Essay Example - Gaucher Disease

I. Abstract and Introduction

Gaucher disease (GD) is an autosomal rare genetic disorder. It is a lysosomal storage disorder that results from the inadequacy of the lysosomal enzyme glucocerebrosidase, a defect that causes glucosylceramide, a substrate of the lysosomal enzyme to accumulate in the macrophages (Stirnemann et al., 2017). The result of these defects emanates primarily from a mutation of the GBA1 gene. The disease was discovered in 1882 by Philippe C. E. Gaucher when he was 23 years old, on a six-year-old girl. The condition is involved with the spleen, bone marrow, and the liver, and thus affects the number of hemoglobin present in the blood. The phenotypic manifestations of the disease range depending on the type with mild symptoms such as the extrapyramidal syndromes being experienced in type 1 while severe symptoms such as hydrops fetalis being felt in type 2 Gaucher disease. The disease is a rare one, with incidences of 1/40,000 to 1/60,000 in born children (Stirnemann et al., 2017). The Ashkenazi Jews are, however, more susceptible to the disease with an incidence of 1/800 births. In 2013, for instance, the global prevalence of GD was 280 million people.

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II. Bio review

Gaucher disease manifests in three primary clinical forms, that is type 1 or alpha, type2 or beta and type 3. Type 1 Gaucher disease is the most common of the three and is mostly seen in the Ashkenazi Jews. It is a non-neuronopathic form of the Gaucher disease and therefore, does not involve any neurological reactions (Nagral, 2014). It can manifest in early infancy or late in adulthood. It affects other organs and is thus comorbid to diseases such as liver cirrhosis and pulmonary hypertension. Type 2 and 3 are neuronopathic, with type 2 being the most severe neoronopathic form of the Gaucher disease leading to the death of the victim by the age of two years. Type 2 GD is accompanied by Hydrops Congenital ichthyosis, while Cardiac and vascular calcifications accompany type 3. The clinical manifestation of the disease vary depending on the type, but the general signs include growth retardation, skeletal abnormalities, abdominal pain, and blood disorders. It also causes further complications such as Parkinson's disease, obstetric and gynecological disorders, and some types of cancers such as leukemia, lymphoma, and myeloma (Mayo Clinic, 2017). The risk factors for Gaucher disease are narrow, one of them being the genetic makeup of the parents. If both parents are carriers of the disease, there are high chances of suffering from the same. Another risk factor is the ethnic group of the victim, with the Ashkenazi Jews, Indians and Italians being particularly at risk.

III. Impact on Mankind

Gaucher disease affects men and women indiscriminately. The disease affects various aspects of human life. It first affects the quality of life of individuals. Type 2 Gaucher disease, for instance, caused the death of the patient by the time they reach two years old, and this significantly minimized the life quality of the patient. The Gaucher disease is also accompanied by other comorbid conditions and thus always putting the patient at risk of complications or even death. Ashkenazi Jews and other at-risk populations are often subjected to DNA tests and analysis before conception or during a pregnancy to determine whether the born child will be suffering from the disease. This process can be tasking more so to low-income families, and therefore, many of them would end up having babies with the disease. The condition can affect the skeletal system of the victim, and this could be a cause of alarm as it may result in disabilities or paralysis. This changes the social abilities of the victim. There are also economical costs.

IV. Therapies

There is no possible prevention of the Gaucher disease once both parents have the gene. However, specific treatments can minimize or eradicate the condition. Among them are the enzyme replacement therapy (ERT), gene therapy, and substrate reduction therapy.

Enzyme replacement therapy-Futerman & Zimran (2006) experimented on the remedies that could be done to repair the damaged enzymes. The conducted the purification of the glucocerebrosidase obtained from placental tissue of a human fetus and an afterward injection of the same to a victim of Gaucher disease. The outcome of this experiment was a significant reduction in the amount of glucocerebroside accumulation in the liver of the patients. Therefore, replacing the defect enzyme with a functioning one is a therapeutic measure towards the eradication of GD. The thrombocytopenia and anemia that the patients had as a result of GD similarly reduced. Enzyme replacement therapy was approved in 1991 in the United States by the food and drug administration.

Gene therapy- Gaucher disease is often involved with the bone marrow. Therefore, a bone marrow transplant can be used to treat patients with type 1 Gaucher. This ideology can also be used to transude a retroviral vector with a typical glucocerebrosidase DNA sequence. This transfer is administered to the progenitor and stem cells of the patient.

Substrate reduction therapy- this is a treatment aimed at reducing the amount of work done by the remaining functional enzymes. It is a pharmacotherapeutic measure that is orally administered. This treatment is recommended for people suffering from type 1 GD. It also aims at reducing the symptomatic manifestation of GD such as the decreasing enlarged spleen and liver as well as strengthening bones.

V. Cost of expense

The treatment of Gaucher disease is relatively expensive due to the rare nature of the disease. Enzyme replacement therapy utilizes pills such as the Cerezyme which costs up to $300,000 annually (Weisman, 2014). Cambridge biotech recently invented a new pill called the Genzyme that is projected to cost $310, 250 annually, with the 28-day dose costing up to $23,800 (Weisman, 2014). Apart from the personal expenditure on medication, governments also incur these expenses, more so when it comes to the purchasing of specialty pharmaceuticals which are drugs for rare diseases. Developed countries would spend up to $193 billion on such purchases.

VI. Law

As earlier stated, Gaucher disease is a genetic and thus hereditary disorder, and once both parents are carriers, the offspring cannot escape this fate. The late 20th century experienced a trend whereby many pharmaceutical companies and retailers refrained from making drugs for rare diseases such as Gaucher since they claimed the sales were not worth the research (Smith, 2005). Therefore, the Foods and Drugs Administration Act in 1983 changed this by creating the orphan drug act that aimed at cutting the tax on such research to encourage the production of such medicines.

VII. Conclusion

Genetic disease is often complex as they stem from within the human anatomy rather than being caused by external causes. Gauche disease is a rare genetic disease that affects the functioning of a lysosomal enzyme glucosylceramide, causing its accumulation at the macrophages. The disease affects people indiscriminately, with exceptions of genetics and race more so the Ashkenazi Jews. This disease affects the health, quality life, financial, and social life of the patients. The cost of treatment is also relatively high, and this thus calls for efforts to conduct more research to ensure the experience is less devastating.

References

Futerman A. & Zimran A. (2006). Gaucher disease. Taylor & Francis group.

Mayo clinic (2017). Gaucher disease. Retrieved from https://www.mayoclinic.org/diseases-conditions/gauchers-disease/symptoms-causes/syc-20355546

Nagral A. (2014). Gaucher disease. Journal of clinical and experimental hepatology, 4(1), 37-50. doi:10.1016/j.jceh.2014.02.005

Smith A. (2005). From orphan to blockbuster. CNN. Retrieved from https://money.cnn.com/2005/07/08/news/midcaps/orphan/index.html

Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Berger, M. G. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International journal of molecular sciences, 18(2), 441. Doi: 10.3390/ijms18020441

Weisman R. (2014). New Genzyme pill will cost patients $310,250 a year. Boston Globe. Retrieved from https://www.bostonglobe.com/business/2014/09/02/new-genzyme-pill-treat-rare-gaucher-disease-will-cost-patients-year/5thkIb587nKi7zRAb9GgxM/story.html