DUAL PORPHYRIA - PORPHYRIA CUTANEA TARDA AND VARIEGATE PORPHYRIA - IN ARGENTINA

Melito V., Parera V.E., Rossetti M.V., Batlle A.

CIPYP, Buenos Aires, Argentina

Porphyrias are hereditary and independent diseases due to a specific enzymatic failure in heme metabolism. Although the existence of two different porphyrias (Dual Porphyria) in one patient is unfrequent, cases of Dual Porphyria where Porphyria Cutanea Tarda (PCT) and Acute Intermitent Porphyria (AIP) and PCT and Variegate Porphyria (VP) coexisted, have been reported. Superimposition of both urinary and faecal porphyrin excretory patterns and clinical symptoms are observed in these patients. We report here a case of Dual Porphyria in a patient having both PCT and VP. In Argentine PCT and AIP are the most frequent porphyrias. We have already diagnosed a big family carrying PCT/AIP Dual Porphyria. Because VP is not very frequent in our country, its association with other porphyria is yet more rare. We present the case of two sisters showing cutaneous signs typical of PCT: blisters, photosensitivity, hyperpigmentation, hypertrichosis, cutaneous fragility, and no acute symptomatology. GW (age 28 years): urinary porphyrins (UP) 1975 µg/ 24 h exhibiting characteristic PCT pattern but with high coproporphyrin content (Uro: 36%, Hepta: 25%, Hexa: 4%, Penta: 10%, Copro: 25%). MW (age 32 years) UP: 256 µg/24 h showing abnormal but not PCT pattern (Uro: 4%, Hepta: not detectable (nd), Hexa: nd, Penta: 16%, Copro: 80%). In both patients urinary δ-aminolevulinic acid (ALA) (GW: 1.0 mg/24 h; MW: 1.5 mg/24 h) was normal and porphobilinogen (PBG) was only slightly increased (GW: 3.2 mg/24 h; MW: 2.8 mg/24 h. Faecal porphyrins were elevated: GW: 270 µg/dry weight (Uro: 2%, Hepta: 1%, Hexa: 1%, Penta: 10%; Copro: 35%, Isocopro: 10%, Proto: 36%), MW: 896 µg/dry weight (Uro: 2%, Hepta: 1%, Hexa: 1%, Penta: 2 %; Copro: 35%, Isocopro: 10%, Proto: 49%). In this patient faecal porphyrin content was rather high for a PCT however characteristic for a VP pattern with predominance of Proto. Plasma porphyrin index (PPI) was above normal (<1.30) in both patients: GW: PPI was 4.33 with a wavelength (l) at 618 nm characteristic for PCT, MW: PPI was 6,20 with l at 628 nm characteristic for VP. According to these results patient GW presents a Dual Porphyria PCT/PV while her sister, up to date, has only developed VP. Genetic studies are been carrying out in the uroporphyrinogen decarboxylase and protoporphyrinogen oxydase.