New families with dual porphyria: Variegate Porphyria / Porphyria Cutanea Tarda

ROSSETTI MARÍA VICTORIA; CERBINO GABRIELA; MEDINA NANCY; GRANATA, XOANA; MELITO, VIVIANA; BATLLE, ALCIRA; PARERA, VICTORIA

Dusseldorf

Congreso; INTERNACIONAL CONFERENCE ON PORPHYRINS AND PORPHYRIAS 2015; 2015

Porphyria Foundation

Porphyrias are a group of inheritable and acquired pathologies, but there are cases of coexistence of two different types in one family or even in one individual. Porphyria Cutanea Tarda (PCT) may also present in an acquired form (A-PCT: 70-75%). It Is a cutaneous porphyria and the genetic failure involved the Uroporphyrinogen decarboxylase (URO-D) gene or the corresponding enzyme inhibition in A-PCT. Variegate Porphyria (VP) is a mixed porphyria produced by mutations in Protoporphyrinogen oxidase (PPOX) gene.Our aim was to demonstrate the importance of carrying out a complete biochemical and genetic study to establish the coexistence of two porphyrias in a same family to choose the correct treatment. We studied two patients with cutaneous manifestations who belong to VP families. P1: VP patient ?s father manifested cutaneous symptoms at 70 years old. He was latent for VP familial mutation (c.808-1G/C).P2: young woman 30 years old, nephew of a VP patient developing his cutaneous symptoms after using oral contraceptives for 4 years.In P1: TUP = 8,594 µg/24h, TFP: 280 µg/dw, and PPI = 3.63 (619nm).In P2: TUP = 4,790 µg/24h, TFP: 446 µg/dw and PPI = 5.32 (619nm). Both patients had excretion patterns of urinary and fecal porphyrins typical of PCT but no mutation was found in URO-D gene indicating that both were cases of A-PCT. In P2, c.503 G >A, p.R168H mutation, responsible for VP in her family was not detected. Even Porphyrias are rare disorders, there are cases of coexistence of two types in one family. These patients represent examples of cases where relatives from well diagnosed families develop other Porphyria. It must be emphasized the importance of carrying out a complete biochemical and genetic study to apply the specific treatment, which is critical in cases of coexistence of a cutaneous Porphyria (PCT) with an acute Porphyria (VP) since the therapy and medical care in both cases are rather different.