Correspondence

Lack of Effect of Oral Charcoal in Congenital Erythropoietic Porphyria

N Engl J Med 1994; 330:1092-1094April 14, 1994

Article

To the Editor:

Congenital erythropoietic porphyria is a rare autosomal recessive disorder with progressive photomutilation and hemolysis due to excessive porphyrin production. Published studies have shown that oral treatment with activated charcoal to absorb intraluminal porphyrins in the intestine was effective in reducing the porphyrin concentration and clinical symptoms in three patients1-3. Efficacy over a prolonged period was reported in one patient1.

A 44-year-old patient with clinically and biochemically confirmed congenital erythropoietic porphyria was treated with two different brands of charcoal emulsion for a total of 32 days. One brand had been used with success in a previously treated patient; the other brand had the same in vitro porphyrin-binding capacity as the first4. Porphyrin concentrations were measured in plasma, erythrocytes, and urine by high-performance liquid chromatography before and during oral treatment with activated charcoal. Since in vitro studies showed the impossibility of recovering porphyrins bound to charcoal, a stool specimen was assayed before the study only.

In contrast to the results of previous studies, the concentrations of all porphyrins in plasma and erythrocytes remained virtually unchanged (Figure 1Figure 1Porphyrin Concentrations during Charcoal Therapy in a Patient with Congenital Erythropoietic Porphyria.). Urinary porphyrins exhibited a higher degree of variation but without a tendency to decrease. Clinical symptoms were not improved.

This patient had a daily urinary output of porphyrins that was 5 to 10 times higher than that of the successfully treated patient,1,5 and his plasma porphyrin concentrations were 3 to 6 times higher. Renal clearance of the individual porphyrins and the fractions excreted in stool were similar in both cases; the porphyrin pattern in stool did not differ substantially. Assuming an equivalent rate of biliary porphyrin excretion in these two patients, charcoal treatment should have increased our patient's steady-state daily excretion rate (sum of values in stool and urine) by a factor of three, from 126 to 370 mg (180 to 530 μmol) per 24 hours. This rate of elimination should have reduced the plasma concentrations.

Our patient had a lower rate of biliary porphyrin excretion than the other patient, who had a daily bile volume of 12.2 liters, which, if correctly calculated, is unusually high1,5. This can explain the difference in biliary porphyrin excretion in the two patients and the lack of response to therapy in our patient. Measurements of plasma porphyrins may be useful in monitoring the response to oral charcoal in patients with congenital erythropoietic porphyria.

Elisabeth I. Minder, M.D.
Xiaoye Schneider-Yin, Ph.D.
Stadtspital Triemli, 8063 Zurich, Switzerland

F. Moll, Ph.D.
Kantonsapotheke, 8006 Zurich, Switzerland

5 References

1. 1

   Pimstone NR, Gandhi SN, Mukerji SK. Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria. N Engl J Med 1987;316:390-393
   Full Text | Web of Science | Medline

2. 2

   Tishler PV, Winston SH. Rapid improvement in the chemical pathology of congenital erythropoietic porphyria with treatment with superactivated charcoal. Methods Find Exp Clin Pharmacol 1990;12:645-648
   Web of Science | Medline

3. 3

   Hift RJ, Meissner PN, Todd G, Hirsch RE. Oral activated charcoal to ameliorate the cutaneous photosensitivity of porphyria. Mol Aspects Med 1990;11:62-62 abstract.
   Web of Science

4. 4

   Tishler PV, Winston SH. Sorbent therapy of the porphyrias. IV. Adsorption of porphyrins by sorbents in vitro. Methods Find Exp Clin Pharmacol 1985;7:485-491
   Web of Science | Medline

5. 5

   Mukerji SK, Pimstone NR, Gandhi SN, Tan KT. Biochemical diagnosis and monitoring therapuetic modulation of disease activity in an unusual case of congenital erythropoietic porphyria. Clin Chem 1985;31:1946-1951
   Web of Science | Medline

Citing Articles (7)

Citing Articles

1. 1

   Wen-Hao Lee, Wei-Chun Tai, Po-Yuan Wu. (2011) Congenital erythropoietic porphyria. Dermatologica Sinica
   CrossRef

2. 2

   D. F. Bishop, X. Schneider-Yin, S. Clavero, H.-W. Yoo, E. I. Minder, R. J. Desnick. (2010) Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood 115:5, 1062-1069
   CrossRef

3. 3

   S. A. Dawe, A. D. Stephens, T. J. Peters, A. du Vivier, J. D. Creamer. (2002) Congenital erythropoietic porphyria: dilemmas in present day management. Clinical and Experimental Dermatology 27:8, 680-683
   CrossRef

4. 4

   I. Ahmed. (2002) Childhood Porphyrias. Mayo Clinic Proceedings 77:8, 825-836
   CrossRef

5. 5

   Robert J. Dsnick, Kenneth H. Astrin. (2002) Congenital erythropoietic porphyria: advances in pathogenesis and treatment. British Journal of Haematology 117:4, 779-795
   CrossRef

6. 6

   Abel Gorchein, Rong Guo, Chang Kee Lim, Ana Raimundo, Humphrey W. H. Pullon, Alastair J. Bellingham. (1998) Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal. Biomedical Chromatography 12:6, 350-356
   CrossRef

7. 7

   Gerard J.J. Beukeveld, Bert G. Wolthers. (1995) Cholestyramine orally administered to patients with erythropoietic protoporphyria results in urinary excretion of protoporphyrin: to be explained by the Herbst-Volkheimer effect?. Clinica Chimica Acta 233:1-2, 119-126
   CrossRef