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Patient care in Brazil: opportunities and challenges

Patient care in Brazil: opportunities and challenges. Soraia Poloni , RD, PhD Researcher , Medical Genetics Service Hospital de Clínicas de Porto Alegre Brazil. Brazil. >200 million inhabitants 8.515.767,049 km 2 Heterogeneous genetic and cultural background. Challenges. Diagnosis

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Patient care in Brazil: opportunities and challenges

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  1. Patient care in Brazil: opportunities and challenges Soraia Poloni, RD, PhD Researcher, Medical Genetics Service Hospital de Clínicas de Porto Alegre Brazil

  2. Brazil >200 million inhabitants 8.515.767,049 km2 Heterogeneous genetic and cultural background

  3. Challenges • Diagnosis • Treatment • Surveillance

  4. Classical homocystinuria (HCU) epidemiology Norway 1:6.400 • Prevalenceworldwide: 1:200,000 • Soatleast 500 HCU patientswouldbeexpected in Brazil Denmark 1:20.500 Ireland 1:65.000 Germany 1:17.800 Qatar 1:1.800 Tao tribe (Taiwan) 1:240 Georgia (USA) 1:351.000

  5. Between 2012-2016 we investigated the clinical and molecular profile of Classical Homocystinuria (HCU) in Brazil.

  6. Subjectsincluded • 66 patients • 57 non-related families • 15 health centers 1 4 Clinical data + DNA: n=35 Clinical data, no DNA: n=6 Only clinical data at diagnosis, no DNA: n=26 4 1 4 1 35 2 2 12

  7. Samplefeatures • Consanguinity: 57% of the families • Age: median 19 years (min:4; max: 45 years) • Sex:59% were male. 82%

  8. Diagnosis

  9. First symptom reported: • Ectopialentis: 35% of the patients • Non-specified visual impairment: 23% • Developmental delay: 20% • Seizures: 12%

  10. Diagnosis Reasons for clinical suspicion of HCU At the time of diagnosis, 40% of the patients had at least three symptoms of HCU! *Including stroke. **Including marfanoid habitus.

  11. Diagnosis Clinical picture at the time of diagnosis CNS: central nervous system

  12. The path to diagnosis... Birth 4 years 10 years Median age atfirstsymptom Median age atdiagnosis

  13. Management

  14. ResultsandDiscussion Management • 28% of patients had total homocysteine levels <60 µmol/L. • Treatment adherence was reported in 44% of patients (71% of those responsive and 41% of those nonresponsive). Treatment strategies: 89% on folic acid + pyridoxine 76% on betaine 32% on vitamin B12 26% on a low-methionine diet + metabolic formula Nonresponsive only: 87% were on betaine and 33% on low-methionine diet + metabolic formula.

  15. Analysisofmutations Most prevalent mutations: • p.Ile278Thr (allele frequency 18.2%) B6 + • p.Thr191Met (allele frequency 11.3%) B6 - • c.828+1G>A (allele frequency 11.3%) B6 ? • P.Trp323Ter (allele frequency 11.3%) B6 ?

  16. Healthteam Patients* had regular follow up with... *Data reported for 26 patients

  17. In summary... Most patients described in our study express a severe phenotype, associated with nonresponsiveness to pyridoxine, early and multisystem manifestations, and poor metabolic control. We believe responsive patients were underrepresented in this sample as a result of underdiagnosis of the milder forms of HCU. The poor compliance to the methionine-restricted diet and frequent prescription of betaine among pyridoxine nonresponsive patients suggests difficulties in prescription and adherence to diet.

  18. Late and under -diagnosis • Limited and heterogeneous access to health care services and treatment • Poor metabolic control • Medical expertise Challenges • Patients/health care professionals network across the country. • Development of protocols and guidelines for better diagnosis and management of HCU in Brazil. • Support for public policies. Opportunities

  19. First Brazilian Meeting for Patients with Homocystinuria Porto Alegre, 2016 Thankyou!soraiapoloni@yahoo.com.br

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