The consequences of not diagnosing erythropoietic protoporphyria

Mm, Mathews-Roth

doi:10.1001/archderm.116.4.407

Cited by 13 publications

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“…There is an increased incidence of cholelithiasis in patients with EPP, and several cases of fulminant hepatic failure due to cirrhosis with massive PP accumulation have been reported (DeLeo et al, 1976;Mathews-Roth, 1980;Wells, Golitz & Bender, 1980). The two common findings in patients with both EPP and the resulting fatal liver disease are the presence of extremely high PP levels in the RBCs and abnormal liver function test results (Bloomer, 1979;Mathews-Roth, 1980). Our findings lead us to the view that, in the case of a rapidly deteriorating hepatic function, the PP level can be decreased quickly and appreciably with packed cell transfusions.…”

Section: Discussionmentioning

confidence: 99%

“…Erythema, oedema and thickening of sun-exposed skin are common, while blistering and scarring are rare. EPP is usually considered a mild disease, but the increased incidences of cholelithiasis and fatal liver disease suggest that, at least in some patients, EPP is not a benign condition (Mathews-Roth, 1980). In the past, the treatment of EPP consisted of the administration of antihistamines, topical sunscreens, anti-malarials and vitamins.…”

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Transfusion therapy for erythropoietic protoporphyria

1983

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Five patients with erythropoietic protoporphyria, in whom beta-carotene treatment had proved unsuccessful, were treated on 5 or 6 occasions with washed, packed red blood cell transfusions. Following the transfusions, the photosensitivity and the protoporphyrin levels in the red blood cells decreased considerably. This treatment may be useful in reducing the high protoporphyrin level in patients with a rapidly deteriorating hepatic function.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Transfusion therapy for erythropoietic protoporphyria

1983

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Gallstones in Children

Todd¹

1991

Arch Pediatr Adolesc Med

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Porphyrin and Heme Metabolism and the Porphyrias

Bonkovsky

Guo

Hou

et al. 2013

Comprehensive Physiology

160

165

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Porphyrins and metalloporphyrins are the key pigments of life on earth as we know it, because they include chlorophyll (a magnesium-containing metalloporphyrin) and heme (iron protoporphyrin). In eukaryotes, porphyrins and heme are synthesized by a multistep pathway that involves eight enzymes. The first and rate-controlling step is the formation of delta-aminolevulinic acid (ALA) from glycine plus succinyl CoA, catalyzed by ALA synthase. Intermediate steps occur in the cytoplasm, with formation of the monopyrrole porphobilinogen and the tetrapyrroles hydroxymethylbilane and a series of porphyrinogens, which are serially decarboxylated. Heme is utilized chiefly for the formation of hemoglobin in erythrocytes, myoglobin in muscle cells, cytochromes P-450 and mitochondrial cytochromes, and other hemoproteins in hepatocytes. The rate-controlling step of heme breakdown is catalyzed by heme oxygenase (HMOX), of which there are two isoforms, called HMOX1 and HMOX2. HMOX breaks down heme to form biliverdin, carbon monoxide, and iron. The porphyrias are a group of disorders, mainly inherited, in which there are defects in normal porphyrin and heme synthesis. The cardinal clinical features are cutaneous (due to the skin-damaging effects of excess deposited porphyrins) or neurovisceral attacks of pain, sometimes with weakness, delirium, seizures, and the like (probably due mainly to neurotoxic effects of ALA). The treatment of choice for the acute hepatic porphyrias is intravenous heme therapy, which repletes a critical regulatory heme pool in hepatocytes and leads to downregulation of hepatic ALA synthase, which is a biochemical hallmark of all forms of acute porphyria in relapse.

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The consequences of not diagnosing erythropoietic protoporphyria

Cited by 13 publications

References 0 publications

Transfusion therapy for erythropoietic protoporphyria

Transfusion therapy for erythropoietic protoporphyria

Gallstones in Children

Porphyrin and Heme Metabolism and the Porphyrias

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