Free Research Paper About Niemann-Pike Diseases
Niemann-Pick Disease represents a group of inherited, genetic disorders, clinically referred to as leukodystrophies, which are more commonly known as lipid storage disorders. In each of the variations of the conditions all share one specific aspect in common, they cause lipids to not be properly metabolizes and inappropriately allows lipids, fats, to accumulate in different organs of the body, including the liver and brain. Over time this accumulations become severe enough that permanent damaged is caused (Kugler, 2014). This condition, due to its genetic origins, is inherited and is often a cause of serious health problems in new infants, young children, teens, or more rarely in adults. In many cases, the outcome of a diagnosis of Niemann-Pick disease results in a number of disabling and crippling side-effects, dependent on the type one is diagnosed, one of the most profound being death. Today we have been able to determine that these genetic conditions can be attributed to people carrying a certain genetic background. That said research continues to understand the nature, progression and future treatment is continuing to be pursued (Gabbey, 2012).While treatments and therapies have been applied to modern cases of this conditions, there is still as yet no cure for any of the diseases that fall under the umbrella of Niemann-Pick disease. Further research and dedication to understanding these diseases is the key to prevention, treatment, and, ideally, and eventual cure to this very serious condition.
Signs and Symptoms
The signs and symptoms of Niemann-Pick disease is incredibly varied, it is highly dependent on which type of the condition one is suffering. Symptoms may appear when an infant is few days old or into adulthood. Many of the signs and symptoms of Niemann-Pick disease are similar to the effects of many others, much more common, ailments so identifying and diagnosing the condition may take longer due to the rarity of the condition. This condition can affect both genders and, while primarily identified in infants, it can also affect children, teens and adults (Bauer, Balding & et. al., 2013). In infants the symptoms may include, abdominal swelling, difficulties eating, red eyes and motor skills that get progressively worse over time. In older children, the swelling may be present, but in a milder form. However, there are other severe symptoms that can occur and should be monitored, enlargements of internal organs, like the liver and spleen. Motor skill deficiencies, like slurred speech and clumsiness. There may, additionally, be loss of muscle tone, vision problems, hearing loss, seizures and tremors (Dugdale & et. al., 2012).
As mentioned, while all Niemann-Pick diseases involve excess lipid accumulation, there are a number of different types of Niemann-Pick disease that effect people of differing ages and involving different body organs and systems. Each of these different types is present in differing demographics, progress in differing ways and on differing timelines (Kugler, 2014). Niemann-Pike conditions are categorized as an autosomal recessive condition and lysosomal lipid storage disease, regardless, of the individual type, are serious conditions that are ending lives, generally, of the very young; Niemann-Pick is hugely disruptive to the homeostatic well-being of the sufferer (Schwartz, R. A., & et. al., (2014). The lipids being inappropriately stored are immediately damaging to the affected organs, causing multiple failures in the body’s normal function. That is what makes these differing forms of Niemann-Pick disease so threatening is that it, ultimately, turns the body against the patients, The Niemanm-Pick causes the dangerous lipid storage, which then leads to damage and accessory symptoms, resulting in organ failures, permanent neurological and mental damage, and in most cases an unpleasant death (Dugdale & et. al., 2012). Niemann-Pike is one of the most multi-symptomatic conditions that have proven to be difficult to gain an advantage over, but the medical and research community continues in order to educate and provide the best possible care. In order to understand the differing types of Niemann-Pick disease it is best to discuss each individually.
Type A: More than 85% of cases of Niemann-Pick are diagnoses of type A, which affects infants and toddlers, most commonly (Bauer, P., Balding, D. J., & et. al., (2013). This form of Niemann-Pick disease is believed to be caused by a deficiency of ASM or acid sphingomyelinase, which is required for the breakdown of fat cells called sphingomyelin. The needed enzyme levels in the patient may be less than 1% of what it should be normally. The sphingomyelinase continues to accumulate causing damage to cells and ultimately leading to an early death. Type A is all too often lethal, claiming lives of most children up to 2-years-old, but most lose their lives before they reach 18 months (Kugler, 2014).
Type B: Modern experts regard this type of Niemann-Pick is, essentially, as less severe case of Type A, as it involve the same enzyme. These young individuals suffer from the same deficiency. In Type B of the disease, the neurological aspects are not as pronounced or present at all (Good Start Genetics Organization, 2013). However, those with Type B tend possess more of the needed enzyme, manifesting in slower systems, however, if unaddressed and untreated the same lethal consequences can be experienced (Kugler, 2014). In Type B, many of the deaths, according to modern research, shows that the cause of death of those suffering from Type B is often pneumonia, cardiac arrest or total liver failure (McGovern , Lippa & et. al., 2013).
Type C: Type C is regarded as a lysosomal lipid storage disease that presents that can be identified as a mutation in NPC1 and NPC 2 gene. This type of Niemann-Pick disease is rare; it accounts for 1 in every 120,000 births. However, experts argue that that number may be conservative, because many cases of Type Niemann-Pick disease is missed due to other signs of other more common conditions (Mengel, Klünemann & et. al., 2013). Type C is present when the individual is unable to break down and transport cholesterol throughout the body. The excess lipids will then accumulate in organs like the liver and spleen, but, most dangerously, the brain. Serious nervous system disease is inevitable and most patients do not live past 20 years of age (Kugler, 2014). In many young patients the most severe symptoms, the neurological aspects, are often the slowest progressing and do not manifest until the child is a bit older
Type D: Type D is categorized in modern studies as a less severe form of Type C, manifesting many of the same symptoms but on a less severe scale and slower progression. However, once again, without treatment and monitoring the outcomes are lethal (Kugler, 2014).
Type E: This is the rarest of diagnoses, adult onset Niemann-Pick disease. This form presents with many of the same symptoms as any other sufferer, the signs and symptoms may involve immediate and remarked neurological and cognitive disability (Gabbey, 2012). The most common onset of symptoms is at, approximately, age 25 and in studies shown that the average time taken to receive accurate diagnosis is around 5 or 6 years. Finally, after diagnosis the average age of death for adult sufferers of Niemann-Pick is 38. The adult version of this condition, however rare does cause a definite and serious shortening of a lifespan (Sevin, Lesca, & et. al., 2006).
As mentioned previously, Niemann-Pick is a hereditary, genetic disorder that is passed from generation to generation. As with many disease traits, the genes for Niemann-Pick are autosomal recessive in nature. That said it means that if the mother and the father, both, carry the same recessive gene, it become mathematically certain, if they conceive a child, that there is a 50% chance of producing a child that carries only the recessive, a 25% chance of an offspring that is completely disease and carrier free, and finally a 25% chance that the child produced will carry both recessive factors of the disease and inevitably will develop Niemann-Pick disease (Dugdale & et. al., 2012).Today medicine can identify the nature and who within the population is most susceptible to inheriting such a serious condition as Niemann-Pick. The genetic demographic is diverse, Type A and B, again the most common, is most likely to be found in those with an ethnic history identifying them with Ashkenazi Jewish people. North Africans, from Morocco or Algeria, are most commonly going to carry the genes for Type B exclusively. Spanish American populations in New Mexico and Colorado are more likely to carry the genes for Type C. Lastly, Canadians of the Nova Scotia region, are most likely to carry the genes for Type D (Kugler, 2014). The reality is that there is much more research being conducted and needing to be conducted in order to approach treatment and therapies necessary to lead to more long-term solutions, like curing the condition all together.
In the case of the particular disorder prevention is not easy, but it is, also, not impossible. In the realm of today’s modern medicine there are more and more genetic tests available to help couple who wish to have children can identify the genes that could be problematic. This gives the individuals the change to decide if they want to take the risk of producing an offspring carrying or suffering from any form of Niemann-Pick disease. Ideally, such genetic testing could go a long way to limiting the likelihood of children being born with this serious condition. However, such tests can be incredibly costly, not all expecting couples are in the financial position to have such excessive tests conducted. That said without such tests then there is little way to prevent the inadvertent conception of children who will suffer from Niemann-Pick disease. Making such tests more available and less expensive would be a huge contributor to changing the future statistics of the prevalence of this serious genetic condition (Dugdale & et. al., 2012). In addition, there is current research being conducted that has identified the presence of a few other genes, that when defective are contributory to the genetic disorders identified as Niemann-Pick disease (National Institute of Neurological Disorders and Stroke, 2015).
In the case of Type A or B, enzymatic studies are necessary but take a long period to get results and many of the physicians will perform blood and bone marrow tests to determine the level of the deficiency of ASM that is present. In some cases it is possible to make an accessory correlation or confirmation with a liver biopsy, which can also give healthcare professionals the indication of the presence of Niemann-Pick Type A or B (Mohan, Siddique, & et. al., 2014). In the case of Type C an entirely different battery of tests may be conducted. The most common testing done for Type C involves taking a skin biopsy, which allows professionals to look at how the skin cells grow, how they move and how they absorb and use cholesterol. Many of the accessory symptoms like ataxia, gelastic cataplexy, dystonia, Dysarthria/dysphagia, hypotonia, hearing loss, and vision loss can and are indicative of many other conditions and are not exclusive to Niemann-Pick disease. However, this test is not the only options, and making the diagnosis of Type C is harder because narrowing the disease down, in some cases, can take years to confirm (Mengel, Klünemann & et. al., 2013)
Because of the variation of types and symptom affected by Niemann-Pick the treatment for the different versions will also be diverse. Depending on the type one is diagnosed it will determine what efforts can and will be taken to improve the sufferers quality and quantity of life. In the case of Type A of Niemann-Pick there is no cure and no specific treatment that will benefit the patients and death is somewhat imminent. Most children die from the disease and its accessory damage to the body and brain (National Institute of Neurological Disorders and Stroke, 2015). Type B, because it lacks much of neurological aspects, can be treated a bit more successfully, Bone marrow transplants, enzyme replacement procedures and gene therapies are being studied and do show potential benefits, but many of the applications are still being properly tested and the effectiveness of these therapies are still uncertain.
One drug called, miglustat, which is being used to treat the symptoms of Type C. Miglustat is an enzyme inhibitor that can prevent the body from producing fatty substance, in this case cholesterol, which eliminates the build up in the body tissues and organs (Gabbey, 2012). Many modern medical professionals are looking into approaches that will address the most severe symptoms, those that effect neurology, effects cognition, or manifest as mental illness. Getting these aspects under control will go a long way to find feasible treatment and ideally, a cure for all types of Niemann-Pick in the future (Sevin, Lesca, & et. al., 2006). Type D, however, as yet has no specific drug treatment, but placing the sufferer s on extremely low cholesterol diets can be beneficial. The key to finding the treatment that may show the greatest benefit is really significantly dependent on the quickness of achieving an absolute diagnosis, that said changes in diet, physical therapy and finding the right medications can help to improve quality and, in some cases, the quantity of life (Kugler, 2014). These facts apply to both the traditional childhood aspects, but, also, the form, Type E, which, again, specifically is diagnosed as a late onset version that develops in adults.
Professionals appear to agree that management in all cases, the primary goal, has become treating the sickness, as well as possible, the neurological and physical manifestations, because these can lead to the greatest disability. Niemann-Pick is an incurable disease and, while treatment, continue to be conducted and studied, the reality is that length of life for all of the patients is perpetually threatened and no current measurements exist to prevent death. That said monitoring one’s condition, maintaining whatever measures that is available, and watching for telltale signs of the diseases progression (Mengel, Klünemann, & et. al., 2013). Niemann-Pick is a serious condition that, as of the moment, will, ultimately, result in an early death and any maintenance implemented is about improving the quality if not necessarily the quantity of life.
Knowledge and education is one of the most significant aspects to managing anyone with a medical condition. Teaching people what exactly is meant by genetic diseases and the kind of progressive damage it they can do, Niemann-Pick is no exception. There are a number of resources be it educational materials about the disease, support group and charitable organizations dedicated to the study and maintenance of Niemann-Pick disease, including the Mount Sinai International Center for Type A and B Niemann-Pick Diseases, the National Institute of Child Health and Human Development at the National Institutes of Health, as well as, a number of support groups and counseling geared, not only to aiding the sufferers, but also the families that likely provide much of their daily care of Niemann-Pike sufferers (National Niemann-Pick Disease Foundation, 2009). One of the most significant contributors to those suffering from serious, incurable disease, like Niemann-Pick, is having a strong support structure and positive environments, which can meet the psychological needs of both the sufferers with symptoms and those who care for them.
After reviewing all of the available research and the medicinal facts regarding Niemann-Pike disease it is clear that it is a very serious disorder that is continuing to torment sufferers with its plethora of debilitating side-effects and is deserving of further research and consideration. Now, that humanity is learning more and more about the nature of genetic diseases and how to identify their existence, could have a huge impact on the statistics of this particular disease. Couple’s who know that their union could conceivably, due to their ethnic histories are at a greater risk, produce a child that may be diagnosed and lose their life may opt to have children another way, with donated DNA or adoption. Such consideration may also encourage the average person to become more aware of their own genetic heritage and what that means when it comes to the possibility of severe, life threatening diseases. Prevention can be achieved through making genetic testing, in potential cases, more available to everyone who may carry that risk factor once and for all. There is still a continuing need for finding effective medications that can treat Type A and how to benefit the sufferers of the remaining types. This is a disease that, more often than not, steals away the life of children, even in infancy, before they have a chance to even learn to walk or learn how to laugh. As with all diseases, addressing the problem and making positive change it is necessary to improve all screening measures, where earlier diagnosis can be made so that greater efforts can be taken to get the patient on the correct course of action and providing the greatest benefit until cures are developed and can be safely relied upon.
Bauer, P., Balding, D. J., & et. al., (2013). Genetic screening for niemann–pick disease type c in adults with neurological and psychiatric symptoms: findings from the zoom study. Transforming Human Genomics for a Sustainable Tomorrow, doi: doi: 10.1093/hmg/ddt284
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Sevin, M., Lesca, G., & et. al., (2006). The adult form of niemann–pick disease type c. Brain: A Journal of Neurology, 120-133.
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National Institute of Neurological Disorders and Stroke. (2015). Ninds: Niemann-pick disease . National Institute of Neurological Disorders and Stroke, 1. Retrieved from http://www.ninds.nih.gov/disorders/niemann/niemann.htm
National Niemann-Pick Disease Foundation. (2009). Niemann-pick disease overview - types a, b and c. NPD, 1. Retrieved from http://www.nnpdf.org/npdisease_01.html
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