Clinical course and management of fabry disease in three patients before the introduction of enzyme replacement therapy
Abstract
Background: Fabry disease (FD) is an X-linked inherited disorder of glycosphingolipids metabolism. Clinical manifestations, the course and the cause of death are markedly different among the patients. Before the use of enzyme replacement therapy patients with FD died early in their life.
Methods: Following the medical recordings, in this paper the clinical courses and causes of death are described for three patients with FD who died before the introduction of the enzyme replacement therapy.
Results: Although three patients were brothers and had the same gene mutation, the clinical manifestations of FD were completly different in each of patient. The first had early neurogical symptoms, the second problems with heart and the third had early deterioration of renal function. They died early despite all possible therapeutic measurements.
Conclusions: Early recognition of FD is extremely important. Nowadays it is possible to prevent the fatal complications and early death by means of modern effective enzyme replacement therapy.
Downloads
References
Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Baudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill; 2001. p. 3733–74.
Von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EGJ, et al. An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N Engl J Med 1991; 342: 395–9.
Sawada K, Mizoguchi K, Hishida A, Kaneko E, Koide Y, Nishimura K, Kimura M. Point mutation in the α-galactosidase A gene of atypical Fabry disease with only nephropathy. Clin Nephrol 1996; 45: 289–94.
Whybra C, Wendrich K, Ries M, Gal A, Beck M. Clinical manifestation in female Fabry disease patients. Contrib Nephrol 2001; 136: 245–50.
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38: 769–75.
Akšam N, Angelski R. Morbus Fabry. Vonosanitet Pregl 1982; 39: 118–20.
Čeh M, Perkovič T, Hvala A, Jaki P, Luzar B, Ferluga D. Fabryjeva bolezen – prikaz dveh primerov. In: Slovenski nefrološki kongres z mednarodno udeležbo. Ljubljana: Klinični center. Nefrološka klinika; 1996. p. 28.
Verovnik F. Fabryjeva bolezen – pomanjkanje α-galaktozidaze A – problem različnih vej medicine. Zdrav Vestn 2000; 69: 339– 44.
Kotnik J, Kotnik F, Desnick RJ. Fabry disease. A case report. Acta Dermatovenerol Alp Panonica Adriat 2005; 14: 15–9.
Verovnik F, Benko D, Vujkovac B, Linthorst GE. Remarkable variability in renal disease in a large Slovenian family with Fabry disease. Eur J Human Gen 2004; 12: 678–81.
Verovnik F, Benko D, Vujkovac B. Spremembe na srcu pri bolnikih s Fabryjevo boleznijo v Sloveniji. Slov Kardiol 2005; 2: 30–4.
Vujkovac B, Verovnik F, Benko D, Cokan A. Nadomestno encimsko zdravljenje Fabryjeve bolezni – naše izkušnje. In: Zbornik predavanj. Ljubljana: Slovensko zdravniško društvo, Združenje internistov; 2004. p. 209–11.
Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994; 3: 103–11.
Elleder M. Sequelae of storage in Fabry disease-pathology and comparision with other lysosomal storage diseases. Acta Paediatr Suppl 2003; 92: 46–53.
Linhart A, Lubanda JC, Paleček T, Bultas D, Karetova D, Ledvinova J, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001; 24 Suppl II: 75–83.
Case 2-1984. Fabry’s disease. N Engl J Med 1984; 310: 1607.
Moore DF, Scott LT, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, et al. Regional cerebral hypoperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001; 104: 1506–12.
Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005; 64: 2148–50.
Wilcox WR, Banikazemi M, Guffon N, et al. International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004; 75: 65–74.
Pastores GM, Thadhani R. Enzyme-replacement therapy for Anderson-Fabry disease. Lancet 2001; 358: 601–3.
Schiffmann R, Rapkiewicz A, Abu-Asab M, Ries M, Askari H, Tsokos M, Quezado M. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Vircows Arch 2005 Nov 29; 1–7 (Epub ahead of print).
The Author transfers to the Publisher (Zdravniški vestnik/Slovenian Medical Journal) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP.
The aforementioned rights are transferred non-exclusively, for an unlimited number of editions, for the term of the statutory
The Author can make use of his work himself or transfer subjective rights to others only after 3 months from date of first publishing in the journal Zdravniški vestnik/Slovenian Medical Journal.
The Publisher (Zdravniški vestnik/Slovenian Medical Journal) has the right to transfer the rights, acquired parties without explicit consent of the Author.
The Author consents that the Article be published under the Creative Commons BY-NC 4.0 (attribution-non-commercial) or comparable licence.
