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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.

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About the authors

Alexander B. Krivosheev

Novosibirsk State Medical Universaty

Novosibirsk, 630091, Russian Federation
MD, PhD, DSc., professor of the Departament faculty therapy of Novosibirsk State Medical Universaty. Novosibirsk, 630091, Russian Federation

L. Ya Kupriyanova

City Clinical Hospital № 1

Novosibirsk, 630047, Russian Federation

M. A Kondratova

Novosibirsk State Medical Universaty

Novosibirsk, 630091, Russian Federation


  1. Doss M.O. Pathobiochemical transition of secondary coproporphyrinuria to chronic hepatic prophyria in humans. Klin. Wschr. 1980; 58(3): 141-8.
  2. Doss M.O. Hepatic porphyria. Med. Klin. 1997; 92(12): 745-6.
  3. Досс М.О. Дефицит ферментов в эритроцитах при порфириях человека. Гематология и трансфузиология. 1992; 11-12: 10-5.
  4. Мур М.Р. Диагностика и лечение острых порфирий. Гематология и трансфузиология. 1992; 11-12: 33-40.
  5. Qadiri M.R., Church S.E., McColl K.E., Moore M.R., Youngs G.R. Chester porphyria: a clinical study of a new form of acute porphyria. Br. Med. J. (Clin. Res. Ed.). 1986; 292(6518): 455-9. doi: 10.1136/bmj.292.6518.455
  6. McColl K.E., Thompson G.G., Moore M.R., Goldberg A., Church S.E., Qadiri M.R., Youngs G.R. Chester porphyria: biochemical studies of a new form of acute porphyria. Lancet. 1985; 2(8459): 796-9.
  7. Kushner J.P., Pimstone N.R., Kjeldsberg C.R., Pryor M.A., Huntley A. Congenital erythropoetic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis. Blood. 1982; 59(4): 725-37.
  8. Гордон И.Б., Ляхер А.В., Крамаренко Г.А. О необычных клинических проявлениях острой перемежающейся порфирии и сочетании ее с поздней кожной порфирией. Терапевтический архив. 1982; 52(9): 114-6.
  9. Кривошеев Б.Н., Лукина И.Л., Коваленко Л.И., Кривошеев А.Б. О «двойных порфириях» (Обзор литературы и описание собственного наблюдения). Терапевтический архив. 1993; 65(7): 54-8.
  10. Day R.S., Eales L., Meissner D. Co-existent variegate porphyria and porphyria cutanea tarda. N. Engl. J. Med. 1982; 307(1): 36-41.
  11. Watson C.J., Cardinal R.A., Bosseenmaier I., Petryka Z.J. Porphyria variegate and porphyria cutanea tarda in siblings: chemical and genetic aspects. Proc. Nat. Acad. Sci. USA. 1975; 72(12): 5126-9.
  12. Kostler E. Definition and classification of porphyrias (Definition und Klassfikation der Porphyrien). Z. Gesamte. Inn. Med. 1987; 42(18): 528-30.
  13. Пивник А.В., Подберезин М.М., Пустовойт Я.С. Острая перемежающаяся порфирия: клиника, диагностика, лечение. Проблемы гематологии и переливания крови. 1998; 1: 36-42.
  14. Кривошеев Б.Н., Куимов А.Д., Кривошеев А.Б. Заболевания внутренних органов при манифестных и латентных нарушениях порфиринового обмена. М.: ИНФРА-М; 2014.
  15. Gonzalez-Arriaza H.L., Bostwick J.M. Acute Porphyrias: A case report and review. Am. J. Psychiatry. 2003; 160(3): 450-9.
  16. Puy H., Gouya L., Deybach J.C. Porphyrias. Lancet. 2010; 375(9718): 924-37.
  17. Hift R.J. The acute porphyrias. Eur. Gastroenterol. Hepatol. Rev. 2012; 8(1): 17-21.
  18. Кривошеев А.Б., Бойко К.Ю., Хван Л.А., Добрачева О.А., Куприянова Л.Я., Кривошеева И.А. Острая перемежающаяся порфирия. Обзор литературы и анализ собственного наблюдения. Медицинский алфавит. Практическая гастроэнтерология. 2017; 1(9): 30-3



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Copyright (c) 2018 Krivosheev A.B., Kupriyanova L.Y., Kondratova M.A.

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