Transfusion therapy for erythropoietic protoporphyria

Csató, M.; Siklósi, Cs.; Simon, N.

doi:10.1111/j.1365-2133.1983.tb07681.x

Cited by 37 publications

(19 citation statements)

References 18 publications

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“…However, results of this approach in patients with EPP are contradictory. It has been reported that iron therapy may exacerbate hepatic dysfunction [48,49] whereas in some case reports the correction of iron deficiency has improved EPP [50,51] . Nevertheless, the mechanism of this favorable response to iron therapy remains unknown, so more studies with a significant number of patients are necessary to clarify the role of iron therapy in the medical treatment of EPP.…”

Section: Parenteral Iron and Transfusion Of Erythrocytesmentioning

confidence: 99%

Liver disease and erythropoietic protoporphyria: A concise review

Casanova

Trapero-Marugán²,

Jones³

et al. 2010

WJG

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The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutation of the gene that encodes ferrochelatase (FECH). FECH deficiency is associated with increased concentrations of protoporphyrin in erythrocytes, plasma, skin and liver. The prevalence of this inherited disorder oscillates between 1:75 000 and 1:200 000. Clinical manifestations of EPP appear in early infancy upon first exposure to the sun. Nevertheless, approximately 5%-20% of patients with EPP develop liver manifestations. Retention of protoporphyrin in the liver is associated with cholestatic phenomena and oxidative stress that predisposes to hepatobiliary disease of varying degrees of severity, such as cholelithiasis, mild parenchymal liver disease, progressive hepatocellular disease with end-stage liver disease and acute liver failure. Liver damage is the major risk in EPP patients, so surveillance and frequent clinical and biochemical liver follow-up is mandatory. The diagnostic approach consists in detecting increased levels of protoporphyrin, decreased activity of FECH and genetic analysis of the FECH gene. A variety of non-surgical therapeutic approaches have been adopted for the management of EPP associated with liver disease, but none of these has been shown to be unequivocally efficacious. Nevertheless, some may have a place in preparing patients for liver transplantation. Liver transplantation does not correct the constitutional deficiency of FECH. Consequently, there is a risk of recurrence of liver disease after liver transplantation as a result of continuing overproduction of protoporphyrin. Some authors recommend that bone marrow transplantation should be considered in liver allograft recipients to prevent recurrence of hepatic disease.

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Section: Parenteral Iron and Transfusion Of Erythrocytesmentioning

confidence: 99%

Liver disease and erythropoietic protoporphyria: A concise review

Casanova

Trapero-Marugán²,

Jones³

et al. 2010

WJG

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“…Since excess protoporphyrin comes mainly from the bone marrow in patients with protoporphyria, transfusion therapy has been used to suppress erythropoiesis (48,49). Patients have received transfusions with red blood cells, and subsequently have had less photosensitivity as well as a decline in red blood cell protoporphyrin levels (48, 49).…”

Section: Therapeutic Optionsmentioning

confidence: 99%

The liver in protoporphyria

Bloomer

1988

Hepatology

106

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In 1961, Magnus and coworkers (1) reported the case of a 35-year-old man who for 27 years had had intense itching and swelling of his skin after exposure to sunlight. Urinary excretion of porphyrins and porphyrin precursors was normal, but the red blood cells and stool contained increased amounts of protoporphyrin. The authors proposed the name erythropoietic protoporphyria for this "hitherto undescribed erythropoietic condition."t Lancet is a widely distributed journal, and several gastroenterologists/hepatologists probably saw the title of the article. Some may have even read the summary, only to breathe a sigh of relief that this was not a type of porphyria which would enter into the differential diagnosis of obscure abdominal pain. Moreover, the liver was not the site of the metabolic disturbance, and the disorder would be classified as erythropoietic and not hepatic.Dark clouds soon began to appear on the horizon, however. In 1963, Porter and Lowe (2) reported a 6-yearold male with clinical and biochemical features of protoporphyria who also had hepatosplenomegaly and abnormal liver biochemistries. At the time of splenectomy, he was found to have a cirrhotic liver. Two years later, Cripps and Scheuer (3) described the histological findings in liver biopsy specimens from five patients with protoporphyria. Four of the biopsies showed focal deposits of pigment containing protoporphyrin, and portal fibrosis was present in two. The rain finally came in 1968, when Barnes and coworkers (4) described a 42-year-old man with a long history of photosensitivity who developed jaundice and hepatomegaly, followed by a rapid downhill course and death (4). Postmortem examination indicated that the patient had protoporphyria. DESCRIPTION OF LIVER DISEASEThe incidence and prevalence of protoporphyria have not been precisely determined for any population group.It appears to be a relatively common type of porphyria, perhaps second only to porphyria cutanea tarda in frequency. It occurs in all racial groups and has no sex predominance.

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“…Many therapeutic regimens have been proposed for liver disease like vitamin E [36], cholestyramine [37], chenodeoxycholic acid [38], blood transfusion [39] and hematin infusion [40], Their efficacy in the prevention of liver failure has not been clear ly established so far. These therapies can produce serious side effects or discomfort for the patient.…”

Section: Avoidance O F Possible Risk Factors For Liver Disease In Eppmentioning

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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Transfusion therapy for erythropoietic protoporphyria

Cited by 37 publications

References 18 publications

Liver disease and erythropoietic protoporphyria: A concise review

Liver disease and erythropoietic protoporphyria: A concise review

The liver in protoporphyria

Hepatic Disease in Erythropoietic Protoporphyria

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