REVIEW OF PORPHYRIA IN THE REPUBLIC OF IRELAND

C Darby, RR O'Moore and VEF Crowley

Porphyrin Laboratory, Biochemistry Department, St James's Hospital, Dublin, Ireland

Porphyrias are a heterogenous group of inherited disorders of haem biosynthesis, in which the clinical manifestations can vary from life-threatening acute neourovisceral episodes to photosensitive cutaneous lesions. The prevalence of each porphyria varies between ethnic groups, and also shows extreme variation between the different types of porphyria. Thus, it is important for the optimal clinical management of these disorders that the clinical, biochemical and molecular characteristics of porphyria is defined for each specific population. At present the Biochemistry Department, St James’s Hospital, Dublin is the only laboratory offering a specific porphyria diagnostic service for the Republic of Ireland (ROI). The Porphyrin Laboratory, with over 30 years of biochemical and clinical details relating to all diagnosed porphyria probands, and subsequent pedigree studies, has the most comprehensive record concerning porphyria in ROI. Recently, a bespoke database was configured to manage this invaluable archive. In this presentation we will outline the current knowledge relating to the nature and extent of  porphyrias in the unique ecosystem of ROI. A brief summary is provided in Table 1.

Table 1:

Diagnosis

Families/Cases

Genetic Diagnosis

Porphyria Cutanea Tarda (PCT)

150

1

Acute intermittent porphyria (AIP)

16

2

Variegate Porphyria (VP)

9

1

Hereditary Coproporphyria (HCP)

6

2

Erythropoietic Protoporphyria (EPP)

12

2

Congenital Erythropoietic Porphyria (CEP)

1

Total

194

7