Mitochondrial disease in Córdoba (Argentina). Pharmacoepidemiological study

GAVELLI, ME; MAZZIERI M. R.; FONTANA, D

Encuentro; 2ª Reunión Internacional de Ciencias Farmacéuticas.; 2012

Introduction The mitochondrial diseases (MD) are disorders caused by the deficiency of one or more proteins localized in the mitochondria. Pharmacological and nutritional agents and/or physical exercises are recommended for treatment. The aims of this field work were to identify the prescribed drugs for MD in Cordoba (Argentina), its dosage, frequency and route of administration and verify its availability in this and others countries, taking as references. Materials and Methods -Study: observational descriptive retrospective. -Population: 25 patients with MD, attended at the pharmacy service (PS) of HNC. -Period: 04/2010 – 12/2011 -Instrument: specially designed record -Variables: demographical details (sex, age, place), principal diagnostic, concomitants pathologies, family pathological antecedents, diagnostic tests, first consult and final diagnostic proofs, pharmacological treatments (active drug or IFA, ATC code, dose, frequency, route) -Sources: prescriptions received on the PS of HNC, clinical record and interviews to physician. -Data process: Microsoft Excel 2007. -Availability verification was carried out by consulting: ANMAT and authorized laboratories (Argentina); ANVISA (Brazil), LINAME (Bolivia), GICONA (Chile), FDA (USA), AIFA (Italy), PERUDIS (Peru), EMA (European Union). Results Among 25 patients registered, 17 comply with the inclusion criteria. -Demographic characteristics: Sex: women (n=10;59%), men (n=7;41%) Average age: 30 years (range: 4-60) Place: Cordoba (n=14;82%), other (n=3;18%). -Family pathological antecedents: neurological and motor disorders (n=7;41%), rheumatic fever (n=1;6%), without antecedents (n=4;24%), no data (n=5;29%). -Specific diagnostics: progressive ophtalmoplegia (n=8;47%), glutaric aciduria type II (n=3;18%), mitochondrial encephalopathy (n=2;12%) and myopathy (n=2;12%), metabolic acidosis (n=1;6%), undetermined (n=1;6%). -Diagnostic indicators: muscles biopsy (n=12;71%), ataxia (n=2;12%), convulsions (n=3;18%), fatigue (n=9;53%), ptosis (n=8;47%), hyporreflexia and hyperreflexia (n=2;12%), hypotonia (n=5;29%), nephromegaly (n=1;6%). -Onset of symptoms: <12 years (n=9;53%), 13-25 years (n=5;29%), >25 years (n=3;18%). -Time/period to definitive diagnostic: 3 months-1 year (n=1;16%), 1-5 years (n=6;35%), 5-10 years (n=5;29%), 10-16 years (n=3;18%). -Availability and pharmacological treatments: Table 1. Conclusions The study contributed to gather information about patients with MD registered in Cordoba (Argentina), the treatments employed and the national and international availability of pharmacological therapy. The drugs most used were riboflavin, coenzyme Q10, thiamine, carnitine, folic acid and multivitamins. In Argentina, riboflavin 50mg, thiamine 100mg y 300mg and coenzyme Q10 100mg y 300mg are “Non Available Medicines”. The riboflavin is not available on the doses and composition prescribed in any of the studied country.