RT Book, Section
A1 Mehta, Atul B.
A1 Orteu, Catherine H.
A2 Kang, Sewon
A2 Amagai, Masayuki
A2 Bruckner, Anna L.
A2 Enk, Alexander H.
A2 Margolis, David J.
A2 McMichael, Amy J.
A2 Orringer, Jeffrey S.
SR Print(0)
ID 1161338742
T1 Fabry Disease
T2 Fitzpatrick's Dermatology, 9e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071837798
LK accessmedicine.mhmedical.com/content.aspx?aid=1161338742
RD 2024/04/19
AB AT-A-GLANCEIncidence  estimated  at  1:3200  to  1:170,000  population  in  all  ethnicities.X-linked  lysosomal  storage  disorder.Highly  penetrant  in  males;  female  heterozygotes  have  variable  expressivity.Partial  or  complete  deficiency  of  α-galactosidase  A  with  deposition  of  glycosphingolipids  (mostly  globotriaosylceramide).Classical  variants  affect  predominantly  skin,  kidneys,  heart,  eyes,  and  brain.Life  expectancy  shortened  by  20  years  in  males  and  15  years  in  females.Later  onset  variants  are  milder  and  predominantly  involve  a  single  organ  (eg,  renal  or  cardiac).Dermatologic  manifestations  include  angiokeratoma,  telangiectases,  “pseudoacromegalic”  facies,  hypohidrosis  and  hyperhidrosis,  lymphoedema,  and  Raynaud  phenomenon.Light  microscopy  shows  ectatic  upper  dermal  vessels,  peripheral  epidermal  acanthosis,  and  variable  hyperkeratosis.Electron  microscopy  shows  intracytoplasmic,  electron-dense,  vacuolar  “Zebra  bodies.”Treatment  is  symptomatic,  enzyme  replacement;  chaperone  therapy  (for  amenable  mutations).