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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2010  |  Volume : 21  |  Issue : 5  |  Page : 919-922
Porphyria cutanea tarda in a chronic hemodialysis patient


Department of Internal Medicine, Hospital Militaire Principal d'instruction, Tunis, Tunisia

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Date of Web Publication31-Aug-2010
 

   Abstract 

End-stage renal failure and long-term hemodialysis (HD) treatment promote the development of genetically conditioned porphyria cutanea tarda (PCT). Iron overload is often asso­ciated with this disease and is thought to play a role in its pathogenesis. We report a case of HD­related PCT, which improved with deferoxamine treatment. A 33-year-old woman, with end-stage renal failure on HD since 1998, presented with a history of blisters on the face and dorsum of the hands, of several months duration. Laboratory analysis showed: hemoglobin 10.4 g/dL; a moderate hepatic cytolysis; ferritin 1300 μg/L (Nl: 8-120 μg/L) and negative serology for HIV, HBV and HCV. Porphyrin analyses showed a PCT pattern. Skin biopsy findings and direct immunofluo­rescence were consistent with PCT. The patient received deferoxamine (40 mg/kg intravenously every week for 6 weeks) which led to dramatic improvement of the symptoms. Several treatments are proposed in the management of dialysis-related PCT. This case confirms that deferoxamine can induce rapid and prolonged remission.

How to cite this article:
Labidi J. Porphyria cutanea tarda in a chronic hemodialysis patient. Saudi J Kidney Dis Transpl 2010;21:919-22

How to cite this URL:
Labidi J. Porphyria cutanea tarda in a chronic hemodialysis patient. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2019 Dec 12];21:919-22. Available from: http://www.sjkdt.org/text.asp?2010/21/5/919/68892

   Introduction Top


The dermatological manifestations observed during chronic renal failure are diverse and do­minated by pruritus and disorders in pigmen­tation. Porphyria cutanea tarda (PCT) in hemo­dialysis (HD) patients is an entity that has been known for more than 20 years, but remains un­common, [1],[2] and its treatment is not standar­dized. Very few interventions have been repor­ted to be safe and effective. We report a case of PCT in a HD patient, characterized by the seve­rity of the cutaneous signs and by its rapid res­ponse to deferoxamine.


   Case Report Top


A 33-year-old woman with end-stage renal disease (ESRD) secondary to malformative uro­pathy treated with HD for six years, was re­ferred to our institution in October 2004 for blistering eruptions on the face, forearms, hands and legs. These lesions had progressed over the past one year, and had been unsuccessfully treated with topical corticosteroids. She did not have any family history of porphyria, photosen­sitivity, or prior episodes of this type of rash. There was no history of alcoholism.

The patient's medications included calcium carbonate and salicylic acid. She had received intravenous iron preparations during the past six years (100 mg/15 days) and erythropoietin (Eprex 2000 IU Χ 2 by week) for chronic anemia.

On physical examination, the patient was apy­rexic, her blood pressure was 110/50 mmHg, pulse rate was 90 beats per minute, and respira­tory rate was 22 breaths per minute. There were multiple, crusted lesions, bullae, and painful fis­sures, involving the dorsal aspect of the hand and forearms as well as face and scalp, in addition to multiple scarred areas involving the hands and some hyperpigmentation and hyper­trichosis involving the periorbital skin [Figure 1] and [Figure 2]. Her conjunctivae were pale. Exami­nation of the chest and abdomen did not reveal any abnormality. Neurological examination was normal.

Laboratory investigations showed: hemogram showed a normochromic and normocytic ane­mia at 9.1 g/dL, the white blood cell count was 24,300/mm 3 and the platelet count was normal. The C-reactive protein level was 191 mg/L, ferritin was 1300 μg/L (N: 8-120 μg/L), blood urea was 20 mmol/L and serum creatinine was 490 micromol/L. The serum alanine amino­transferase (ALT) was 105 IU/L; the aspartate aminotransferase (AST) was increased at 66 (N < 40 IU/L) and the gamma glutamate transpep­tidase (GGT) was 125 IU/L (N: 7-64 IU/L).
Figure 1 :Chronic erythematous and scabby lesions on the face.

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Figure 2 :Erythematous, scabby and fissured lesions on the back of the hands and the fingers.

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Serological tests including HIV, hepatitis B, and hepatitis C were negative. Total plasma and fecal porphyrin levels were normal. Uroporphy­rinogen was 2990 nmol/24 hrs (N: < 30 nmol/ 24 hrs).

Skin biopsy findings and direct immunofluo­rescence were consistent with PCT. The diag­nosis of HD-related PCT was made in view of the clinical presentation, location of the lesions (sun-exposed areas) and the increase in urine porphyrins. The patient was treated with defe­roxamine (40 mg/kg intravenously every week for 6 weeks) and hydroxychloroquine (400 mg weekly). After six cycles, the clinical and biolo­gical symptoms had completely resolved.


   Discussion Top


PCT is a disorder of heme biosynthesis resul­ting from a defect or deficiency in the enzyme uroporphyrinogen decarboxylase. Heme precur­sors accumulate in the blood, urine, stool, and skin where exposed to sunlight and cause fra­gility, scarring, pruritic bullae, hyperpigmenta­tion, milia, and hypertrichosis. Occult PCT can become clinically evident when co-morbidities or medications affect the liver and further dis­able the defective enzyme. In patients with nor­mal renal function, the diagnosis of PCT is made by the quantification of urinary and fecal porphyrins. In individuals with chronic renal failure, the diagnosis must be made by the se­rum assay because urine output may be inade­quate and biliary secretion is variable. [3],[4],[5]

Acquired PCT is by far the most common form of porphyria. [3],[4] In most cases, this occurs in the setting of hepatic injury precipitated by the ingestion of alcohol, estrogens, or chlorina­ted hydrocarbons such as hexachlorbenzene. Virtually, all patients with PCT have evidence of iron overload. PCT has also been associated with hepatitis C virus infection, HIV infection, and hemochromatosis. [3],[5] During the past two decades, PCT has been reported in patients with chronic renal failure on HD with the reported prevalence in these patients ranging from 1.2% to 18%. [3]

The pathophysiology of PCT in uremic pa­tients is not well understood and several factors are implicated such as the inability of HD to eli­minate plasma porphyrins, which results in hy­perporphyrinemia without the presence of an enzyme deficiency [6] and the role of hepatitis C and alcoholism as co-factors. [7],[8] However, HD­related PCT with enzymatic deficiency could exist. In any event, the perturbation of ferrous metabolism plays an important part in the pathogenesis of PCT. [8]

The differential diagnosis evoked were photo­dermatitis, notably drug-induced (but no admi­nistration of a suspect drug was reported), pel­lagra (vitamin B3 deficiency), but there was no argument in favor of this diagnosis. A pseudo­porphyria cutanea tarda was eliminated by the measurement of the urinary levels of porphyrins. [6]

The treatment of PCT in patients with ESRD, whether maintained on HD or peritonal dialysis, is complicated. The classical treatment in such patients is phlebotomy. Repeated phlebotomy is often difficult in patients with ESRD because they are frequently anemic. Erythropoietin the­rapy with associated small volume phleboto­mies is a treatment option; but most ESRD pa­tients are already receiving erythropoietin and their anemia is not corrected to the extent to which phlebotomy may be well tolerated. Ery­thropoietin has been used successfully in four well-documented cases, [9],[10],[11],[12] with a fairly long de­lay before treatment (mean: six months).

The efficacy of deferoxamine has been pre­viously reported. [5],[13],[14],[15] This treatment has been used alone in three cases and used in combi­nation with other treatments in three other ca­ses. Deferoxamine is a ferrous iron chelator and, to a lesser degree, is able to chelate aluminum ions. It is mainly eliminated by the kidney. In our patient, the rapid efficacy of deferoxamine suggests a synergic effect with the prior admi­nistration of erythropoietin; these two drugs are in fact proposed for the treatment of this di­sease. However, it is important to note that the patient was administered erythropoietin before the appearance of the signs and that the lesions worsened despite erythropoietin treatment. Du­ring treatment with deferoxamine, erythropoie­tin was stopped.

Chloroquine is an antimalarial that chelates and removes hepatic-bound porphyrins excreted by the kidneys. [16],[17] However, in patients on dia­lysis, chloroquine-porphyrin complexes are in­efficiently cleared and no treatment successes have been reported. [18],[19] In our patient, we were unable to achieve improvement with five doses of hydroxychloroquine, 400 mg weekly.

Other therapeutic modalities that have been re­ported with less impressive results include plas­ma exchanges or renal transplantation. [3],[18],[19]

In view of the rarity of HD-associated PCT, treatment is not standardized. Deferoxamine is a treatment that is easy to use and generally leads to rapid and prolonged remission.

 
   References Top

1.Poh-Fitzpatrick MB, Bellet N, DeLeo VA, Grossman ME, Bickers DR. Porphyria cutanea tarda in two patients treated with hemodialysis for chronic renal failure. N Engl J Med 1978;299:192-4.  Back to cited text no. 1      
2.Hanno R, Callen JP. Porphyria cutanea tarda as a cause of bullous dermatosis of hemodialysis. Cutis 1981;28:261-3.  Back to cited text no. 2  [PUBMED]    
3.Shieh S, Cohen JL, Lim HW. Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. J Am Acad Dermatol 2000;42:645-52.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]  
4.Ruggian JC, Fishbane S, Demento FJ, Maesaka JK, Frei GL. Porphyria cutanea tarda in a patient on chronic ambulatory peritoneal dialysis. J Am Soc Nephrol 1996;7:397-402.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]  
5.Pitche P, Corrin E, Wolkenstein P, Revuz J, Bagot M. Successful treatment of hemodialysis­related porphyria cutanea tarda with defero­xamine). Ann Dermatol Venereol 2003;130:37-9.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]  
6.Gibson GE, McGinnity E, McGrath P, et al. Cu­taneous abnormalities and metabolic distur­bance of porphyrins in patients on maintenance haemodialysis. Clin Exp Dermatol 1997;22:124-7.  Back to cited text no. 6  [PUBMED]    
7.Albitar S, Bourgeon B, Chuet C. Porphyria cu­tanea tarda, hepatitis C infection, and iron over­load in a patient on hemodialysis. Am J Med 1999;106:266-7.  Back to cited text no. 7  [PUBMED]  [FULLTEXT]  
8.Bessis D, Hellier I, Dereure O, Guilhou JJ. Porphyrie cutanee tardive. Ann Dermatol Venereol 2001;128:1068-74.  Back to cited text no. 8  [PUBMED]  [FULLTEXT]  
9.Peces R, Enriquez de Salamanca R, Fontenellas A, et al. Successful treatment of haemodialysis­related porphyria cutanea tarda with erythro­poietin. Nephrol Dial Transplant 1994;9:433-5.  Back to cited text no. 9      
10.Yaqoob M, Smyth J, Ahmad R, et al. Haemo­dialysis-related porphyria cutanea tarda treat­ment by recombinant human erythropoietin. Nephron 1992;60:428-31.  Back to cited text no. 10  [PUBMED]    
11.Pizza V, Villa G, Galli F, et al. Erythropoietin as treatment of haemodialysis-related porphyria cutanea tarda. Nephrol Dial Transplant. 1992;7: 438-42.  Back to cited text no. 11      
12.Anderson KE. Erythropoietin for treatment of porphyria cutanea tarda in a patient on long­term haemodialysis. N Engl J Med 1990;322: 315-7.  Back to cited text no. 12      
13.Skokenhuber F, Kurz R, Grimm G, Moser G, Balcke P. Successful treatment of hemodialysis­related porphyria cutanea tarda with deferoxa­mine. Nephron 1990;55:321-4.  Back to cited text no. 13      
14.Andreoli SP, Cohen M. Intraperitoneal defero­xamine therapy for overload in children under­going CAPD. Kidney Int 1989;35:1330-5.  Back to cited text no. 14  [PUBMED]    
15.Praga M, Enriquez de Salamanca R, Andres A, Nieto J, Oliet A, Perpina J, Morales JM. Treat­ment of hemodialysis-related porphyria cutanea tarda with deferoxamine. N Engl J Med 1987; 316:547-8.  Back to cited text no. 15      
16.Ewing S, Crosby DL. Renal transplantation for porphyria cutanea tarda. N Engl J Med 1997; 336:811.  Back to cited text no. 16  [PUBMED]  [FULLTEXT]  
17.Scholnick PL, Epstein J, Marver HS. The mole­cular basis of the action of chloroquine in por­phyria cutanea tard. J Invest Dermatol 1973; 226-32.  Back to cited text no. 17      
18.Parrilla JG, Ortega R, Pena ML, et al. P por­phyria cutanea tarda during maintenance hae­modialysis. Br Med J 1980;280:1358.  Back to cited text no. 18      
19.King J, Day RS, Milne FJ, Bezwoda WR, Viljoen JD, Kramer S. Delayed onset of overt porphyria cutanea tarda in a patient on long-term hae­modialysis, a case report. S Afr Med J 1983; 63:743-6.  Back to cited text no. 19  [PUBMED]    

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Correspondence Address:
Jannet Labidi
Department of Internal Medicine, Hospital Militaire Principal d'instruction, Tunis
Tunisia
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PMID: 20814132

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