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Patient care in Brazil: opportunities and challenges

Explore the challenges and opportunities in diagnosing, treating, and surveilling Classical Homocystinuria in Brazil, highlighting clinical and molecular profiles, management strategies, and the need for improved healthcare services.

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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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