CONICET | Buscador de Institutos y Recursos Humanos

Porhyrias 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 infrequent, cases of Dual Porphyria where Porphyria Cutanea tarda (PCT) and Acute Intermittent Porphyria (AIP) and PCT and Variegate Porphyria (VP) coexist, have been reported. We present here two unrelated families whith biochemical and clinical data suggesting the coexistence of acute and cutaneos porphyrias. In one family, we diagnosed two sisters (AP and IP) only with manifested PCT: Urinary porphyrins (UP): 1,017 and 1,832 µg/24h, exhibiting characteristic PCT pattern; plasma porphyrin index (PPI): 2.80 and 3.81; URO-D gene mutation: P62L. AP has two daughters: MC, with manifested AIP and LC, with latent AIP; PBG-D gene mutation: 985del12. MC has four children, two of them with latent AIP. LC has two daughters, both with latent AIP. In the other family, biochemical and genetic studies indicated the coexistence of AIP and PCT in patient ML with both acute and cutaneos symptoms (ALA: 5.4mg/24h; PBG: 70.1mg/24h; UP: 1,071µg/24h with mixed pattern; PPI: 1.68). ML has nine children; four sons: three latent AIP and one AIP/PCT and five daughters: one manifested AIP (MD), one latent AIP (MED) and three AIP/PCT (OD,YD and AD). OD has two daughters, one normal (KL) and the other with latent AIP (YL). YD has a normal daughter and MED has three sons with latent AIP. Mutation of AIP: G111R. Both families have dual porphyria AIP/PCT, in one of them each parent carries one mutated allele while in the other, the mother contributes with both mutated genes. The precise differential diagnostic is most important for the treatment of these patients, considering that drugs used for PCT could trigger an acute attack.