Double Porphyria: Literature Review and Analysis of Clinical Observation

Abstract

A brief review of the literature on the problem of double porphyria and analysis of its own observation is presented. For more than 10 years patient B was observed for more than 10 years with a verified diagnosis of acute intermittent porphyria, which manifested with acute pain abdominal syndrome, neurological disorders in the form of peripheral polyneuropathy and hemiparesis of lower extremities, and hypertension syndrome was also noted. The observed clinical symptoms corresponded to an acute porphyrin crisis in the manifestation and / or relapse of acute intermittent porphyria. The diagnosis was confirmed by a quantitative determination of the excretory profile of porphyrin precursors (δ-aminocaproic acid, porphobilinogen) and porphyrin fractions (uroporphyrin, coproporphyrin). Their concentrations are significantly (especially porphyrin precursors) exceeding the control values, which is the cardinal diagnostic criterion of acute intermittent porphyria. Against the backdrop of persistent clinical and biochemical remission of acute intermittent porphyria, symptoms of photosensitization of the skin (blisters, erosion, pigment spots) on the dorsal surface of the hands began to appear in 4 years. Later, hypertrichosis was formed in the temporo-periorbital region. The constellation type of the excretory profile of porphyrins began to change. Against the backdrop of persistent increased excretion of porphyrin precursors (δ-aminolevulinic acid and porphobilinogen), a progressive increase in the excretion of the fraction of uroporphyrin was observed, which became dominant (up to 58% of the total content of porphyrins). Such a prolonged observation in the dynamics allowed us to state the appearance of a new variant of the porphyrin exchange disturbance, which, taking into account clinical symptoms, corresponded to another form of hepatic porphyria, namely, late cutaneous porphyria. The clinical and biochemical changes in the excretory profile of the parameters of porphyrin metabolism registered in the dynamics of observation may indicate the occurrence of a combined enzymatic defect characteristic of double porphyria. In our case, a manifestation of late cutaneous porphyria was noted against a background of compensated acute intermittent porphyria.

Hypothetical Mechanism of Skin Argyria

“…1. Skin argyria is caused by the appearance in the surface layers of the skin, mainly in the dermis, of highly dispersed submicron particles of metallic silver [30,[38][39][40]53,54]. 2.…”

“…The mechanism of the appearance and development of drug-induced skin argyria is unknown. Many doctors treat skin argyria as an incurable disease with an unclear pathogenesis that is considered a serious risk factor for the manifestation and progression of various pathologies; skin argyria toxicity is also being actively discussed [34][35][36][37][38][39]. Nowadays, laser therapies are considered to be the most effective because they enable the almost complete removal of argyria pigment [40,41].…”

“…Nevertheless, a logical question arises: why did people taking silver formulations not stop taking them even after the first signs of skin argyria appeared? A critical analysis of cases with skin argyria showed that these people had health problems even before taking silver [38,39]. They tried to solve them, turning to conventional medicine, but it was without success.…”

HFE hemochromatosis gene polymorphism and porphyria cutanea tarda

“…К факторам риска, которые могли способствовать возникновению ПКП, у всех 14 больных относилось частое употребление алкоголя (крепкие напитки и пиво), у 13 -хроническая HCV-инфекция, которая у всех пациентов была выявлена впервые. Поводом для соответствующего обследования послужила констатация у них ПКП, которая по современным представлениям оценивается как внепеченочное проявление хронической HCV-инфекции [34,35]. Преимущественно регистрировался генотип 1b (9 человек), реже -генотип 3а (4 человека).…”

“…Полиморфизм гена гемохроматоза HFE и поздняя кожная порфирия (стр. [28][29][30][31][32][33][34][35][36] To article HFE hemochromatosis gene polymorphism and porphyria cutanea tarda (p. [28][29][30][31][32][33][34][35][36] Рис. 1.…”