Hereditary Hepatic Porphyrias in Finland

Abstract

The occurrence of hepatic porphyrias --acute intermittent porphyria (AIP) and variegate porphyria (VP)-in Finland has been studied. During a period of 9 years 107 patients with AIP and 45 patients with VP were found. The prevalence of hereditary hepatic porphyrias was calculated to be 3.4per 100 OOO inhabitants. The patients belonged to 42 different families. Eighty-nine patients (59%) had had acute attacks, whereas 63 were symptomless latent cases. Precipitating factors, symptoms and excretion of porphyrins and their precursors did not significantly differ from what has been reported earlier from other parts of the world. A slight fragility of the skin on the back of the hands was noted in some 50% of VP patients. Abnormal sensitivity to sunlight could not be seen in a single case. However, about 50% of patients with VP showed an abnormal reaction when irradiated with artificial ultraviolet light. The difference in the skin symptoms in South African and Finnish VP patients is discussed.

Variegate Porphyria

“…143 It has been suggested that skin disease occurs less frequently in areas with lower levels of sun exposure. 62 South African patients do not generally comment on a seasonal variation in the intensity of their disease, whereas this has been noted in Finland. 62 …”

“…61 Similar reductions in PBG deaminase activity have been reported in subjects with HCP. 52,60,62 The PBG deaminase deficiency is not the consequence of a co-inherited mutation and appears to be a secondary phenomenon expressed by a proportion of subjects with PPOX deficiency. Meissner et al 48 simultaneously measured the activities of PPOX and PBG deaminase in Epstein-Barr virus-transformed lymphoblasts derived from subjects with VP and normal controls.…”

“…31,62,132,143,152 Most patients will present with skin disease alone; indeed, the acute attack has become increasingly less frequent since the 1990s. In general, the presentation of VP is well defined and fairly circumscribed.…”

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria

“…The prevalence of AIP in Europe is 1/75 000 inhabitants; in northern Sweden 1/1000 due to a founder effect [1,4] and in Finland 3/100 000 [5]. AIP prevalence in Argentina is about 1/125 000 inhabitants [6].…”

Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment

“…The clinical features of acute hepatic porphyria include autonomic impairments such as gastrointestinal symptoms, peripheral neuropathies, psychological dysfunction, and convulsions [1][2][3]. Porphobilinogen deaminase (PBGD) deficiency was identified in patients with acute intermittent porphyria [4].…”