CASE REPORT
Year : 2010 | Volume
: 21 | Issue : 5 | Page : 919--922
Porphyria cutanea tarda in a chronic hemodialysis patient
Jannet Labidi
Department of Internal Medicine, Hospital Militaire Principal d'instruction, Tunis, Tunisia
Correspondence Address:
Jannet Labidi
Department of Internal Medicine, Hospital Militaire Principal d«SQ»instruction, Tunis
Tunisia
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;21:919-922
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How to cite this URL:
Labidi J. Porphyria cutanea tarda in a chronic hemodialysis patient. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2022 May 29 ];21:919-922
Available from: https://www.sjkdt.org/text.asp?2010/21/5/919/68892 |
Full Text
Introduction
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
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}{Figure 2}
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
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.
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