Clinical and Biochemical chacterisation of Argentinean Families with Variegate Porphyria.

GIUDICE, JIMENA; PARERA, VICTORIA; MELITO, VIVIANA; BATLLE, ALCIRA; ROSSETTI, MARIA VICTORIA

Rotterdam, Holanda

Congreso; Porphyrins and Porphyrias - Rotterdam 2007; 2007

European Porphyria Association

Variegate Porphyria (VP) is an autosomal dominant disorder associated with mutations in the Protoporphyrinogen oxidase (PPOX) gene. VP is characterized by photosensitivity and/or neuroabdominal acute attacks without any well demonstrated genotype-phenotype correlation. We have studied the clinical and biochemical outcome of 72 individuals representing 57 unrelated Argentinean families diagnosed as VP between 1980 and 2006. We have found that 28% had acute attacks, 35 % photosensitivity and 37 % both manifestations. These values greatly differ from those reported for other populations. The main difference is a higher percentage of mixed symptoms and a lower value of cutaneous manifestations alone. The prevalence of acute attacks are still higher than that found by other authors. We have only 29% of asymptomatic individuals which is extremely low when compared with the value found for other populations. This suggests that much work is yet to be done for the Argentinean population to become aware of the vital importance of an early VP diagnosis and silent carrier detection in the affected families to prevent the development of the disease. We have studied the correlation between PPOX genotype and clinical and biochemical manifestations of patients with the most common mutation in Argentina (1043insT). We have found that 10% had acute symptoms, 50% cutaneous manifestations and 40% both. These values differ from those found for the VP patients with other mutations (24%, 41%, 35% respectively). Biochemical parameters values (ALA and PBG in urine, urinary, fecal and blood porphyrins and plasma porphyrin index) showed no significant difference between both groups. Although no clear genotype-phenotype correlation for the more frequent mutation in Argentina was observed, a prevalence of cutaneous symptoms (50%) and a higher number of asymptomatic carriers (37%) in this group respect to VP patients with other mutations (35 and 24% respectively) was found.