Treatment of Fabry disease Essay

In males with Fabry disease, the life expectancy is reduced by approx. 20 years and about 10-15 years in a female with the disease. In light of this, the enzyme replacement therapy should be given to patients of any age and gender (Vanja, et al., 2013). Fabry disease is predominantly affecting males, but females as a carrier of the defective gene of GLA are also commonly affected, as pointed out before.
Despite supportive treatments such as angiotensin receptor blockers and angiotensin converting enzyme (ACE) inhibitor, different types of painkillers, antidepressants, clopidogrel and acetylsalicylic acid the common treatment of Fabry disease is an enzyme replacement therapy (ERT) (Svensson, et al., 2015). Advancements of molecular genetic techniques had led to the development of the ERT Fabry disease patient. The ERT has been used since 2001, although the disease has been known for a long time, and the therapy method is authorized in Europe for Fabry disease patient regarding an organ involvement. Two different preparations for ERT is available, and it is used in both genders. The two forms are agalsidase alfa (Replagal Shire Human Genetic Therapies, Lexington, MA, USA) and agalsidase beta (Fabrazyme Genzyme, Cambridge, MA, USA). Both forms of the therapy are produced by expression of the GLA gene in modified human cells derived from fibroblasts and cells of Chinese hamster ovary. In some studies, they evaluate the efficiency of switch between the two forms of ERT, and it appears to be safe after 1 year of the follow-up period (Tasci, et al., 2015 Lin, et al., 2013). The treatment with the enzyme replacement expected to limit the tissue damage and slow down the process of development of end-stage illness of the affected organs. Even though the literature is not convincing, ERT may reduce or, at least, stabilize symptoms of the lung (Svensson, et al., 2015).
According to Danish guidelines, Fabry disease can be diagnosed by following some parameters. These factors are (1.) A low -galactosidase A activity in leukocytes and increased excretion of globotriaosylceramide in urine and (2.) Discovery of mutations in the GLA gene (Svensson, et al., 2015). A diagnosis of suspecting Fabry disease is achieved by different stages. In the case with the male patient a leukocyte -galactosidase A assay (enzyme activity is low or absent) will later be confirmed by molecular genetic analysis. In cases with a female patient, leukocyte enzyme activity can result in individual variability, ranging from normal to reduced values of the enzyme activity, the reason for that could be an inactivation of one of the X-chromosomes in the early stages of disease development, so a DNA analysis is required (Salviati, et al., 2010).
A detection of Fabry disease is difficult in females because of the heterogeneous presentation of the disease. Due to the heterogeneity of different symptoms, the diagnosis is generally missed.
In most females with Fabry disease, DNA sequencing is one of the first steps in the diagnosis process. The establishment is obligatory because the diagnosis is challenging in a female patient.