Major subtypes of Fabry disease

Major subtypes of Fabry disease

The two major subtypes of Fabry disease are the Type 1 Classic and Type 2 Later-Onset phenotypes. The phenotypic subtypes are determined by the specific α-Gal A mutation; thus, all affected family members will have the same phenotypic subtype. Affected males with the Type 1 Classic phenotype have little, if any, α-Gal A enzyme activity (<1% of mean normal), whereas males with the Type 2 Later-Onset phenotype have residual enzymatic activity, typically >1% of mean normal activity. Heterozygous females from Type 1 Classic Fabry families have a wide range of clinical manifestations from asymptomatic to severely affected, whereas heterozygous females from Type 2 Later-Onset families may have symptoms later in life, including cardiac and kidney manifestations. Heterozygotes from Type 2 Later-Onset families are likely to be less involved clinically, but can have as severe manifestations as their affected male relatives. Newborn screening studies have revealed that the Type 2 Later-Onset patients are more commonplace than patients with the Type 1 Classic phenotype.

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