Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure

Scott, Alasdair; Ansford, Anthony J.; Webster, B. H.; Stringer, H.C.W.

doi:10.1016/0002-9343(73)90230-1

Cited by 58 publications

(14 citation statements)

References 26 publications

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“…Thus patients have been described with raised erythrocyte protoporphyrin and yet normal faecal protoporphyrin amounts. A mild defect of hepatic porphyrin excretion could explain this observation (Redeker, Bronow & Sterling, 1963); and there have been recent reports of hepatic dysfunction in this disease (Barnes, Hurworth & Millar, 1968 ;Donaldson, McCall, Magnus, Simpson, Caldwell & Hargreaves, 1971 ;Scott, Ansford, Webster & Stringer, 1971) and G.M. and M.P.…”

Section: Erythropoietic Protoporphyriamentioning

confidence: 85%

Isotopic Studies of the Erythropoietic and Hepatic Components of Congenital Porphyria and ‘Erythropoietic’ Protoporphyria

et al. 1973

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1. Labelled glycine and/or 6-aminolaevulinic acid (ALA) were administered to a child with congenital erythropoietic porphyria (Giinther's disease), to three normal children and to three patients with erythropoietic protoporphyria.2. The utilization of [I5N]ALA for the synthesis of faecal 'urobilin' in the congenital erythropoietic patient was normal.3. This suggests there is no significant increase of hepatic bile-pigment formation in congenital erythropoietic porphyria.4. The utilization of glycine for synthesis of faecal 'urobilin' and protoporphyrin in all three patients with erythropoietic protoporphyria was increased. There was a similarly high utilization of [4-14C]ALA administered either orally or intravenously to one of the patients.5. The utilization of [4-14C]ALA was not affected by phlebotomy. 6. Utilizations of both ALA and glycine for free erythrocyte and plasma protoporphyrins were low.7. This study provides further evidence that in erythropoietic protoporphyria there is a greatly increased hepatic contribution to the early labelled fraction of bile pigment and that in this disease the excessive protoporphyrin is formed mainly in the liver.Porphyrias are classified as erythropoietic or hepatic according to the apparent site of the primary defect of porphyrin metabolism. In congenital erythropoietic porphyria (CEP;

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Section: Erythropoietic Protoporphyriamentioning

confidence: 85%

Isotopic Studies of the Erythropoietic and Hepatic Components of Congenital Porphyria and ‘Erythropoietic’ Protoporphyria

et al. 1973

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“…Regarding the onset of the terminalphase exposure to sunlight [9], fasting and use of chlordiazepoxide [15] have been men tioned as provoking factors. Jaundice was the most frequent present ing sign of liver failure (n = 16; 89%).…”

Section: Methodsmentioning

confidence: 99%

Hepatic Disease in Erythropoietic Protoporphyria

Mooyaart¹,

Jong²,

Veen³

et al. 1986

Dermatology

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A standardized hepatological investigation was performed in 9 unselected patients with erythropoietic protoporphyria (EPP). The aim of this study was to detect early liver involvement due to EPP and to determine the significance of several diagnostic procedures. Scintigraphy revealed slight enlargement of liver and spleen in all cases. Light microscopic examination of liver tissue in 7 patients showed protoporphyrin deposition in 4 and signs of fibrosis in 3 cases. Cirrhosis was not found. Electron microscopical examination (EM) of all 7 cases was negative and needle-shaped crystals were not found. Therefore we regard EM of little diagnostic value in the detection of early liver involvement. The literature on fatal and asymptomatic cases of liver involvement in EPP is discussed with emphasis on possible predictive and provocative factors. A proposal for EPP patients intending to reduce possible risk factors is made.

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“…In 1968, Barnes, Hurworth, and Millar described a patient with the condition who died at the age of 42, after a history of only three months, with deep jaundice, hepatic failure and cirrhosis. Four other patients with erythropoietic protoporphyria and cirrhosis have recently been reported (Donaldson, McCall, Magnus, Simpson, Caldwell, and Hargreaves, 1971;Schmidt and Stich, 1971;Scott, Ansford, Webster, and Stringer, 1973). We describe two sisters with erythropoietic protoporphyria who had life-long photosensitivity, followed later by severe blistering, and who both became jaundiced and died at the age of 31 with cirrhosis.…”

mentioning

confidence: 86%