Cystic Fibrosis Lung Transplantation - Research Paper Example

Cystic Fibrosis Lung Transplantation Kelly Page of Cincinnati Introduction Cystic Fibrosis is a genetic disease with no cure at this time. In the United States there are an estimated 30,000 individuals diagnosed with Cystic Fibrosis (“About cf,” 2014). Cystic Fibrosis (CF) is associated with issues of the pancreas, lungs, and gastrointestinal tract (Allen & Visner, 2007). There are several medications and airway clearance therapies available to treat Cystic Fibrosis. When the disease process advances to end-stage, one option available is bilateral lung transplantation. Cystic fibrosis is a common recessive disorder most affecting the white people with 1 in 2500 frequency. CF is inheritable and live threatening genetic disorder mostly experienced at the Northern European parts .To develop the disorder, one must inherit faulty gene from both of your parents this is by inheriting one set defective CFTR gene from the mother and the other from the father The disease is transmitted in a recessive way with chromosome 7. (Bush, 2006 ) It is caused due to anomaly in the cells producing mucus. A defect in CFTR gene causes the cystic fibrous, that alters the core function of the protein responsible of movement of salt and water in and out of body cells. (Komaroff, 2005)Through the scientific discovery transmembrane conductance regulator, called cystic fibrosis has greatly improved the understanding of the disorder and its diagnosis also showing the disease’s complexity. The study of the diseases started in 1946 but a fulgurating progress has been discovered in the recent years. (Hopkin, 2010). Cystic Fibrosis Cystic Fibrous is common inheritable genetic disease within the Caucasian people in the U.S.A. From the research done the disease affects mostly the Northern European ancestry, although it too experienced at the parts of Hispanics, Native Americans. and some African-American the genetically inheritable diseases is affecting about 1 person in 17,000 African American,1 in 31,000 Asian American and large population affected being 1 in 2,000 to 3,5000. Cystic Fibrosis is an inherited disease that causes severe damages to the lungs, liver, sex organs, sinuses, pancreases, intestines, and sinuses. The disease is characterized by the buildup of sticky, thick mucus. (Moss, 1991) Cystic Fibrosis is inherited diseases of the sweat glands and mucus. The mucus clogs the lungs as a result the breathing systems is affected and the mucus catalyze the growth of bacteria .Respiratory problem signs include breathlessness a stuffy nose, wheezing, a persistence in coughing and a decreased exercising ability as digestive problems have symptoms of severe constipation, poor weight and growth ,intestinal blockage and greasy tool with foul smell. (Giddings, 2009) Cystic Fibrous is inherited due to autosomal recessive pattern i.e. both gene types in each cells have mutations. The CFTR gene is responsible in causing Cystic Fibrous CFTR gene is involved by channeling negative charged particles called chloride into and out of cells. Besides, chlorides have the importance function of helping in the control of water in tissues that help the production of thin freely flowing mucus (Anne H. Thomson, 2008). CFTR causes Cystic Fibrous by affecting the daily functions of chloride that perform the function of water and chloride ions across cell membranes. As a result, the cells that line the passageways of the pancreases and lungs produce unusual sticky and thick mucus. With the thickness and the stickiness, they clog the airways and various ducts, causing the symptoms and characteristics of cystic fibrous. (Wickii Vigneswaran,2010) The disease is of challenge to many individual affected. It has no cure by the moment, but with the improved treatments and screening, most people with the disease are able to live to their 20s and 30s with some living to their 40s and 50 s compared to the past (before 1980) where diagnosed individual died at a very early age(children and teenagers). (S. Karger AG, 2001) Statement of the Problem Bilateral lung transplantation is complicated and has significant risks. For patients with Cystic Fibrosis, over 80 percent survive one year after the transplant, and over fifty percent survive five years after the transplant (“Lung transplantation,” 2012). There are also ethical issues pertaining to transplantation, especially for pediatric patients. “Data from the Cystic Fibrosis Registry show that death due to complications of lung transplantations is the second most common cause of death in CF patients.” (Hadjiliadis, 2007, p. 1224) Purpose of this Study “In cystic fibrosis (CF), life expectancy has greatly improved, and the median age now approaches 38 years.” (Loeve,et al., 2012, p. 1096). Although the success rate five years after transplantation needs to improve to optimize the benefits to the most individuals. LITERATURE REVIEW Cystic Fibrosis is a genetic disease with no cure at this time. It is an autosomal recessive disease; both parents must be carriers of the recessive cystic fibrosis transmembrane conductance regulator (CFTR) gene, to have a child with CF. The CFRT gene is located on chromosome 7. “This gene makes a protein that controls the movement of salt and water in and out of your body’s cells.” (“What causes Cystic Fibrosis,” 2013). In the United States there are an estimated 30,000 individuals diagnosed with Cystic Fibrosis (“About cf,” 2014). CF is the most fatal genetic disease in the Caucasian population (Thabut, Christie, Mal, Fournier, & Brugiere, 2013). CF is a complex disorder and affects many organs, but primarily affects the lungs and the gastrointestinal systems. The defective gene produces thick, sticky mucus in the lungs that can cause serious pulmonary infections and inflammation. The pancreas is also affected because enzymes are blocked and unable to absorb nutrients (“About cf,” 2014). Symptoms: The symptoms of cystic fibrosis include: frequent coughing, lung infections, salty skin, and failure to thrive, frequent fatty stools or constipation, wheezing or shortness of breath (“About cf,” 2014). If a patient exhibits these symptoms, their physician will order testing to confirm a diagnosis of cystic fibrosis. Testing: Newborn screenings are performed in every state and include testing for CF. Diagnosing of cystic fibrous is only done by a doctor using a sweat test. The test is initiated by triggering sweating on a small patch of skin on a leg. Sweat test measures the extent of salt in the sweat .Once the sweat test has been done and the results suggest that the sweat contains more salt than usual is a clear diagnosis of cystic fibrous. (D.K. Cooper, 2007)As for the kids the sweat test with diagnosed disease of cystic fibrous, contains two to five chloride ions times’ chloride ions than the normal amount of chloride. (Bush, 2006 ) A sweat chloride test is the definitive test to diagnose CF. Normal sweat chloride levels are 10-35 mmol/L. Patients with CF usually have a sweat chloride greater than 60 mmol/L(“The sweat test,” 2011). There are millions of carriers of cystic fibrosis that have no symptoms in the United States. Genetic testing can identify the carriers of the CF gene prior to having a child. To have an individual diagnosed with cystic fibrosis, both biological parents have to be carriers. They will have a defective or mutated CF gene from each parent, which will give them a dominant trait. Every time two carriers of CF have a baby there is a 25 percent chance that the baby will have CF, a 50 percent chance that the baby will be a carrier of the CF gene, a 25 percent chance that the baby will not have CF and will not be a carrier of the CF gene (“Testing for cystic fibrosis,” 2014). Cystic fibrous can also be diagnosed through genetic testing, new born screening and prenatal although they are simple and non-invasive. In addition, presence of cystic fibrous in the intestines can be performed to identify the presence of the disease. Newborn screening involves a test of the kids genetics and the blood to show whether the newborn ha faulty CFTR genes. (Monroe, 2001) Chest X-ray creates your chest’s pictures and its structures such as blood vessels, lungs, and heart. This will show whether the lungs are inflamed or they trap air. A sinus x ray is done to show CF complication of sinusitis. Lung function test is a test used to measure the amount of air one can breathe in and out, how good the lungs deliver oxygen to the blood and how fast air is breathe out by use of spirometer machine. From the measurements of FEV1 and FVC, they are compared with the normal birthing measurements your age to identify the lung problem. The bacteria causing the diseases can also be identified by a sputum culture from a sputum (spit) and identify if the mucoid pseudomonas bacteria is growing in it. (Bush, 2006 ) Prenatal screening is done to pregnant mother to identify if the foetus has Cystic Fibrous .the test include chorionic villus and amniocentesis. (D.K. Cooper, 2007) This is done by a doctor inserting a hollow needle through the abdominal wall to the uterus and sacks some fluids from the sac around the foetus .the fluid tested to show whether it contains the Cystic Fibrous causing gene CFTR. (Skach, 2002) Cystic Fibrous can also be diagnosed by having a cystic fibrous carrier testing .the test is used to identify the presence of the disease carrier as this cannot be identified in the normal symptoms and they can live without being affected by the diseases but then be inherited to their children. Thus, one with the CF carrier is identified with the presence of one faulty CFTR gene and one normal CFTR gene. The diagnosis of the disease is to be done through the trypsin and chymotrypsin that is used to identify the CF in symptomatic newborns and infants. The test can also be ordered along with fecal fat to evaluate parents and their children for pancreatic insufficiency. Treatment: There are numerous medications and airway clearance treatments currently available. Bronchodilators (Albuterol, Xopenex), mucolytics (Pulmozyme and hypertonic saline) thin the thick secretions, inhaled antibiotics, like Tobramycin, treat pseudomonas aeruginosa infection. Kalydeco is effective for a small amount of specific mutations (Therapies for cystic fibrosis, 2012). In conjunction with the medications, airway clearance is essential part of the treatment plan. There are several modalities that perform airway clearance: chest physical therapy or postural drainage and percussion, PEP (positive expiratory pressure), Oscillating PEP (Flutter, Acapella, Intrapulmonary Percussive Ventilation (IPV), and Cornet), Vest or Oscillator, huff coughing, active cycle breathing techniques, autogenic drainage, and exercise (Airway clearance techniques, n.d.). According to Flume, 2009, to improve compliance with airway clearance it is important to let the patient and caregiver choose which type of airway clearance they prefer. It is important that medications and airway clearance are performed daily to keep the lungs in optimal condition. Prognosis: Periodically CF patients require hospitalizations to receive more aggressive airway clearance and intravenous antibiotics. Pulmonary function tests are performed routinely to measure lung performance. There have been great improvements made to extend the life of CF patients due to advancements of medications. In the 1970s the average survival rate was mid-teens and as of 2006 it was 36.5 years (Allen & Visner, 2007). When patients do not survive the disease, 80 percent die due to respiratory disease (Liou, Adler, & Huang, 2005). Process involved in placing a patient on a transplant list Before being placed in a waiting list for a lung transplant there must a justification that no other treatment option is available for your condition. In addition, it must be confirmed that you are capable of enduring the complexity of transplanting. Being in the “transplanting list” means the patient’s names and other medical information such as Size and blood type, time waiting, Location, and Medical urgency are entered into the national database overseen by the United Network for Organ Sharing. Once the patient has been diagnosed with the disease and determines that lung transplanting is the best way of improving the patient’s wellness and health, the family members and the infected agree then the patients name and the clinical information in which the transplanting is to take place is registered with the United Network for Organ Sharing (UNOS). Before being at the waiting list the patient must be evaluated this is from the prior signing of the Evaluation Consent Form. The evaluation include tissue and blood typing, hearth inspection including Echocardiogram and Holter monitor, blood testing, Chest x –ray, Pulmonary function test and Complete physical exam. Second, Financial evaluation to understand the amount involved in transplanting, get a clear advice from the financial coordinator in understanding bills from hospitals, pharmacies, doctors and other involved stakeholders, discuss insurance coverage and benefits. Thirdly, social support that involve determining the potential of having adequate and stable immune system that can enable transplanting and lastly Psychology Evaluation done by a psychiatrist or psychologist to determine whether you will comply with the required treatment regimen before and after transplant. After all the process have been observed the eligible factor of lung transplant of being physically health is encouraged .and they are encouraged to remain under their local pulmonologists while waiting transplanting. Characteristics qualifying an individual with Cystic Fibrosis for a lung transplant. The demand of lung transplant is highly rising due to .thus a lung transplant is only done to patients who seem to have relatively high survival rate. For instance, an individual with lung cancer would not be considered as the cancer may spread to the transplanted lung again. Also patients whose Cystic Fibrosis has been identified would be administered into drugs as those in late stages would be considered for a lung transplant. Lung transplant being a complex surgery not every patient will be favorable for lung transplant as some body organs may not be compatible with the transplanted organs. Thus for a successful transplanting the donor and the recipient’s body organs need to be compatible. Some factors need to be taken into consideration such the blood type of the donor. For every lung transplant for a patient over the age of 12, a lung location score must be calculated to determine prior lung donor this is done by a lung allocation system. The e lung location system is calculated medical information like pulmonary artery pressure, diabetes, and pulmonary capillary wedge pressure, and age, oxygen at rest, functional status, PC02, forced vital capacity, and Body Mass Index (BMI). Transplantation: As the disease progresses to end-stage, the topic of bilateral lung transplantation will need to be discussed. It is the last option available to extend and improve the quality of their life, but it is aggressive and there are many complications. If the patient is interested in pursuing this option, they will be referred to a transplant facility. There will be numerous tests and evaluations to determine if they are acceptable candidate to receive a transplant if one would be available. Transplant Guidelines: Since transplantation is a complex process and an aggressive procedure, there are guidelines for referring a CF patient for lung transplantation. The FEV1 is less than 30 percent of predicted, PaCO2 is greater than 50 mmHg, and PaO2 is less than 55 mmHg on room air are standards for referring a patient to be evaluated at a transplant facility (Rosenblatt, 2009). The decreased PFT scores and the changes in the blood work results indicate worsening end stage illness. Lung Allocation Score: According to Egan et al. (2006) in 2000, the Organ Procurement and Transplantation Network (OPTN) reevaluated the organ transplantation allocation policies. A lung allocation subcommittee was formed and they created new allocation guidelines. A donor who was less than twelve years old organ is first offered to a recipient that is also less than twelve years old, if no one is compatible then it is offered to twelve to seventeen years old recipient, finally if no compatible recipient is available it will be offered to eighteen years and old recipients. The less than twelve years old recipients are prioritized by the length of time they have been on the list. A donor’s organ from a twelve to seventeen years old would initially be offered to a recipient that is also twelve to seventeen years old, if no recipient was avail it would then be offered to a less than twelve years old recipient, and if no recipient was compatible then it would be offered to a recipient that was eighteen years or older group. When an organ in available from an eighteen year old or older donor it is initially offered to a recipient twelve years and older, if no recipient is compatible, it will then be offered to less than twelve years old. Recipients that are twelve years old or older are prioritized by the lung allocation score, not the length of time on the waiting list (Egan et al., 2006). Evaluation Criteria: The protocol used at a Canadian transplant facility follows: It will be approximately one week to have the initial assessment with the transplant team. There will be numerous tests conducted to identify if the recipient is a candidate for a lung transplant. Some of the tests will involve the lungs, kidneys, and liver. There will also be evaluations with the transport team, social worker, and psychiatrist. Due to the large invasiveness of this surgery it is essential that the recipient have a stable support network. The transplant team will be evaluating if the recipient and their family to determine they have a stable financial and emotional support to assist them during the transplant. After the testing and evaluations are completed, the transplant team will consult with the potential recipient and discuss their discussion. Some applicants meet the qualifying criteria but their illness is not advanced enough for them to be placed on the waiting list for a lung transplant. The transplant team will monitor your condition over the next several months until they think you qualify to be placed on the transplant list. Some applicants meet the criteria and their illness is advanced to the point that they are placed on the transplant list. The approximate time that a recipient is on the transplant list is 6-18 months. The recipient will need to carry a pager or cell phone from the transplant facility at all times and they will need to live in close proximity of the transplant facility while waiting for a transplant (Vandemheen, Aaron, Poirier, Tullis, & O’Connor, 2010). Transplant Contraindications: There are several factors that would disqualify an individual from receiving a lung transplant. Hook and Lenderer (2012) found the following: “Malignancy in the last two years, with the exception of cutaneous squamous and basal cell tumors, untreatable advanced dysfunction of another major organ system, noncurable chronic extra pulmonary infection, including chronic active HBV, HCV, and HIV, significant chest wall or spinal deformity, documented no adherence or inability to follow through with medical therapy or office follow-up, or both, untreatable psychiatric or psychological condition associated with inability to cooperate or comply with medical therapy, absence of a consistent or reliable social support system, and substance addiction that is either active or within the last 6 months. ( p. 53)” Success rates: In one study that looked at post transplant survival rates, there were 473 patients that received lung transplants and 70 patients expired. At 3 months post transplant survival was 96.5%, at 6 months 93.3%, at 12 months 88.4%, and at 3 years 67.8% (Thabut et al., 2013). “However long-term survival after lung transplantation remains relatively poor overall, with only 50% to 60% 5-year survival in recent analyses, and complications of lung transplants are the second leading cause of death in patients with cystic fibrosis” (Dellon et al., 2009, p. 318). Since the first lung transplant done in Canada in Toronto 32 years ago and first bilateral lung transplant being on 1986, a number of subsequent transplants have grown. As per the Canadian Institute, for Health Information suggests that lung transplant has increased by 84% in between 1997 and 2006. However, between the same period 299 people died while waiting for a lung transplant. Lung transplanting can be a live saving surgery but can also turn out to be very dangerous to the patients who receive the transplanted lungs. Lung donors are screened prior to donation based on the present screening practices. However, the screening may fail to detect some infection that could be transplanted to the patient. Lung transplanting is a complex surgery with very risky complications. The most complication after the lung transplant is the damage of the immune system rejection; it may cause cancer and other infection (Hopkin, 2010). Lung transplant is an option for few individual with lung problem that is caused by cystic fibrosis. It involves removal of diseased lungs and replacing it with healthy lungs from a deceased donor. The survival rate can be measured by the time the patient survives after the transplant. Almost every person involved in transplanting experience reimplantation response which caused fluids fill the lungs due to interruption of the blood supply symptoms experienced by the disease include shortness of breath and coughing up blood. As from transplantation Network there were 1,800-lung transplant in united state. From Erin all day’s research it is only about 55 % of the patients who survive five years later after transplant. People with cystic fibrosis have similar survival rates as people with lung transplant for other health problems. (Orlando, 2013 ) The risk accompanied by the transplant can be influenced by the donors thus the specific laws have been put in place by the Center for Disease Control (CDC) to ensure safety in transplanting. Occasionally the donor’s may be available with history placing them at a high risk for viral infections each hepatitis B or C and HIV. (Stuart J. Youngner, 2004) Thus as the laws created by CDC the patients need to be informed of the donors history of non-medical drugs ,men who had sex with another man for the last 5 years, exposure to HIV infected blood in the past 12 parts. However, patients under transplant are always given drugs to take for the rest of the life. Liou (2001) found the following: “Infection with B. cepacia had the largest effect of any model variable for predicting 5-year survivorship. Cystic fibrosis patients with B. cepacia tend to have the poorest predicted 5-year survivorship and often are deemed ineligible for lung transplantation because of reports of poorer post-transplantation outcomes. (p.350)” Conclusion No matter the incurable status of the disease, treatment depends on the stage of the disease and the specific organ to be transplanted. However, scientists have come up with many ways of coping up with the situation by developing many survival chances Lung transplant being one of it nevertheless the risks accompanied by it. However, with the level of improvement in technology many lives have been saved from the transplantation and the earlier prevention or earlier diagnosis of the disease as this will help- the patient keen on drugs and body maintaining as this will. However, treatment can be used only to encounter the spread of the disorder and this can be done by regular exercises, use of antibiotics, salt supplements, having a well balanced diet high in kilojoules, fats and proteins and chest physiotherapy regular visits to major CF clinics in recommendable (Orenstein, 2004) References About cf. (2014). Retrieved from http://www.cff.org/AboutCF/ Allen, J., & Visner, G. (2007). Lung transplantation in cystic fibrosis-primum non nocere?. The New England Journal of Medicine, 357(21), 2186-2188. Anne H. Thomson, A. H. (2008). Cystic Fibrosis. Oxford University Press. Bush, A. (2006 ). Cystic Fibrosis in the 21st Century. Karger Medical and Scientific Publishers. Dellon, E. P., Shores, M. D., Nelson, K. I., Wolfe, J., Noah, T. L., & Hanson, L. C. (2009). Caregiver’s perspectives on decision making about lung transplantation in cystic fibrosis. Progress in Transplantation, 19(4), 318-325. D.K. Cooper, L. M. (2007). The Transplantation and Replacement of Thoracic Organs: The Present Status of Biological and Mechanical Replacement of the Heart and Lungs. Springer Science & Business Media. Egan, T. M., Murray, S., Bustami, R. T., Shearon, T. H., McCullough, K. P., Edwards, L. B., Coke, M. A., & Garrity, E. R. (2006). Development of the new lung allocation system in the united states. American Journal of Transplantation, 6(5), 1212-1227. doi: 10.1111/j.1600-6143.2006.01276.x Flume, P.A., Robinson, K.A., O’Sullivan, B.P., Finder, J.D., Vender, R.L., Willey-Courand, D., White, T.B. Marshall, B.C., and the Clinical Practice Guidelines for Pulmonary Therapies Committee (2009). Cystic fibrosis pulmonary guidelines: airway clearance therapies. Respiratory Care Journal, 54(4), 522-537. Giddings, S. ( 2009). Cystic Fibrosis. Infobase Publishing. Hadjiliadis, D. (2007). Special considerations for patients with cystic fibrosis undergoing lung transplantation. Chest, 131, 1224-1231. doi:10.1378/chest.06-1163. Hook, J. L., & Lederer, D. J. (2012). Selecting lung transplant candidates: where do current guidelines fall short? Expert Reviews Respiratory Medicine, 6(1):51-61. Doi:10.1586./ers.11.83 Hopkin, K. ( 2010). Understanding Cystic Fibrosis. Univ. Press of Mississippi. Komaroff, A. L. (2005). Harvard Medical School Family Health Guide. Simon and Schuster. Liou, T. G., Adler, F. R., & Huang, D. (2005). Use of lung transplantation survival models to refine patient selection in cystic fibrosis. American Journal of Respiratory and Critical Care Medicine, 171,1053-1059. doi:10.1164/rccm200407-900OC. Liou, T. G., Adler, F. R., FitzSimmons, S. C., Cahill, B. C., Hibbs, J. R., & Marshall, B. C. (2001). Predictive 5-year survivorship model of cystic fibrosis. American Journal of Epidemiology, 153(4), 354-352. doi: 10.1093/aje/153.4.345 Loeve, M., Hop, W., de Bruijne, M., van Hal, P., Robinson, P., Aitken, M., Dodd, J., & Tiddens, H. (2012). Chest computed tomography scores are predictive of survival in patients with cystic fibrosis awaiting lung transplantation. American Journal Respiratory Critical Care, 185(10), 1096-1103. doi: 10.1164/rccm.201111-2065OC. Lung transplantation. (2012). Retrieved from http://www.cff.org/treatments /Lung Transplantation/ Monroe, J. ( 2001). Cystic Fibrosis. Capstone. Moss, R. B. (1991). Cystic Fibrosis. Springer Science & Business Media. Orenstein, D. M. (2004). ystic Fibrosis: A Guide for Patient and Family. Lippincott Williams & Wilkins. Orlando, G. (2013 ). Regenerative Medicine Applications in Organ Transplantation. Academic Press. Rosenblatt, R. L., (2009). Lung Transplantation in cystic fibrosis. Respiratory Care Journal, 54(6), 777-787. S. Karger AG, K. (2001). Cystic Fibrosis: A State-of-the-Art Series. Karger Medical and Scientific Publishers,. Skach, W. R. (2002). Cystic Fibrosis[: Methods and Protocols. Springer Science & Business Media. Stuart J. Youngner, M. W. (2004). Transplanting Human Tissue: Ethics, Policy, and Practice. Oxford University Press. Testing for cystic fibrosis. (2014). Retrieved from http://www.cff.org/AboutCF/Testing/ Therapies for cystic fibrosis. (2012). Retrieved from http://www.cff.org/treatments/therapies The sweat test. (2011). Retrieved from http://www.cff.org/aboutcf/testing/sweattest/ Vandemheen, K. L., Aaron, S. D., Poirier, C., Tullis, E., & O’Connor, A. (2010). Development of a decision aid for adult cystic fibrosis patients considering referral for lung transplantation. Progress in Transplantation, 20(1), 81-87. What are the signs and symptoms of cystic fibrosis. (2013). Retrieved from http://www.nhlbi.nih.gov. What causes cystic fibrosis. (2013). Retrieved from http://nhlbi.nih.gov. Wickii Vigneswaran, E. G. (Apr 27, 2010). Lung Transplantation. CRC Press. Read More