DescriptionGaucher’s disease refers to a genetic disorder whereby glucocerebroside tends to accumulate in certain organs and cells. It is regarded as one of the metabolic disorders that is largely characterized by fatigue, bruising, anemia, low levels of blood platelets, as well as the liver and spleen enlargement (Grabowski & Future Medicine, 2013). The primary cause of this disease is via the hereditary deficiency of glucocerebrosidase enzyme that consequently act on glucocerebroside. In this case, accumulation of glucocerebroside is realized when there are defective enzymes especially in the white blood cells and macrophages. Glucocerebroside is inherently accumulates in liver, spleen, kidneys, brain, bone marrow, and lungs.
The manifestations of Gaucher’s disease comprise of enlarged liver and spleen, liver malfunction, skeletal disorder, painful bone lesions, swelling of adjacent joints and lymph nodes, severe neurological problems, distended abdomen, anemia, a brown skin tint, low levels of blood platelets, as well as yellow eye deposits (Grabowski & Future Medicine, 2013). The seriously affected individuals can also be prone to infection.
Types
There are various distinct types of Gaucher’s disease including Type 1, Type 2, and Type 3. Another term used to refer to Type 1 Gaucher’s disease is non-neuronopathic since it does not affect the spinal cord and the brain. The primary features for such condition comprises of mild and severe pains that may occur between adulthood and childhood. The main symptoms of Type 1 Gaucher disease encompass liver and spleen enlargement, lung disease, anemia, thrombocytopenia, as well as bone abnormalities including bone pains, arthritis, and fractures.
Types 3 and 2 Gaucher’s diseases are regarded as neuronopathic disorders since they are subsequently characterized by medical problems affecting the nervous system. Additionally, apart from the respective symptoms and signs described above, the disease can also be accompanied with seizures, brain damage, and abnormal eye movements. Type 2 disease often inflicts a life-threatening condition especially at the onset of infancy (Grabowski & Future Medicine, 2013). On the other hand, Type 3 Gaucher disease poses greater impacts on the central nervous system. This situation worsens gradually as compared to that of type 2.
Furthermore, it has been asserted that perinatal lethal is the most severe form of Gaucher disease. It is a condition that causes life-threatening or severe complications in infancy. The primary characteristics of perinatal lethal form encompasses extensive swelling enhanced by a dry and scaly skin; accumulation of fluid just before birth; hepatosplenomegaly; distinct facial features; as well as the serious neurological mishaps. As indicated by its name, a wide range of infants diagnosed with perinatal lethal Gaucher disease tends to survive shortly after birth.
The final type of Gaucher disease is termed as cardiovascular. It is a form of Gaucher that mainly affect the heart through the aspect of hardening subsequent valves or blood vessels. Individuals diagnosed with this kind of Gaucher disease are also accompanied with eye abnormalities, spleen enlargement (splenomegaly), and bone diseases.
Causes
The main cause of Gaucher’s disease is the aspect of recessive mutation with regards to the GBA. This is a chromosome 1 gene that affects both females and males. Individuals affected by Gaucher disease are endowed with low glucocerebrosidase. This is an enzyme that plays a role of breaking down a fatty body chemical known as the glucocerebroside. The Gaucher cells are thus termed as macrophages since they are often fully amassed with unprocessed glucocerebroside. They tend to primarily accumulate in the liver, bone marrow, and spleen, thereby causing organ dysfunction and inflammation. The Glucocerebrosidase deficiency often occurs since patients with Gaucher disease gets an abnormal or a mutated glucocerebrosidase from subsequent parents. The gene normally offers instructions on the manner glucocerebrosidase is made. Therefore, the body is incapable of producing enough enzymes due to the perspective of gene mutation.
Treatment
As much as a sure or permanent treatment of Gaucher’s disease has not been established, there are various interventions that tends to boost the effects of this disease. The established treatments of Gaucher’s disease greatly reduces its impacts and symptoms. In this case, there are two main forms of treatments that have been ascertained. These includes the aspects of SRT (substrate reduction therapy) and ERT (enzyme replacement therapy). ERT often works towards balancing the GCase enzyme levels using a modified enzyme version. It is a framework encompassing constant infusion of intravenous (IV) components. On the other hand, SRT varies from ERT because it tends to enhance the real problem resolution rather than the mere reduction of glucocerebroside (Grabowski & Future Medicine, 2013). This kind of medication is convenient as compared to ERT infusions because it is a readily available oral medication.
Part 2: Consultation with a Patient
After setting focus on the critical analysis of Gaucher disease, various patients should be kept on a limelight with regards to the effects, symptoms, treatments, causes, as well as the preventive measures of this disease. For this case, the patient who came on my view is an older female adult aged 62 year who was recently diagnosed with Gaucher disease. The patient sought my advice with regards to her situation since she was somehow confused and did not understood the nature and the preventive measures of this metabolic disorder. First and for most I had to engage the patient is an educative dialogue aimed towards updating her on the critical things regarding Gaucher disease. To this extent, as a professional, I had to go an extra mile of breaking down the concept and the reality behind this distinct disease to assist my patient to get an in-depth understanding of her nature and the measures that should be taken into consideration.
First and for most, the patient was informed on the main symptoms associated with Gaucher disease. The primary aim of doing so was to enlighten her on measures that should be undertaken to cope up with the disease. Since she is an older female adult, the most ultimate thing was to affirm her on Gaucher disease symptoms associated with older patients. This is because of the disparity between the effects posed on young infants and the older people. The patient was updated that the cause of this disease is via the hereditary deficiency of glucocerebrosidase enzyme that consequently act on glucocerebroside (Sinclair & UoV, 2001). To disseminate a clear understanding, the description of the symptoms and nature of this disease was backed-up by clear illustrations and previous examples regarding the patient that had been successfully handled.
Regarding the symptoms, the patient was interrogated and given insights on the prevailing symptoms that will be tasted to ascertain her health status. In this case, the signs that were put forward includes enlarged liver and spleen, liver malfunction, skeletal disorder, painful bone lesions, swelling of adjacent joints and lymph nodes, severe neurological problems, distended abdomen, anemia, a brown skin tint, low levels of blood platelets, as well as yellow eye deposits (Sinclair & UoV, 2001).
The patient will finally be advised on various treatments and preventive measures for handling Gaucher disease. Based on this, the patient was softly explained the reasons there is no sure or permanent treatment of Gaucher’s disease. Instead, she was clearly highlighted on various preventive and management measures that should be taken into consideration to reduce the vulnerability of this disease. In this case, she was clearly explained the main forms of treatments that have been ascertained. These included the aspects of SRT (substrate reduction therapy) and ERT (enzyme replacement therapy) (Sinclair & UoV, 2001). The two treatment frameworks were clearly figured out with regards to their level of effectiveness. It was finally concluded that the use of SRT was the most significant since it comprises of a readily available oral medication. This should be backed-up by constant physical exercises and stable diets.
Part 3: Recommendations for the Patient’s Diet
Good diet is one thing that is often recommended for the sake of enhancing appropriate health benefits. For people affected by Gaucher disease, various steps for managing and preventing the virility of this disease can be undertaken through a close view of adequate nutrition. It involves the perspective of ensuring a healthy lifestyle. It encompasses the perspective of adhering to a healthy diet. It may comprise a variety of vegetables, grains, fruits, as well as avoidance of unhealthy behaviors such as smoking. In addition, an individual diagnosed with Gaucher disease should indulge in screening tests and regular medical checkups. Depending on subsequent symptoms, a patient may require special medicine and diet for strengthening bones.
The need for appropriate diet is often inclined to the fact that Gaucher disease tends to hinder with the patient’s appetite. This is because the pronounced spleen or liver enlargement may frequently influence an individual’s appetite due to greater pressure exerted on his stomach. Individuals diagnosed with Gaucher disease usually report a sort of abnormal sensation of feeling satisfied even after only a few bites of any type of food. The main cause of this situation is that the enlarged organs tends to leave small room within the stomach cavity. Such patient thus take a much longer time to eat since their stomachs often fills up quickly (Sinclair & UoV, 2001). In this case, there is need of feeding them with soft and nutritious foodstuffs that can be quickly digested and absorbed with ease. Therefore, such patients affected by with digestive problems should shun away from the eating foods that enhances greater digestive complaints.
From the above viewpoint regarding the digestive systems and the overall health of Gaucher patient, it is deemed integral for such individuals to maintain a balanced diet. For instance, at times when these patient has low vitamin D and calcium levels, she should go to the extent of increasing their calcium intake as well as the vitamin supplements that will probably enhance the strengths of their bones. In this case, the most appropriate sources of such diet are the dairy products, spinach, fish, broccoli, seeds and nuts (Sinclair & UoV, 2001). For those diagnosed with the symptoms of anemia, they should increase the consumption of iron tablets in their diets. The most appropriate foods for boosting the iron levels include the whole grain cereals, spinach, pulses such as kidney beans and lentils, as well as the dried fruits. For those who tends to fill their stomachs quickly due to enlarged spleen or liver, there is need of consuming energy-laden food.
The Gaucher disease patients should therefore be conversant with the fact that maintenance of a balanced diet is a crucial remedy that ensure greater energy and strength for handling the daily stresses. It also assists in maintenance of a normal weight that helps in prevention of fatigue. On the other hand, the balanced diet will boost Gaucher patients because they have enhanced caloric requirements due to high metabolic rates. Hence, regardless of necessity for more food, the Gaucher patients with definite spleen and/or liver enlargement might be endowed with a rather suppressed appetite. For such patients; the vitamin or mineral supplements can be recommended for the sake of solving the issue of nutritional deficiencies affecting Gaucher patients, for instance, vitamin B12 and anemia deficiency (Grabowski & Future Medicine, 2013). With close adherence and consideration of appropriate nutrition and diet analyzed above, Gaucher patients will be in a position of managing the virility of the disease.
- Grabowski, G. A., & Future Medicine Ltd. (2013). Advances in Gaucher disease: Basic and clinical perspectives. London, England: Future Medicine Ltd (Unitec House, 2 Albert Place, London N3 1QB, UK.
- Sinclair, G. B., University of Victoria (B.C.)., & University of Victoria (B.C.). (2001). Mutation analysis, heterologous expression and characterization of human glucocerebrosidase.
