Table 2

Clinical characteristics of the seven patients with AFD

IDAge (years)SexMLVWT (mm)Pattern of LVHLVOTOConduction diseaseAFD signs/symptomsRenal function
  • Enzyme activity*

  • Mutation

Clinical events
  • c. 644 A→G N215S

245F18ConcentricAngiokeratomaAlbuminuria normal GFR
  • c. 351C→T p.R118C

352F22Concentric+LBBBAngiokeratoma, Hypohydrosis, Acroparaesthesia, hypoacusis, cornea verticillataAlbuminuria normal GFR
  • (l) 35.9±2.7

  • c. 730G→A D244N

453M17ASHAngiokeratoma, abdominal discomfortProteinuria; GFR 52 ml/min/1.73 m2
  • c. 427G→A p.A143T

AVN ablation and PPM due to fast AF
556F15ASHGFR 58 ml/min/1.73 m2
  • c. 427G→A p.A143T

  • c. 1228A→G p.T410A

772M18ConcentricProteinuriaGFR 40 ml/min/1.73 m2
  • c. 644 A>G N215S

Type II diabetes mellitus
  • * (p) indicates plasma levels, (l) indicates leucocytes levels.

  • Normal range 4–21.9 nmol/h per ml.

  • Normal range 51.4–74.9 nanomol/mg of protein/hr.

  • § Normal range 2.3–9.9 nkat/l.

  • Normal range 22–36 ukat/kg protein.

  • A minus (−) sign means absence; a plus (+) sign means presence.

  • AF, atrial fibrillation; AFD, Anderson–Fabry disease; ASH, asymmetric septal hypertrophy; AVN, atrioventricular node; GFR, glomerular filtration rate; LBBB, left bundle brunch block; LVH, left ventricular hypertrophy; LVOTO, left ventricular outflow tract obstruction; MLVWT, maximal left ventricular wall thickness; PPM, permanent pacemaker.