Fabry disease, do we think enough about this multisystemic disorder? A presentation of three cases in a Serbian family.
2012
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.
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