulthood, as is the case of progeroid disorders.
Frequency
Disorders of premature aging are not considered to be frequent medical conditions in the general population (Ghosh and Zhou, 2014).
Although not all the specific genetic factors are known, these pathologies are the product of genetic alterations, product of both the Hereditary transmission as de novo mutations (Ghosh and Zhou, 2014).
At the specific level, there are no statistical data on the prevalence and incidence of progeroid disorders as a whole.
What are the most common progeries?
Within this field different diseases related to premature aging have been described.
In this case, we will describe two of the most Frequent, related to the child and adult population: Hutchinson-Gilford syndrome (HGPS) - infant clinical form - and Werner syndrome (SW) - adult clinical form.
1- Hutchinson-Gilford Syndrome (HGPS)
Hutchinson's syndrome is a genetic disorder that causes accelerated aging in children from the first two years of life (May Clinic, 2014).
This pathology may appear in the medical literature referenced as:
- Hutchinson-Gilford progeria syndrome
- Hutchinson-Gilford Syndrome
- Syndrome Of premature aging
- Progress
- Child Progeria (National Organization for Rare Disorders, 2016)
Clinical features
Although the symptoms and clinical course of Hutchinson-Gilford syndrome can vary significantly among affected persons, there are Some common features in most cases (Mayo Clinic, 2014; National Organization for Rare Disorders, 2016):
Generally, children are born with no specific and obvious clinical features of this disease, however, around 24 months, ie, two years Of age, some signs begin to appear:
- Significant growth retardation : Weight and short stature.
- Facial appearance characteristic : Small face, underdeveloped jaw, dental malformation, prominent eyes, small nose and Bluish coloration in different facial areas.
- Alopecia : It is frequent that they lose the hair of the whole body, head brows, eyelashes, etc. In some cases, this is replaced by a Fragile hair with a light coloration.
- Organic Degeneration : It is also common to begin to develop pathologies related to the cardiac, hepatic or Skeletal muscle structure. It is common to identify, arteriosclerosis or reduction of bone and muscle mass, among others.
Frequency
It is a rare disease in the general population. In the year 2014, approximately 200 different cases had been described in the Medical literature (National Organization for Rare Disorders, 2016).
Specifically, it presents an approximate prevalence of one case per 4 million people worldwide (González Morán, 2014).
Causes
Different investigations have related all these medical characteristics with the presence of genetic alterations, related specifically to A mutation of the LMNA gene (Progeria Research Foundation, 2016).
Diagnosis
There are currently no diagnostic protocols that clearly indicate the presence of this pathology.
In general, this is based on the clinical characteristics of premature aging, through different laboratory tests, such as Radiological and histopathological evidence (González Morán, 2014).
In addition, a genetic study is recommended to confirm the presence of alterations related to specific mutations (González Morán, 2014).
On the other hand, it is important to carry out a continuous medical follow-up, since medical complications put the survival of Children affected.
Treatment
There is no cure for Hutchinson-Gilford syndrome. The treatment focuses on the symptoms and the improvement of the quality of life of those affected (Mayo Clinic, 2014):
- Low doses of aspirin : This type of drugs are used to reduce the probability of occurrence of heart attacks and strokes Cerebral, due to the deterioration of the circulatory system.
- Other drugs : Medical specialists may also prescribe another type of medication for the treatment of cholesterol or other Complications.
- Physical therapy : It is fundamental to perform physical activities, with the aim of maintaining muscle tone and independence Functional capacity of those affected.
Apart from this, the medical prognosis of those affected is not very encouraging, as the life expectancy usually does not exceed 13 years, however, There are cases in which it is between 7 and 27 years of age (González Morán, 2014).
In this sense, the most frequent cause of death are cardiac pathologies: myocardial infarction or congestive heart failure (González Morán, 2014).
2- Werner syndrome
He Werner's syndrome Is a disorder of genetic origin that results in an early and accelerated aging at an early age in the adult population (Oshima, Sidorova, Monnat, 2016).
Clinical features
Although Werner's syndrome presents a variable course at the clinical level, Labbé et al., 2012). The most common is that the first symptoms begin Be evident about the 30 or 40 years of age.
Thus, some of the most frequent signs and symptoms in Werner's syndrome include (National Organization for Rare Disorders, 2015, Sanjuanelo and Muñoz Otero, 2010):
- Waterfalls : The presence of opacity in the ocular lens and loss of visual acuity is one of the central findings of this pathology.
- Alopecia and Canicie : On the other hand, the progressive presence of gray hair or loss of hair is another of the most Significant at early ages.
- Skin regeneration : The exponential development of spots, discoloration, redness or ulcers, constitute another of the findings Frequent medical product of the generation of the layers of the skin.
- Bone and muscle degeneration : A significant loss of muscle mass usually occurs, followed by atrophy, loss of fat mass and that is. In many cases, these signs cause important skeletal muscle malformations and bone bills.
- Other medical complications : In many of the affected it is common to identify the development of diabetes, Hypogonadism , osteoporosis , Formation of tumors or other neurological and cardiac abnormalities.
Frequency
Like the previously described disease, Werner syndrome is considered a rare genetic pathology in the general population (Orphanet, 2012).
However, in this case, by the year 2002, some 1,300 cases had been identified in the medical literature (Sanjuanelo and Muñoz Otero, 2010).
At a specific level, it is estimated that its prevalence is approximately 1 case per 200,000 people (Genetics Home Reference, 2016).
Causes
In this case, the investigations relate the clinical characteristics of Werner's syndrome to the presence of a specific mutation of the WRN gene, Located on chromosome 8 (Genetics Home Reference, 2015).
Diagnosis
The diagnosis of Werner syndrome is usually made based on different criteria that refer fundamentally to the clinical characteristics Of this: cataracts, skin changes, gray hair, alopecia, etc. (Genetics Home Reference, 2015).
On the other hand, a complementary genetic examination is performed to identify possible genetic alterations compatible with the mutation described Previously (Genetics Home Reference, 2015).
Treatment
At present, there is no therapeutic program that is capable of curing this pathology and slowing the exponential progression of aging premature.
Classical approaches usually include symptomatic pharmacological and surgical therapy, accompanied by physical and occupational therapy to maintain the level of Independence of those affected.
In almost all cases of Wener's syndrome, it is estimated that life expectancy does not exceed 50 years of age, mainly due to the development of Medical complications such as myocardial infarctions, ictus Or malignant tumors (Gragera, Rojas and Salas Campo, 2006).
References
- ASSETS;. (2016). Unit 2. The process of aging and biological, psychological and social changes. ASSETS;. In Genetics & Development , 41-46.
- [Links] Hutchinson-Gilford Progeria Syndrome. Causes, research and pharmacological treatments. Chem. 432-439.
- Gragera, A., Fernandez Rojas, J., & Salas Campos, E. (2006). Adult Progeria (Werner's syndrome). Follow up of 2 cases from Primary Care. SEMERGEN, 410-414.
- Hyun, M., Choi, S., Stevnsner, T., & Ahn, B. (2016). The Caenorhabditis elegansWerner syndrome protein participates in DNA The Caenorhabditis ElegansWerner syndrome protein participates in DNA double-strand breaks. Cellular Signaling, 214-233.
- Jaeger, C. (2011). Physiology of aging. EMC.
- Labbé et al; . (2012). The Werner syndrome gene product (WRN): are pressor of hypoxia-inducible factor-1 activity. E X P ERIMENTALCELLRESEARCH, 1620-1632.
- Mayo Clinic. (2014). Progeria. Obtained from Mayo Clinic.
- NIH. (2015). Progeria.
- NIH. (2016). Werner syndrome. Retrieved from the Genetics Home Reference.
- NORD. (2015). Werner Syndrome. Retrieved from the National Organization for Rare Disorders.
- NORD. (2016). Hutchinson-Gilford Progeria. Retrieved from the National Organization for Rare Disorders.
- Orphanet. (2012). Werner's syndrome. Obtained from Orphanet.
- Oshima, J., Sidorova, J., & Monnat, R. (2016). Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Research Reviews.
- Pardo, R., & Castillo, S. (2002). Progeria. Obtained from Scielo.
- PRF. (2016). What is Progeria?
- Progeria. (2013). Progeria. Obtained from Progeria.es.
- Sanjuanelo, A., & Muñoz Otero, c. (2010). Atypical Werner syndrome: atypical progeroid syndrome. An Pediatr (Barc), 94-97.
- Yamamoto et al. (2015). A case of Werner's syndrome with cardiac syndrome X and heart failure with preserved ejection fraction. Journal of Cardiology Cases, 195-198.