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Dr Cindy Towns is an Internal Medicine consultant and Geriatrician at Wellington Hospital. She is the lead physician for a family with a rare form of acute porphyria (Hereditary Coproporphyria - HCP). Her team have now managed over 60 acute presentations and have developed a guideline that has been distributed to a number of hospitals across Australasia. They have published the first case report of Posterior Reversible Encephalopathy in HCP and are working on a case series for the family members identified so far. Cindy was appointed to the Medical Advisory Board for the Australian Porphyria Association in 2018 which hopes to set up a registry for patients with acute porphyria in Australia and New Zealand. She holds a PhD in Bioethics and also sits on the RACP ethics committee. She is an adjunct Senior Lecturer with the University of Otago Bioethics Centre and a Senior Clinical Lecturer with the Wellington School of Medicine.
AbstractAcute Porphyria: Update And Management Guideline
The acute porphyrias are rare disorders of haem synthesis resulting from enzymatic deficiencies and characterized by acute attacks of typically neurovisceral symptoms. Delayed diagnosis is common - with a mean lag time between symptom onset and diagnosis of 15 years - which can result in life-threatening complications such as status epilepticus, respiratory paralysis and posterior reversible encephalopathy [1,2,3]. Early clinical suspicion and testing for raised urine porphobilinogen are the key components in preventing morbidity and mortality.
The Department of General Medicine at Wellington hospital has diagnosed a family with a rare subtype of acute porphyria (hereditary coproporphyria - HCP) and has managed over 60 presentations in the last two years. The condition is autosomal dominant and has high penetrance in this family. Anecdotally, Australia also appears to have a comparatively high prevalence of HCP and hence hospitals in both Australia and New Zealand should be familiar with how to diagnose and manage acute porphyria. This presentation (with case illustrations) will provide an overview of the disease with emphasis on early recognition of clinical features, diagnosis and management. It will include presentation of the guideline produced by Capital and Coast District Health Board and available to other hospitals throughout Australasia. References [1] Bonkovsky H, Maddikuri V, Yazici C, et al. Acute porphyrias in the USA: features of 108 subjects from porphyria consortium. Am J Med 2014; 127: 1233–1241. [2] Puy H, Gouya L and Deybach JC. Porphyrias. Lancet 2010; 375: 924-37. [3] Lambie D, Florkowski C, Sies C, Raizis A, Siu WK and Towns C. A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp). Annals of Clinical Biochemistry, 2018, Vol. 55(5) 616–619. |
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