Anderson-Fabry disease in Argentina

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

Buenos Aires

Congreso; 29th World Congress of Internal Medicine; 2008

International Society of Internal Medicine

P-02-11 | ANDERSON FABRY (AFD) DISEASE IN ARGENTINA Neumann, Pablo1,5; Aggio, Mario2,5; Ebner, Roberto3,5.; Reisin, Ricardo3,5.; Rozenfeld, Paula4,5, Martínez Pablo2,5. 1Hospital Italiano, La Plata, 2Hospital Penna, Bahia Blanca, 3Hospital Británico, Buenos Aires. 4Cátedra de Inmunología, Universidad Nacional de La Plata.; Argentina. 5 On behalf of the AADELFA Investigators 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 prospectively evaluated clinical symptoms and signs of 78 patients with AFD from 7 different families (39 males, mean age 29.7 years; 39 heterozygous females, mean age 32.6 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: Males Females Disease manifestation N % N % p Neuropathic pain 35 89.7 22 56.4 0.0018 Angiokeratoma 30 76.9 10 25.6 < 0.0001 Abdominal pain 24 61.5 13 33.3 0.0227 Proteinuria 31 79.5 19 48.7 0.0088 LVH 20 51.3 14 35.9 0.2535 NS Vertigo 6 15.4 5 12.8 1.0000 NS Cornea Verticillata 35 89.7 30 76.9 0.2235 NS Haemodialysis 6 15.4 2 5.1 0.2626 NS Headache 16 41.0 12 30.7 0.4793 NS Hypohidrosis 31 79.5 15 38.5 0.0005 Clearance < 80 11 28.2 8 20.5 0.5986 NS Short PR 5 12.8 2 5.1 0.4309 NS Conclusion: in males, neuropathic pain was the most common symptom and was significantly more frequent than in females, as well as small fiber neuropathy (pain and hypohidrosis), abdominal pain, the presence of angiokeratomas and signs of renal involvement (proteinuria). When compared with the FOS registry data, we found in our male population.a higher frequency of small fiber neuropathy, abdominal pain, angiokeratomas and left ventricular hypertrophy (LVH). Our findings confirm that heterozygous females suffer from clinically important symptoms and signs, being cornea verticilata and neuropathic pain the most common abnormalities.