Fabry Disease
Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis. Knowing and identify...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Amaltea Medical Publishing House
2018-12-01
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| Series: | Romanian Journal of Neurology |
| Subjects: | |
| Online Access: | https://rjn.com.ro/articles/2018.4/RJN_2018_4_Art-05.pdf |
| _version_ | 1828111471615148032 |
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| author | Ioana Simina Barac Doru Flaviu Tomesc Adina Stan Vitalie Vacaras Fior Dafin Muresanu |
| author_facet | Ioana Simina Barac Doru Flaviu Tomesc Adina Stan Vitalie Vacaras Fior Dafin Muresanu |
| author_sort | Ioana Simina Barac |
| collection | DOAJ |
| description | Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis. Knowing and identifying the clinical signs suggestive for this disease makes it easier to initiate the methods needed for confirming this diagnosis. The introduction of enzyme replacement therapy from the onset, slows down the complications of the disease, improves the quality of life and reduces the emotional and mental burden caused by the clinical symptoms. The patient presented in the reported case received clinical explorations according to the data presented in the literature, confirming the diagnosis of Fabry disease, thus enabling to start the therapy as soon as possible and including the patient in the National Program for Fabry disease. Following enzyme replacement therapy, the clinical symptoms and the quality of life were improved. The emotional, mental and physical impact of this disease can be greatly reduced by knowing the clinical signs that allows for the diagnosis and early initiation of the treatment. |
| first_indexed | 2024-04-11T11:35:16Z |
| format | Article |
| id | doaj.art-fa1763a888124ae495407378bfa1e136 |
| institution | Directory Open Access Journal |
| issn | 1843-8148 2069-6094 |
| language | English |
| last_indexed | 2024-04-11T11:35:16Z |
| publishDate | 2018-12-01 |
| publisher | Amaltea Medical Publishing House |
| record_format | Article |
| series | Romanian Journal of Neurology |
| spelling | doaj.art-fa1763a888124ae495407378bfa1e1362022-12-22T04:26:00ZengAmaltea Medical Publishing HouseRomanian Journal of Neurology1843-81482069-60942018-12-0117420020310.37897/RJN.2018.4.5Fabry DiseaseIoana Simina Barac0Doru Flaviu Tomesc1Adina Stan2Vitalie Vacaras3Fior Dafin Muresanu4Neurology, Department no.10 – Neurosciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; County Clinical Emergency Hospital, 2nd Neurology Clinic, Cluj-Napoca, RomaniaNeurology, Department no.10 – Neurosciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; County Clinical Emergency Hospital, 2nd Neurology Clinic, Cluj-Napoca, RomaniaNeurology, Department no.10 – Neurosciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; County Clinical Emergency Hospital, 2nd Neurology Clinic, Cluj-Napoca, RomaniaNeurology, Department no.10 – Neurosciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; County Clinical Emergency Hospital, 2nd Neurology Clinic, Cluj-Napoca, RomaniaNeurology, Department no.10 – Neurosciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; County Clinical Emergency Hospital, 2nd Neurology Clinic, Cluj-Napoca, RomaniaFabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis. Knowing and identifying the clinical signs suggestive for this disease makes it easier to initiate the methods needed for confirming this diagnosis. The introduction of enzyme replacement therapy from the onset, slows down the complications of the disease, improves the quality of life and reduces the emotional and mental burden caused by the clinical symptoms. The patient presented in the reported case received clinical explorations according to the data presented in the literature, confirming the diagnosis of Fabry disease, thus enabling to start the therapy as soon as possible and including the patient in the National Program for Fabry disease. Following enzyme replacement therapy, the clinical symptoms and the quality of life were improved. The emotional, mental and physical impact of this disease can be greatly reduced by knowing the clinical signs that allows for the diagnosis and early initiation of the treatment.https://rjn.com.ro/articles/2018.4/RJN_2018_4_Art-05.pdffabry diseasediagnosistreatment |
| spellingShingle | Ioana Simina Barac Doru Flaviu Tomesc Adina Stan Vitalie Vacaras Fior Dafin Muresanu Fabry Disease Romanian Journal of Neurology fabry disease diagnosis treatment |
| title | Fabry Disease |
| title_full | Fabry Disease |
| title_fullStr | Fabry Disease |
| title_full_unstemmed | Fabry Disease |
| title_short | Fabry Disease |
| title_sort | fabry disease |
| topic | fabry disease diagnosis treatment |
| url | https://rjn.com.ro/articles/2018.4/RJN_2018_4_Art-05.pdf |
| work_keys_str_mv | AT ioanasiminabarac fabrydisease AT doruflaviutomesc fabrydisease AT adinastan fabrydisease AT vitalievacaras fabrydisease AT fiordafinmuresanu fabrydisease |