Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country.

Pak J Med Sci

Dr. Bushra Afroze, FCPS, Department of Paediatrics & Child Health, Aga Khan University, Stadium Road, P.O. Box 3500. Karachi 74800, Pakistan.

Published: January 2021

AI Article Synopsis

  • - The study aimed to identify why patients with inherited metabolic disorders (IMDs) in Pakistan are not receiving necessary food for special medical purposes (FSMPs) despite needing them.
  • - A survey was conducted on patients diagnosed with IMDs over a four-year period, revealing that 38.2% required FSMPs, and the main reasons for non-treatment included lack of physician prescriptions (51.7%) and financial constraints (39.6%).
  • - Overall, the findings highlight significant gaps in the healthcare system regarding the management of IMDs, particularly the need for better physician awareness and support for families facing affordability issues.

Article Abstract

Objective: This study was done to determine the factors responsible for non-treatment of inherited metabolic disorders (IMDs) requiring food for special medical purposes (FSMPs) in Pakistan.

Methods: A descriptive cross-sectional study was conducted by Departments of Pediatrics & Child Health and Pathology & Laboratory Medicine, Aga Khan University. Patients diagnosed with IMDs from January 2013 to December 2016 requiring FSMPs were surveyed after a year of initial diagnosis to collect the details of treatment advised, mortality status, and reasons of non-treatment, including not prescribed by physician, non-acceptance by family, non-availability or non-affordability.

Results: Over four years period, 311 patients were identified with IMDs; Median age of patients was 1.0 yrs (0.0.2-3.65) with 54% (n=168) being male. Of the total 38.2% (n=119) required FSMPs, 9% (n=28) patients were excluded due to unavailability of diagnostics information. Parents of 58 patients requiring FSMPs out of 119 participated in survey. The leading causes of non-treatment were, FSMPs not prescribed by physicians (n= 30, 51.7%) followed by non-affordability (n=23, 39.6%), families' unacceptance in (n=9, 18%) patients, non-availability of FSMPs (n=2, 3.4%) and early death of patient (n=1, 1.7%).

Conclusion: The main factors responsible for non-treatment of FSMPs requiring IMDs were non-prescription by physician and non-affordability.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613019PMC
http://dx.doi.org/10.12669/pjms.37.7.3887DOI Listing

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