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Fabry dissase from the dentist view
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Vesna Ambarkova *   1, Arjeta Sulejmani2 , Tina Krmzova , Zoran Nonkulovski |
1- University St. Cyril and Methodius, Faculty of Dental Medicine, Department of Paediatric and Preventive Dentistry, Skopje, Republic of North Macedonia , vesna.ambarkova@gmail.com
2- kindergarten OJUDG Mladost-Tetovo |
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Abstract: (8797 Views) |
Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death occurs in the fourth or fifth decade of life. The development of the disease and the onset of symptoms are entirely individual: they are unpredictable and often depend on hereditary predisposition.
Very often a child or adult with these symptoms visits 7 to 10 different specialists before being properly diagnosed, although the fact that early diagnosis is the key of successful treatment. Early recognition of a person with Morbus Fabry is very important, because as soon as patients start to be treated with appropriate therapy the damage of the internal organs is prevented. Enzyme replacement therapy (ERT) as a specific therapy for this disease was introduced in 2001 and is obtained by use of in vitro prepared alpha-galactosidase A. The interdisciplinary team of dental specialists in collaboration with medical doctors must be included in the dental treatment of patients with Fabry disease. They have to work together in order to improve oral health-related quality of life of patients with Fabry disease.
Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death occurs in the fourth or fifth decade of life. The development of the disease and the onset of symptoms are entirely individual: they are unpredictable and often depend on hereditary predisposition.
Very often a child or adult with these symptoms visits 7 to 10 different specialists before being properly diagnosed, although the fact that early diagnosis is the key of successful treatment. Early recognition of a person with Morbus Fabry is very important, because as soon as patients start to be treated with appropriate therapy the damage of the internal organs is prevented. Enzyme replacement therapy (ERT) as a specific therapy for this disease was introduced in 2001 and is obtained by use of in vitro prepared alpha-galactosidase A. The interdisciplinary team of dental specialists in collaboration with medical doctors must be included in the dental treatment of patients with Fabry disease. They have to work together in order to improve oral health-related quality of life of patients with Fabry disease.v
Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death occurs in the fourth or fifth decade of life. The development of the disease and the onset of symptoms are entirely individual: they are unpredictable and often depend on hereditary predisposition.
Very often a child or adult with these symptoms visits 7 to 10 different specialists before being properly diagnosed, although the fact that early diagnosis is the key of successful treatment. Early recognition of a person with Morbus Fabry is very important, because as soon as patients start to be treated with appropriate therapy the damage of the internal organs is prevented. Enzyme replacement therapy (ERT) as a specific therapy for this disease was introduced in 2001 and is obtained by use of in vitro prepared alpha-galactosidase A. The interdisciplinary team of dental specialists in collaboration with medical doctors must be included in the dental treatment of patients with Fabry disease. They have to work together in order to improve oral health-related quality of life of patients with Fabry disease.
Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death occurs in the fourth or fifth decade of life. The development of the disease and the onset of symptoms are entirely individual: they are unpredictable and often depend on hereditary predisposition.
Very often a child or adult with these symptoms visits 7 to 10 different specialists before being properly diagnosed, although the fact that early diagnosis is the key of successful treatment. Early recognition of a person with Morbus Fabry is very important, because as soon as patients start to be treated with appropriate therapy the damage of the internal organs is prevented. Enzyme replacement therapy (ERT) as a specific therapy for this disease was introduced in 2001 and is obtained by use of in vitro prepared alpha-galactosidase A. The interdisciplinary team of dental specialists in collaboration with medical doctors must be included in the dental treatment of patients with Fabry disease. They have to work together in order to improve oral health-related quality of life of patients with Fabry disease. |
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| Keywords: Fabry disease, Oral manifestations, Rare diseases, Interdisciplinary dentistry. |
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Type of Study: Mini Review |
Subject:
Genetics & Disease
Received: 2021/01/31 | Accepted: 2021/02/17 | Published: 2021/02/17
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