Introduction: Pathophysiology and Disease Process
Werner Syndrome, according to Beighton and Beighton (2012), is “A rare progressive disorder that is characterized by the dramatic appearance of unusually accelerated aging (progeria) features which are associated with normal aging.” This disorder is caused by WRN gene mutation because of abnormal Werner protein inherited from both parents. Individuals who have this disorder often experience normal growth until their puberty. In most cases, teenagers who have this disorder experience normal development and this makes it difficult to detect that they have a problem. However, the symptoms start manifesting themselves at the time they reach their twenties. It may start with loss or turning off the hair into a gray color, something that is often associated with the elderly.
As the diseases progress, their voices may become hoarse and sometimes they may even find it difficult in making normal speeches as would be expected of them. At this stage, the patient may start experiencing difficulties in undertaking some physically demanding tasks because of the weakening of the bones, muscles, and other body organs. This accelerated premature aging process affects almost all the organs and body parts. The skin would become thin and hardened and Kamath (2007) says that the patient may acquire a facial appearance often as being ‘bird-like’. As the disease progresses, the affected individual would develop abnormally thin legs and arms, a condition which is attributed to abnormal fat deposition (Pirzio, Pichierri & Franchitto, 2008). The median age of death for these people is 47 years which is often caused by cardiovascular complications or cancer. The following diagram shows how the abnormal gene is transferred from the carrier parents to the child.
Etiology and Incidence
Werner Syndrome is caused by mutations in WRN gene. WRN gene is responsible for provision of instructions used in producing Werner protein. This protein helps in the repair and maintenance of DNA. Alteration of WRN gene causes production of non-functional Werner protein that is not able to maintain the DNA as required. Moreover, this protein is disintegrated at a higher rate than is the case in normal cells. Sometimes the damaged DNA is allowed to accumulate which leads to impairment of cell activities (Pirzio, Pichierri & Franchitto, 2009). The impairment leads to some of the common symptoms associated with the disorder. According to Kamath (2007), Werner Syndrome has a global incident rate of about 1 in every 100,000 live births. However, there is a variation based on the regions. The incidence is high in Japan where it is estimated to be affecting 1 in every 20,000-40,000 live births. However, the United States of America has one of the least cases of this disease, estimated to be about 1 in every 200,000 births (Pirzio, Pichierri & Franchitto, 2008).
Clinical Manifestation
According to Salk, Fujiwara and Martin (2013), the clinical manifestation of this disorder may start to appear as early as at the age of six. However, in most of the cases the manifestations start at the end of the puberty. There are six cardinal symptoms of the disease. One of the common symptoms is graying of the hair prematurely which is sometimes associated with hair loss. The patient may have bilateral cataracts, a condition often associated with the elderly. Tightening of the skin or atrophied is another common characteristic among these patients. Another problem is the calcification of soft tissues which reduces their functionality. At advanced stages, the patient would develop sharp (bird-like) facial features because of the abnormality of the DNA. The patient would also develop abnormal hoarse voice. This disorder affects 1 in every 100,000 live births in the world, but there are regional variations as discussed above.
Diagnostic Evaluation
Sufferers of this disorder often inherit a copy of this abnormal gene from each of the parents, both of whom must have been carriers. They start displaying accelerated premature aging, which often begin soon after puberty, especially in the early twenties. The diagnosis of this disorder is often based on the six cardinal symptoms which have been discussed in the section above. Diagnosis can be done by evaluating the patient’s eyes, skin, hair, face, voice, and body structure. The symptoms may occur at varying rates in different patients. An ulcer which is very difficult to treat is another factor that may help doctors to conclude that one is suffering from this unique health condition. The abnormality of Werner protein reduces the potential of the skin cells to replicate normally to repair the damaged cells, making it difficult to treat ulcers among these patients. Imaging studies may be conducted to detect abnormal cells which are related to the disorder (Aggarwal & Kolodner, 2011). Ophthalmologist may monitor the possible development of cataracts while cardiologists may need to conduct X-ray tests to monitor performance of the heart.
Therapeutic Management
Once the diagnosis confirms that one has Werner Syndrome, it is always prudent to start offering immediate medical care. According to Aggarwal and Kolodner (2011), it is still not yet clear how the syndrome can be treated in order to eliminate its symptoms. That is why currently the therapeutic management of this disease only focuses on managing of specific symptoms that are seen in the patient. It means that therapeutic management of Werner Syndrome requires a closely coordinated effort from different specialists who will need to develop a comprehensive plan on how the patient will receive treatment (Aggarwal & Kolodner, 2011). Different people with this disorder start exhibiting different characteristics at different stages. The most important factor in the management of this disorder is to deal with each symptom as it occurs, giving special focus to those which are life-threatening.
Orthopedist will be needed to diagnose the patient’s skeleton, joints, muscles, and related tissues on a regular basis to ensure that abnormalities in these areas are detected early enough and dealt with as soon as they occur. This physician may also help the patient to be engaged in light exercises to strengthen the bones and muscles. However, before prescribing any form of exercise, the orthopedist will need to consult cardiologist to ensure that the heart is stable enough to sustain the needed exercise. The cardiologists will also be monitoring the condition of the heart to ensure that any potential threat is eliminated as soon as it is detected.
Ophthalmologists will need to monitor the condition of the eye to detect and offer appropriate medication to cataracts to protect the eyesight of the patient. Endocrinologist will also need to diagnose and treat any complications that may arise in the patient’s endocrine system. These patients are also prone to complications such as diabetes from which they need protection. Sometimes it may be necessary to manage tumors caused by the syndrome.
Nursing Management
Werner Syndrome is one of the medical conditions that remained mysterious for a long time because physicians could not understand the exact reasons that caused rapid premature aging. However, the causes of this disorder are not known, and measures needed to deal with its symptoms are clear. As nurses, it is necessary to know how to manage patients who are diagnosed of this disorder. The nursing team will need to organize intervention programs focused on early diagnosis of those with the disorder in order to eliminate cases where patients start medication when it is too late. The aim is to ensure that such patients get timely treatment in addressing symptoms such as cancer. The nursing team may also consider engaging in promotional activities to empower parents and the affected individuals so that they can be aware of their unique medical conditions instead of considering it a curse. Nurses may help improve their quality of life by helping them combat the symptoms and manage pain.
Nursing Care Plan
It is necessary to develop a nursing care plan that can help in guiding the nurses when handling these patients. The plan will be based on three NANDA-approved diagnoses which are Problem-focused Nursing Diagnosis, Health Promotion Nursing Diagnosis, and Risk Nursing Diagnosis (Pirzio, Pichierri & Franchitto, 2008). Under Problem-focused Nursing Diagnosis, the plan will be to evaluate if the manifestations or symptoms of this disorder in a given patient such as development of grey hair at a very tender age or any of the symptoms discussed in the section above. Under Health Promotion Nursing Theory, the nursing team will get directly in contact with individuals, families, and communities and create awareness among them about this disease so that they can know how to detect it early, a process that would lead to early diagnosis and intervention. Under Risk Nursing Diagnosis, the plan will be to inform the public, including those who are not affected, about their vulnerability to this disease. The team will inform them that if in their lineage someone had this disorder, then they may be at risk of developing the same, or passing it to their children. This way, they can always be ready to deal with the problem in case it arises.
Teaching Plan
Werner Syndrome is a disorder that needs a united effort of the individuals affected, their families, and the entire community to ensure that success is achieved. The society and affected individuals need to know that this is not a curse, but a normal health problem and should be treated as such. When designing the teaching plans for the individuals, families, and community, it is important to ensure that they understand how they can deal with this disorder in a practical context. The long-term educational needs will be to sensitize and empower the entire community so that they can know when one of them is suffering from this disorder based on the symptoms exhibited and what should be done to deal with the condition. This can be done using both mass and social media. Short-term needs will be to help individuals and their family members to know how to live positively with this disorder and how and when they need to seek medical attention, especially when they suspect that something is not going on well. The patients and their families will need to be given a step-by-step procedure on how to handle this condition effectively.
Conclusion
Werner Syndrome is a disorder that is characterized by rapid aging that often starts soon after puberty. It has been confirmed that this condition is caused by mutations in WRN gene. Treatment for this condition is yet to be found and currently health experts are only dealing with its symptoms. Nurses have a major role in sensitizing the public about this condition, and helping the affected individuals cope with it in a painless manner.
References
Aggarwal, M., & Kolodner, R. (2011). Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress. Proceedings of the National Academy of Sciences of the United States of America, 108(4), 1525–1530.
Beighton, P., & Beighton, G. (2012). The Man Behind the Syndrome. London: Springer London.
Kamath, A. (2007). Werner Syndrome Protein Interacts Functionally with Translesion DNA Polymerases. Proceedings of the National Academy of Sciences of the United States of America, 104(25), 10394–10399.
Pirzio, L., Pichierri, P., & Franchitto, A. (2008). Werner Syndrome Helicase Activity Is Essential in Maintaining Fragile Site Stability. The Journal of Cell Biology, 180(2), 305–314.
Pirzio, L., Pichierri, P., & Franchitto, A. (2009). Analysis of the Xenopus Werner Syndrome Protein in DNA Double-Strand Break Repair. The Journal of Cell Biology, 171(2), 217–227.
Salk, D., Fujiwara, Y., & Martin, G. M. (2013). Werner’s Syndrome and Human Aging. Boston, MA: Springer.