Difficulties in the Diagnosis of Acute Porphyria in a Medical Hospital: Case Reports

Cherepanova V. V.
Doctor of Medicine, Consultant Hematologist¹

1 - City Clinical Hospital No. 33, Nizhny Novgorod, Russian Federation

Cherepanova Valentina Vasilievna, e-mail: cherepanova.v@inbox.ru

None declared.

The study had no sponsorship.

Two cases of acute porphyria are presented. Acute porphyria is a rare disease, a pathology associated with hereditary or acquired abnormalities of the biosynthesis of heme. The main features distinguishing these nosological forms are: the prevalence of precursors of porphyrins among laboratory-defined metabolites, rapid clinical progression of the disease; the absence of a correct diagnosis or late diagnosis resulting in life threatening neurological disorders. The main diagnostic difficulties are related to a non-specific character of clinical signs of acute intermittent porphyria, the clinical signs mimic a large range of somatic conditions, including emergency conditions. Certain difficulties for doctors are caused by the orphan nature of porphyria, clinical polymorphism, the difficulty to obtain pathogenetic drugs in medical institution for treatment of the disease in the Russian Federation.

acute porphyria, difficulty of diagnosis, heme arginate

10.29234/2308-9113-2020-8-4-60-69

1. Poblete-Gutierrez Р., Wiederholt T., Merk H.F., Frank J. The porphyrias: clinical presentation, diagnosis and treatment. Eur J Dermatol 2006; 16 (3): 230-40.

2. Pustovoyt Ya.S., Kravchenko S.K., Shmakov R.G., Savchenko V.G. Diagnostika i lechenie ostrykh porfiriy. Natsional'nye klinicheskie rekomendatsii. [Diagnosis and treatment of acute porphyrias. National clinical practice guidelines]. M: Meditsina: 2018; p. 19. (In Russ.)

3. Kappas A., Sassa S., Galbraith R., Nordmann Y. The porphyrias.: 2103-59. In Scriverer C.R., Beaudet A.L, Sly W.S, Valle D., editors. Metabolic basis of inherited disease. 7-th ed. New York: McGraw-Hill. 1995.

4. Yatskov K.V., Gorodetskiy V.M., Shulutko E.M., Glukhova T.M., Pustovoyt Ya.S. Intensivnaya terapiya oslozhneniy ostroy porfirii. [Intensive treatment of acute porphyria complications]. Anesteziologiya i reanimatologiya [Anaesthesiology and reanimatology] 2015; (4): 37-41. (In Russ.)

5. Pustovoyt Ya.S., Galstyan G.M., Savchenko V.G. Diagnosticheskaya rol' otdel'nykh sindromov i simptomov v semiotike ostrykh porfiriy. [Diagnostic role of certain syndromes and symptoms in acute porphyrias semeiotics]. Gematologiya i transfuziologiya [Haematology and transfusionology] 2014; 59(3): 35-38. (In Russ.)

6. Cherepanova V.V., Kurysheva M.A. Ostrye porfirii. Aktual'nye voprosy transfuziologii i klinicheskoy meditsiny. Materialy Vserossiyskoy nauchno-prakticheskoy konferentsii s mezhdunarodnym uchastiem. [Acute porphyrias. Major aspects of transfusionology and clinical medicine.Proceedings of All-Russian Research to Practice Conference with International Participation]. (Kirov, October 2-4 2017). Avers, 2017. p. 216-222. (In Russ.)

7. Sokolov A.A., Dembrovskiy V.N., Pishchik E.G. Okazanie meditsinskoy pomoshchi i lekarstvennogo obespecheniya patsientov, stradayushchikh zhizneugrozhayushchimi i khronicheskimi progressiruyushchimi redkimi zabolevaniyami. Ostraya peremezhayushchayasya (pechenochnaya) porfiriya. [Delivery of health care and provision of medicines to patients, who suffer life-threatening and advanced progressive rare illnesses. Acute intermittent (hepatic) porphyria]. Problemy standartizatsii v zdravokhranenii [Health care Standardization Problems. 2015; (3-4): 45-52. (In Russ.)

8. Zagidullina K.L., Popova N.A., Astashina E.E. Slozhnosti diagnostiki ostroy peremezhayushcheysya porfirii v klinicheskoy praktike. [Difficulties in diagnosis of acute intermittent porphyria in clinical practice]. Kazanskiy meditsinskiy zhurnal [Kazan Medical Journal] 2016; 97(6): 975-977. doi: 10.17750/KMJ2016-975 (In Russ.)

9. Abdrashitova G.T., Kulikov A.Yu. Farmakoekonomicheskiy analiz primeneniya lekarstvennogo sredstva gemin v lechenii patsientov s ostroy peremezhayushcheysya porfiriey na territorii Rossiyskoy Federatsii. [Pharmacoeconomic analysis of application of hemin pharmaceutical product in the treatment of patients with acute intermittent porphyria on the territory of the Russian Federation]. Farmakoekonomika: Teoriya i praktika [Pharmacoeconomics: Theory and Practice]. 2016; 4(1): 165-168. (In Russ.)