Porphyria cutanea tarda and chronic myelomonocytic leukemia

Abstract

Recently, several cases of porphyria cutanea tarda (PCT) associated with either hematological disorders [ 1,2] or acquired immmunodeficiency syndrome (AIDS) [3,4] have been reported. Although different hypotheses have been proposed to explain such an association [5,6], a coincidence could not be ruled out. We report herein a patient in whom the diagnoses of PCT and chronic myelomonocytic leukemia (CMML) were simultaneously established.A 62-year-old man with history of chronic alcohol ingestion was admitted to the hospital because of the appearance of cutaneous hyperpigmentation and bullous skin lesions in the back of hands. On physical examination, hepatic enlargement 3 cm below the right costal margin was found, in addition to the above referred lesions. Histologic study of such lesions was concordant with porphyria. The diagnosis of PCT was established by the presence of high urine uroporphirin levels (2,914/ 24h, normal range 0-40) with normal porphobilinogen and deltaaminolevulinic acid, and presence of isocoproporphyrin in feaces [7]. A liver biopsy was also performed, portal hepatitis, esteatosis, and hemosiderosis being observed. At diagnosis of PCT the patient showed the following hematological parameters: Hb 10.4 g/dL, MCV 106 fL, WBC count 4.5 x 109/L (35 neutrophils, 15 lymphocytes, 40 monocytes, 3 metamyelocytes, and 2 myelocytes), and platelet count 70 X 109/L. Degranulation of the neutrophils and morphological abnormalities of the platelets were observed, and bone marrow aspirate showed dyshemopoietic features, 6% promonocytes, and 4% blast cells. The bone marrow karyotypic study was normal, and the serum muramidase activity was increased (17 pg/ml, normal range 4.5-6.5). Based on the above features the diagnosis of CMML according to the FAB criteria [8] was established. Remission of PCT was achieved after 6 months of chloroquine treatment, and no further recurrence has been observed. On its turn, CMML has remained stable for the last 4 years, requiring occasional packed RBC transfusion but not cytolytic therapy.Although reduced hepatic uroporphyrinogen decarboxylase activity as a consequence of iron overload caused by repeated transfusions has been involved in some cases of PCT associated with hematological disorders [2], the fact that the diagnoses of CMML and PCT were simultaneously established, as well as the lack of previous transfusions, do not support the possibility of such a mechanism in the ethiology of PCT in this patient. On the other hand, although no previous exposure to hepatotoxic chemicals or drugs potentially affecting hepatic uroporphyrinogen decarboxylase activity was found, the fact that he has a history of alcoholism would be sufficient to explain the development of PCT [6]. Thus, in spite of both PCT and CMML being unfrequent disorders, the association of such diseases in this patient appears to be merely coincidental.

The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

“…1,23 Thus, a deficiency in the levels of antioxidants, such as vitamin C, may also constitute a risk factor in PCT development. 1 Association of PCT with other pathologies, such as diabetes, 24 lupus, 25 leukemia, 26 and Hansen's disease 27 has been reported. Moreover, cases of PCT linked with the treatments used for other pathologies, such as estrogen therapy for prostate cancer 28 and hemodialysis in patients with renal failure, 29 were also observed.…”

A case of porphyria cutanea tarda in association with idiopathic myelofibrosis and CREST syndrome

“…Polycythaemia rubra vera, essential thrombocytosis, CML and idiopathic myelofibrosis are classified together in this category. Until now, all cases of PCT except one have been reported with CML 12,13 . In our case, CML could be ruled out by the absence of the Philadelphia chromosome and of abnormal leukaemic cells in the peripheral blood and bone marrow.…”

Porphyria cutanea tarda and hematologic malignancy ‐ a report of 4 cases

“…PCT has been reported in association with acute lymphoblastic (4) and non-lymphoblastic leukemia (9, chronic lymphatic (6), myelomonocytic (7) and myeloid leukemia (8), idiopathic myelofibrosis (9), lymphosarcoma (lo), hairy cell leukemia (1 1) multiple myeloma (1 2), Hodgkin's and non-Hodgkin's lymphoma (13)(14)(15)(16). Our series of four patients (Table 2) is the largest reported from any one centre.…”