Plasma and red cell exchange transfusions for erythropoietic protoporphyria: A case report and review of the literature

Erythropoietic protoporphyria (EPP) is a rare and usually autosomal dominant disorder characterized by ferrochelatase deficiency and accumulation of protoporphyrin in red blood cells (RBCs), skin, and liver. A small minority of patients develop severe liver dysfunction for which optimum treatment is lacking. Therapeutic plasma exchange (TPE) and RBC exchange (RCE) have been anecdotally reported to benefit patients with EPP and liver failure. A 50‐year‐old female with EPP developed severe liver dysfunction after knee replacement surgery and high‐dose acetaminophen use. Liver biopsy showed cholestatic liver injury without fibrosis. A total of 20 TPE procedures, six RCE procedures, and then 14 more TPE procedures were performed as adjunctive therapy with the purpose of preventing progression to end‐stage liver failure. After initial TPE, the plasma and RBC protoporphyrin levels decreased from 834.9 to 180.4 μg/dL (normal, ≤1 μg/dL), and from 3,905 to 2,879 μg/dL (normal, ≤80 μg/dL), respectively, without liver function improvement. RCE decreased RBC protoporphyrin levels from 2,879 to 1,225 μg/dL but plasma protoporphyrin increased from 180.4 to 1,044.1 μg/dL, and liver function failed to improve. Additional TPE again stabilized plasma protoporphyrin and improved RBC protoporphyrin levels but the patient ultimately died owing to end‐stage liver disease complications. This case illustrates that TPE and RCE may improve the plasma and RBC biochemical markers of EPP activity but liver function abnormalities may persist and patients may still progress to liver failure either because of irreversible liver injury or independent pathobiological factors unrelated to EPP‐induced hepatotoxicity. J. Clin. Apheresis, 2012. © 2012 Wiley Periodicals, Inc.     

Getting the Measure of Child Health and Development Outcomes (1): A Method for Use in Children’s Services Settings

Measuring child well-being is an important basis for planning needs-led children’s services and charting their impact on outcomes. The quality of this work in the UK varies widely and little of it gets used in policy and practice. This article examines an attempt to develop and implement a new instrument to address these problems. The setting is an urban local authority seeking to plan and develop services in the context of a renewed focus on outcomes and multi-agency working. The article describes the development and implementation of an epidemiological survey of child health and development outcomes with a sample of children selected to be representative of all children aged 0–18 in the city. It discusses the strengths and weaknesses of the approach and considers future challenges as regards conceptualising child well-being, enhancing participation in such surveys and exploiting the data that emerges.