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Progeria is a genetic condition that causes children to age fast. The condition is also called the Hutchinson-Gilford syndrome. Progeria is a rare disease can lead to child mortality. Most children with the condition experience various complications and their life span is reduced. In most cases, children with the condition do not live past thirteen years after the disease’s onset. The disease manifests in both sexes equally.
This essay evaluates the disease epidemiology of the Progeria disease. Furthermore, this essay seeks to evaluate what factors lead to the development of the condition, and what treatment options are available. The essay also focuses on the arising issues with respect to the disease.
Progeria develops because of a gene mutation. The gene that leads to the progeria condition is known as gene LMNA. The LMNA gene enhances secretion of Lamin A protein. This protein facilitates the structural scaffolding that binds the cell nucleus together. The Lamin A protein makes the nucleus unstable. Thus, this cellular instability results to the premature aging in the Hutchinson-Gilford Syndrome (Porth, 48).
Children born with the condition appear normal at birth. The progeria condition begins to replicate the premature aging characteristics within the first 17-25 months after birth. The signs and symptoms presented by the condition include loss of body fat, growth failure, stiffness in the joints, stroke, heart disease, hip dislocation and generalized atherosclerosis. However, the normal features associated with natural aging, cataracts, and osteoarthritis, do not manifest in children with progeria.
The complication of the disease mostly occurs because of stroke or heart attack. Angioplasty and coronary artery surgery have failed to cure life threatening cardiovascular complications created by the progressive atherosclerosis. There are specific treatment or cure for the condition (Okines, Hayley, and Kerry, 20).
According to the Progeria Research Foundation, the disease never affects parent carriers of the gene mutation. Clinical observations reveal that the genetic mutation is present in almost all instances, but, it occurs where the sperm cell is about to undergo conception. Most progeria cases are found to arise from a single substitution of one base pair in the approximately 25, 000 DNA base pairs that together constitute the LMNA gene (El-Darouti, 76).
The LMNA gene codes for Lamin A and Lamin C play an essential role in the stabilizing of the inner membrane of the cell nucleus. In progeria cases, a mutation occurs in the LMNA gene causing it to produce an abnormal Lamin A protein. Therefore, the abnormal Lamin A protein destabilizes the cell’s nucleus membrane in a manner that harms the body tissues. The intense physical force on the cell’s nuclear membrane disrupts the body tissues. Thus, mot body tissues are affected by the abnormal gene mutation. For instance, tissues present in the musculoskeletal and cardiovascular systems are affected by the progeria condition (Hoeman, 89).
In order to assess whether your child has progeria condition, a Hutchinson-Gilford syndrome genetic test is available at acute primary care level in the United States of America. An early diagnosis of the condition enables medical practitioners to initiate early treatment options before the condition gets complicated. Children with other progeroid syndromes that are not progeria may suffer from genetic disease passed down in their families. However, for the progeria case the child with the genetic mutation experiences a change in the family genetic composition (Hoeman, 238).
Parents who have never had a child with the progeria condition before have low chances of having a child with the condition. On the other hand, parents who have had children diagnosed with the condition are likely to have another child with the condition. This is because of “mosaicism”, which is a condition that occurs when a parent has some genetic mutation for progeria present in their genes, but they do not replicate in their cells. There are testing options available to test whether parents have potential LMNA genetic changes that lead to the progeria disorder (El-Darouti, 81).
Although there are no treatment or cure options for progeria patients, new groundbreaking research shows the possibility of a treatment option for the disorder. A study by the National Institutes of Health researchers shows that there are solutions to the unknown link between progeria and the premature aging it causes. The findings simulate that there is a relationship between the toxic protein that causes progeria (progerin) and telomeres (Acton, 317).
Telomeres are proteins that protect the DNA ends within each cell until they wear out eventually, and the cells die (El-Darouti, 87). The research study concluded that in normal aging, dysfunctional telomeres stimulates the cells to secrete progerin. Progerin then causes the age-related cell damage in old adults. Therefore, there is a new research indication comparing the progeria premature aging to the normal aging process. The cure for the progeria condition has not been found, but the link between progerin and telomeres paves way for new researches (Hoeman, 302).
Available Treatment and Management plans for the Progeria Condition
Although there is not effective treatment therapy for the progeria condition, management therapy can enable the child live longer. These management plans include careful monitoring of the cerebrovascular and cardiovascular disease that present with progeria. Cerebrovascular atherosclerotic disease and the cardiovascular disease can be maintained through administering progeria patients with low doses of aspirin. Further, occupational and physical therapy is advised in order to engage the progeria patients with an active lifestyle. Medical practitioners can also use hydrotherapy to help the progeria patients in joint mobility and reducing the arthritis symptoms experienced by patients (El-Darouti, 98).
Moreover, progeria can also be maintained by provision of adequate nutritional intake for the patients. This is because most progeria patients show poor feeding habits. The provision for adequate nutritional intake includes placement of a gastrostomy tube in order to provide the children with enteral feeding. In cases where the patients are past nine years, consumption of foods rich in energy is recommended. Further, careful monitoring of the child’s nutrition and growth is also necessary (Acton, 298).
Medical practitioners may also provide growth hormones to decrease the patients’ catabolic demands and supplement weight gain. Consequently, the exposure of progeria fibroblasts to rapamycin (a macrolide antibiotic) enables the patients to reduce aging-related cellular pathways. Further, rapamycin enables the patients to reverse their nuclear blebbing, and it facilitates degradation of progerin (Acton, 310).
Studies also reveal that the use of farnesyltransferase inhibitors to correct the functional and structural nuclear defects. However, the use of the farnesyltransferase inhibitors in not proved to correct progeria abnormalities that result from the loss of normal Lamin A functions. A clinical trial of farnesyl transferase inhibitor (FTI) lonafarnib proved that the FTI could improve the bone mineral density and weight gain for progeria patients (Acton, 317).
Consequently, FTIs used in transgenic mouse models have showed possibility of the inhibitors to prevent cardiovascular complications that occur because of the progeria complication. Further, the FTI has also shown chances of improving the reversal of cutaneous manifestations of the phenotypic progeria features such as increased longevity. The use FTI-276 or a combination of pravastatin and zoledronic acid has been shown to improve the reversal of morphological nuclear abnormalities that are present in progeria patients (Sybert, 651).
Progeria cases are usually rare and this is reducing because of the available progeria tests that are available to mothers. These tests enable mothers who have tested positive for progeria mutations to engage in family planning practices that will enable them avoid delivering children with the condition. Further, children are now tested for progeria at an early age, which paves way for early management practices that improve the life span of the child. Moreover, progeria has reduced due to the research innovations such as development of an FTI lonafarnib that can partially reverse the condition with two and a half years of treatment (Sybert, 654). These new laboratory innovations have reduced the sereneness of the progeria disorder.
The above graph shows how use of management therapies improves the progeria sereneness among patients. The ongoing researches indicate future hope of establishing a progeria cure.
Increased mass education and improved patient care services have enabled progeria patients to achieve an active and prolonged life. The government should continue creating initiatives that facilitate rehabilitation of children with the progeria disorder.
Acton, Q A. Stem Cells: Advances in Research and Application. , 2012. Internet resource.
El-Darouti, Mohammad A. Challenging Cases in Dermatology. London: Springer, 2013. Internet resource.
Hoeman, Shirley P. Rehabilitation Nursing: Prevention, Intervention, and Outcomes. St. Louis, Mo: Mosby/Elsevier, 2008. Print.
Okines, Hayley, and Kerry Okines. Old Before My Time: Hayley Okines' Life with Progeria. Bedlinog: Accent, 2011. Internet resource.
Porth, Carol, and Carol Porth. Essentials of Pathophysiology: Concepts of Altered Health States. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins, 2011. Print.
Sybert, Virginia P. Genetic Skin Disorders. New York: Oxford University Press, 2010. Internet resource.
Graves’ disease is a medical condition that affects the thyroid glands. The disease is considered an autoimmune disorder, meaning it takes place after the immune system of the body by mistake attacks and ends up destroying the body tissues which are healthy. The effect of this condition leads to the thyroid glands enlarging and growing in size to twice its normal size. In some cases, the thyroid glands enlarge more than two times their normal size. It affects the eyes, heart, skin and even the nervous and circulatory system. The symptoms of the Graves disease are \similar to those of hyperthyroid symptoms (Moore, 2013). The effect of the disease on the female population is a percentage of only two. After childbirth, the conditions are very common in women. Research shows that the condition is common seven to eight times in women compared to males and children. Genetic factors hold eight percent of the risk of containing the drug. The diagnosis can be based on the preference and spread of symptoms.
The condition can also be classified as a type II non-cytotoxic hypersensitivity. The illness was first discovered and described by Sir Robert Graves, in the early nineteenth century. Graves’ disease is categorized as the most common thyroid problem in the United States. The condition can be classified as one of the leading causes of hyperthyroidism. Hyperthyroidism is a condition in which the thyroid gland excessively produces hormones beyond its normal activities. The hormone specifically that is produced in excess is the thyroid hormone. The condition is also referred to as an overactive thyroid gland. Before taking an in-depth look at the Graves disease, it is important for one first to understand what the thyroid gland is its location and also its functions.
The thyroid gland is among the categories of the largest endocrine glands. The thyroid gland is found in the neck and is below the thyroid cartilage. The thyroid gland has the responsibility of regulating the rate at which the body should make proteins, regulate the use of energy by the body and the sensitivity of the body to other hormones. The thyroid gland is also responsible for producing thyroid hormones. The principal thyroid hormone are, thyroxine, also referred to as tetraiodothyronine (T4), and triiodothyronine (T3). These two hormones (T3) and (T4) are synthesized from iodine and tyrosine (Zaidi, 2013). These two hormones are both in charge of the growth and rate of function for many parts of the body, whether they play a regulatory role. The thyroid also produces a hormone known as calcitonin, which is very essential in calcium homeostasis.
The thyroid-stimulating hormone (TSH) is in charge of the control of the output of hormones for the thyroid glands. The thyroid stimulating hormone (TSH) is produced by the pituitary glands, in specific the anterior pituitary. The hypothalamus produces the thyrotropin releasing hormone which regulates the anterior pituitary. The shape of the thyroid cartilage is responsible for the name thyroid gland. The thyroid gland takes the shape of a butterfly, and it has two cone shaped wings or lobes. The gland is covered with a thin fibrous sheath, which has an external and internal layer. To the anterior, the gland is covered with the pretracheal fascia and to the posterior it is covered with a carotid sheath, continuously. The effect of having too much thyroid hormone in the blood is that the body of an individual speeds up. However, when one has a low count of thyroid hormone in their blood, the body slows down in its activities and response.
The thyroid gland, the hypothalamus, and the pituitary gland work together and they all have a common goal. Their goal is to control the levels of the thyroid hormone in the body of a human. The three make sure that the level is not high and at the same time, not too low. The main work, however, of the three organs is carried out by the pituitary gland. The three organs work the way a thermostat controls the temperature in the room (Marie, 2009). The pituitary gland like the thermostat in the thermometer measures the level of thyroid hormones in the body. If the thyroid hormones count in the blood is low, the pituitary gland senses the need to raise the temperature as the thermostat would do. Therefore, it secretes excess thyroid stimulating hormone, passing impulse to the thyroid gland to produce more thyroid hormones. A hormone released by the thyroid gland is then released directly in the body of an individual.
Once the pituitary can test the levels of secretion of the thyroid hormones is at a normal level, the gland slows down its activities. The secretion of the thyroid stimulating hormone is reduced since the problem has been solved. However, when the pituitary gland senses that the count of thyroid hormones in the blood is high, the response is totally different from the first one. The pituitary gland reduces the production of the thyroid stimulating hormone (Moore, 2013). The effect of this reduction is that the secretion levels of thyroid hormone by the thyroid glands reduce also. This is because the thyroid stimulating hormone which passes impulse to the thyroid glands to produce hormones has been reduced.
Graves’ disease cannot be considered a life threatening condition, and if it is considered then it is in very rare conditions. The condition is prone to attack anyone but is more common in women before they arrive at the age of forty. The symptoms of the illness are as a result of direct and indirect effects of hyperthyroidism. There are a few symptoms that are not a result of hyperthyroidism, and they are goiter, Graves’ ophthalmopathy and pretibial myxedema. The three are caused by the effect of the illness itself on the immune systems of the affected individuals. The symptoms of the condition can cause general discomfort in the individual. However, there is no history of the disease causing long term adverse effects.
This is only the case is the patient receives adequate treatment and care. However in case the disease is not treated early enough, the effects to the patient would be long term and the result even be death in severe cases. The most common symptoms associated with the disease are anxiety and breast enlargement especially when it comes to men. These symptoms are more prevalent in younger patients. The patient can also experience double vision, difficulty breathing and exophthalmos. Exophthalmos is a condition where the eyes bulge out, anteriorly out of the orbit. The condition can either be bilateral, affecting one eye or unilateral, affecting both eyes. In Graves’ disease, it is more common to have both eyes bulging out which looks very scary. The cause of this condition is a result of deposition of the connective tissue orbit and extraocular muscles. If the situation is not controlled, the patient can experience difficulties while trying to sleep.
This is because the eyelids in most cases fail to close as a result of corneal damage and dryness. Another complication likely to occur as a result of this condition is the turning of the upper part of the eye red. Irritation is also experienced due to the increased friction when an individual is trying to blink. This process that causes the displacement of the eye if not treated can cause blindness in the long run. This is because the ophthalmic artery and the optic nerve are being compressed. The patient might also experience double vision as a result of the inflammation in the eyes getting out of hand. A patient who has Graves disease might also experience frequent bowel movements and fatigue. Goiter is also a possible symptom of an individual with the Graves disease.
The heartbeat of the individual might also end up being irregular. Another common symptom among patients who have the illness is that they may experience a fine tremor in their hands and fingers. For women, the disease might also cause them to experience a change in their menstrual cycles. In men, the condition might affect their libido and also cause erectile dysfunction. There is also a condition known as Graves’ dermopathy which is a result of the illness. Graves’ dermopathy is a skin condition, which results in the skin turning red and becomes swollen (Marie, 2009). The skin is usually on the top or shins of feet of the sick individual. In case the condition is not detected early enough, it may persist and getting rid of it might prove to be quite a challenge.
The patient might experience a loss in weight, even despite having healthy and normal eating habits. Diarrhea increased appetite and continuous sweating are also common symptoms of the condition. Heat intolerance is also common, and the patient’s skins end up experiencing skin warmth and moisture. One should see a doctor if they happen to possess these symptoms in order to be checked. The patient might need to seek for emergency care in case they experience heart-related signs. The heart-related signs might indicate, irregular of rapid heartbeat, and this should be cause for alarm. Some signs are, however, discovered only after further physical examination. These signs include an enlarged thyroid, hypertension and ventricular contractions which are premature.
Hyperthyroidism might also cause the patient to experience personality and behavioral changes. The changes might include depression, anxiety, mania, psychosis, and agitation. At this juncture, it is important to look at the causes behind the condition. Graves’ disease is caused by the dysfunction of the immune system of the body that is responsible for fighting diseases. A normal immune system produces antibodies that are designed in a way that their release is a target for a specific foreign substance, a virus or bacterium in the body (Zaidi, 2013). However, when the body notes that there is a Graves’ disease virus; it reacts in a completely different way. The body produces an antibody, which goes to a particular protein which is located on the surface cells of the thyroid.
The functions of the thyroid gland are under the control of the pituitary glands. The pituitary gland secretes the thyroid stimulating hormone which sends impulses to the thyroid glands. The pituitary gland is in charge of the control of the amount of thyroid hormones that can be released by the body. The antibody that the immune system produces on detection of the Graves’ disease virus in the body is referred to as the thyrotropin receptor antibody (TRAb). There is something very special about this antibody that is uncommon in all other antibodies. The thyrotropin receptor antibody (TRAb) has the capability to mimic the job of the pituitary gland. This means that the thyrotropin receptor antibody (TRAb) can control the amount of thyroid hormones that are released into the blood, just like pituitary gland.
The effect of the thyrotropin receptor antibody (TRAb) on the body is that it overrides the function of the pituitary gland. In short the TRAb takes control of the thyroid gland, and the pituitary gland seems to lose its control over the thyroid gland. Therefore, the result is the overproduction of thyroid hormones by the thyroid gland, hyperthyroidism. Hyperthyroidism is not healthy to the human body and affects a few normal body functions. The affected functions include menstrual cycles in women, body temperature, metabolism of the nutrients in order to create energy for the body, muscle strength and the heart and nervous systems. The impact of Graves’ disease might be spread and may eventually result in the reduction of the quality of life for the sick patient.
The cause of Graves’ ophthalmopathy has not yet been identified. However, the cause can be related to the release of the thyrotropin receptor antibody (TRAb) by the body. This antibody that is responsible for the thyroid dysfunction also seems to affect the tissues that surround the eyes. The activity of the antibody in the body of a human being is responsible for causing inflammation. The antibody also causes events of the immune system which result in the signs and symptoms of Graves' ophthalmopathy. The detection of Graves' ophthalmopathy may take place at the same time as hyperthyroidism. However, in some cases, the former might be detected a few months later after the latter.
The signs of symptoms of ophthalmopathy might occur even a few years before hyperthyroidism is detected. In some cases, it is possible for a patient to experience signs and symptoms of Graves' ophthalmopathy, in the absence of any traces of hyperthyroidism. Genetic conditions play a role in the spread of the disease. For example, if one identical twin contracts the Graves’ disease, then there is twenty percent chance that the other twin might also have the illness. Other than genetic factors, environmental factor like stress and depression might also cause one to contract the disease. Another factor that might onset the disease is pregnancy. This is because pregnancy affects the thyroid gland.
In most cases, research shows that women who contract the disease might have been pregnant in the previous twelve months. This is before the signs and symptoms of the disease could be detected, they were pregnant. The lifestyle of an individual also determines their chances of one contracting the condition. The illness is more prevalent in women than in men. The illness can cause problems for women and result in a complication while getting pregnant. Infection might also play a crucial role in the onset of the disease. However, there are no direct links to infection causing the illness directly. In most cases, if one’s family has a history of contracting autoimmune or thyroid diseases, then this increases their chances of contracting the illness. Patients who contract Graves’ disease might also have other autoimmune illnesses like Type 1 Diabetes, Lupus, Rheumatoid arthritis, Addison’s disease, Pernicious anemia, and Vitiligo.
The detection of the illness can be carried out through a number of tests. One of the tests that one might take is the thyroid function tests. A blood sample is taken from the individual and then sent to the lab. The tests carried out on the blood seek to establish if there is enough concentration of thyroid hormone (T4) and TSH. If the levels of thyroid hormones are high while the concentration of TSH is low, this is an indication of overactive thyroid. In some cases, especially if the patient has not started to portray any symptoms yet, then the screening of the thyroid function reveals mild overactive thyroid (Moore, 2013). In such a case, the doctor puts the patient under monitoring while still under treatment. This should continue until the patient can test positive for normal levels of thyroid hormone.
Radioactive Iodine uptake (RAIU) is used to determine how much iodine the thyroid takes. The iodine taken up the thyroid gland is very essential in the production of thyroid gland. If the patient portrays a high intake of iodine, then this means that the patient has Graves’ disease. The test is also very significant in ruling out other possible causes of overactive thyroid. Another test that can be used to identify whether an individual has the Graves’ disease is an antibody test. The antibody tests seek to establish whether the individual has any antibodies that result in Graves’ disease. During pregnancy, it becomes a little tricky to determine whether a pregnant woman has Graves’ disease. This is because the symptoms of Graves’ disease in a way are similar to pregnancy, for example, fatigue and heat intolerance. Another barrier is that during pregnancy, the doctors cannot use RAIU tests.
The treatment of the condition in the US is the Antithyroid medicine, which involves two drugs, Methimazole and Propylthiouracil. These two drugs have the effect of inhibiting the thyroid gland from production of too much thyroid hormone. The use of the drugs does not go past one or two years. Methimazole is more preferred in the treatment of pregnant women. In the treatment, Radioactive Iodine (RAI) can also be used. This treatment contains the swallowing of a pill that contains iodine which has the effect of radiation of the thyroid gland. The RAI destroys the thyroid cells to reduce the production rate of thyroid hormones. This is a cure to the overactive thyroid, but there is a consequence (Zaidi, 2013). The patient might be forced to consume thyroid hormone after the treatment for the rest of their lives order to fit the place of the thyroid hormone the body can no longer produce. Surgery is an option only in very serious cases, and it involves the taking off of all or part of the thyroid gland. The surgery like the RAI leaves the patient to take in thyroid hormones for the rest of their lives since the body cannot produce thyroid hormones any longer.
Marie, C. (2009). Life in the cave: Overcoming Grave's Disease. Mustang, Okla: Tate Pub.
Moore, E. A., & Moore, L. (2013). Advances in Graves' disease and other hyperthyroid disorders.
Zaidi, S. (2013). Graves' disease and hyperthyroidism: What you must know before they zap your thyroid with radioactive iodine : a groundbreaking, revolutionary and comprehensive approach. Camarillo, Calif: iComet Press.
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