The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.
Rare diseases have an estimated 4.8% point prevalence in South Africa
The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.
Rare diseases (rare diseases) collectively affect a significant proportion of the population, yet their burden in South Africa (South Africa) remains poorly defined due to limited diagnostic capacity and infrastructure, inadequate epidemiological data and poor surveillance systems.
To estimate the point prevalence of rare diseases in South Africa by integrating Orphanet-derived point prevalence data with national population statistics, identify disease characteristics and affected sub-groups, and assess the proportion of patients requiring high-cost treatments.
A cross-sectional epidemiologic study was conducted using Orphanet's validated methodology and four curated datasets (epidemiology, natural history, functional consequences, and medical domains).
Only 11% of rare diseases accounted for 98% of this patient burden.
Most conditions had childhood onset (77%) and were inherited in an autosomal recessive (42%) or autosomal dominant (27%) pattern.
Approximately 1.33 million (44%) patients in South Africa are estimated to experience moderate to severe functional disabilities related to the 3728 rare diseases in the study.
High-cost treatment was applicable to < 5% of patients for included rare diseases, yet only 25 of 59 globally approved orphan drugs are currently available in South Africa.
This study provides the first national-level, evidence-based estimate of rare diseases prevalence in South Africa using global Orphanet data.
The findings confirm a substantial, mostly paediatric burden, with significant disability and limited treatment access.
Results support investment in newborn screening, integrated community genetic services, early diagnosis, and equitable care models.