Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family

Abstract

Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues. This can cause skin and ocular lessions, progressive renal, cardiac or cerebrovascular disorders. If a person in a family has Fabry disease, other family members including even extended relatives, may also be at risk. Case report. We presented three cases pointed out various manifestation of Fabry disease, that illustrate a possible cause for otherwise unexplained cardiac hypertrophy and various rhythm and conduction abnormalities. Conclusion. Although most symptoms begin in childhood, various manifestations often lead to misdiagnosis and clinical diagnosis is frequently delayed for many years, even decades. Enzyme replacement therapy has become available, pointing out the importance of early diagnosis so that treatment can be initiated before irreversible organ damage.Uvod. Fabrijeva bolest je retka, X-hromozomno nasledna lizozomna bolest nakupljanja sa posledicnim intracelijskim nagomilavanjem neutralnih glikosfingolipida u razlicitim tkivima. To moze da uzrokuje patoloske promene koze i ociju, progresivne bubrezne, srcane ili cerebrovaskularne poremecaje. Ako jedna osoba u porodici ima Fabrijevu bolest, i drugi clanovi porodice, ukljucujuci cak i siru rodbinu, takodje mogu biti ugrozeni. Prikaz bolesnika. Prikazana su tri bolesnika iz jedne porodice sa ciljem da se ukaze na vrlo razlicite manifestacije Fabrijeve bolesti i na moguc uzrok, inace, neobjasnjive hipertrofije miokarda i poremecaje srcanog ritma i provodjenja. Zakljucak. Iako vecina simptoma pocinje u detinjstvu, razlicite manifestacije bolesti cesto dovode do pogresne dijagnoze i otkrivanje bolesti cesto kasni mnogo godina, cak i decenija. Enzimska supstituciona terapija postala je dostupna, isticuci vaznost ranog utvrdjivanja bolesti, tako da se lecenje moze zapoceti pre nastanka ireverzibilnih ostecenja organa.