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

ROSSETTI MV; CERBINO GN; MEDINA NM; GRANATA BX; MELITO VA; BATLLE A; PARERA VE

Dusseldorf

Congreso; INTERNACIONAL CONFERENCE ON PORPHYRINS AND PORPHYRIAS 2015; 2015

Porphyria Foundation

Porphyrias as a group of inheritable and independent pathologies, but there are cases of coexistence of two types of them in one family or even in one individual. Porphyria Cutanea Tarda may also present in an acquired form (A-PCT: 70-75%). It Is a cutaneous porphyria and the genetic failure involved the Uroporphyrinogen decarboxylase gene (URO-D) or the corresponding enzyme inhibition in A-PCT. Variegate Porphyria (VP) is a mixed porphyria produced by mutations in Protoporphyrinogen oxidase gene (PPOX).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 in order to choise the correct treatment to be applied. We studied two patients with cutaneous manifestations who belonged 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 of 30 years old, nephew of a VP patient triggered dermatological symptoms after the use of oral contraceptives for 4 years.In P1: TUP= 8,594 µg/24h, TFP: 280 µg/dw, and PPI = 3.63 (619nm).In P2: TUP = 4,790µg/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 of VP in her family was not detected. Although 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 trigger other Porphyria. It must be emphasysed the importance of carrying out a complete biochemical and genetic study in order to apply the specific treatment, which is critical in cases of coexistence of a cutaneous Porphyria (PCT) with an acute one (VP) since the therapy and medical care in both cases are absolutely different.