About 500 Australians are living undiagnosed with Hereditary Angioedema (HAE) with Australia lagging behind in recognition and treatment of the disease, according to HAE Australasia.
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The chronic and potentially life-threatening genetic condition is characterised by severe swelling of tissues typically affecting the hands, feet, abdomen, face or larynx.
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HAE Australasia said the risk of death for undiagnosed patients could be as high as 40 per cent, mainly due to suffocation during laryngeal attacks.
Through comparative research, HAE Australasia, found Australia's performance in diagnosing and treating the disease was lacking. Immunologist and allergy expert Dr Connie Katelaris said most doctors didn’t immediately recognise the symptoms as HAE because it was so rare.
HAE Australasia president Fiona Wardman called for increased awareness and action to help identify the 500 undiagnosed Australians.