ANDERSON- FABRY (AFD) DISEASE IN ARGENTINA. UPDATED REPORT WITH 106 PATIENTS

MARTINEZ P; AGGIO M; EBNER R; REISIN R; NEUMANN P; ROZENFELD PA; CACERES G

Playa del Carmen, Mexico

Simposio; III Congreso Latinoamericano de Enfermedades Lisosomales; 2010

AIMS: To determine the clinical presentation and the existence of statistically significant differences in the distribution of signs and symptoms between males and females in a large group of patients with AFD in Argentina.   METHODS/PATIENTS: We evaluated prospectively the clinical symptoms and signs of 106 patients with AFD from 9 different families (46 males, mean age 31.6 years; 60 heterozygous females, mean age 30.5 years). Diagnosis in males was performed by enzymatic analysis and in females by genetic testing. Comparison between groups was performed using Fisher’s exact test (Software GraphPad InStat, v. 3.05)   RESULTS:     COMPARISON OF CLINICAL MANIFESTATIONS BETWEEN MALES AND FEMALES Disease manifestation Males Females     N % N % p Neuropathic pain 39 84.8 26 43.3 < 0.0001 S Angiokeratoma 34 73.9 11 18.3 < 0.0001 S Abdominal pain 28 60,9 16 26.7 0.0006 S Proteinuria 33 71.7 21 35.0 0.0002 S LVH 23 50.0 15 25.0 0.0137 S Vertigo 6 13.0 7 11.7 1.0000 NS Cornea Verticillata 38 82.6 34 56.7 0.2529 NS Haemodialysis 10 21.7 2 3.3 0.0043 S Cefalea 16 34.8 15 25.0 0.2898 NS Hypohydrosis 34 73.9 19 31.7 < 0.0001 S Clearance < 80 14 30.4 8 13.3 0.0517 NQS Short PR 5 10.9 3 5.0 0.2894 NS LVH: Left ventricular hyperthrophy. S: significant. NS: not significant. NQS: not quite significant.   CONCLUSION: in males, neuropathic pain as well as small fiber neuropathy (pain and hypohydrosis), abdominal pain, LVH, angiokeratomas and signs of renal involvement were the most common manifestations and were also significantly more frequent than in females.  As described in other series, our findings confirm that heterozygous females present clinically important symptoms and signs, being cornea verticilata and neuropathic pain the most common abnormalities.