A.I. Burnasyan FMBC clinical bulletin. 2023 № 4
A.A. Slusar1, K.V. Vetkova2
Budd-Chiari Syndrome Masquerading as Paroxysmal Nocturnal Hemoglobinuria: a Case Report
1State Research Center – Burnasyan Federal Medical Biophysical Center of Federal Medical Biological Agency, Moscow, Russian Federation
2Russian Natiomal Research Medical Universiy named after N.I. Pirogov, Moscow, Russian Federation
Contact person: Slusar Anna Andreevna: ann.slusar@yandex.ru
Abstract
In this case report, the features of the course of the clinical presentation in a patient with paroxysmal nocturnal hemoglobinuria are analyzed; a life history, data from laboratory and instrumental examination methods are provided; the possibilities of modern methods of managing this pathology are discussed.
Keywords: ascites, Budd-Chiari syndrome, hepatic vein thrombosis, portal hypertension, paroxysmal nocturnal hemoglobinuria, PNH-clone, thrombocytopenia
For citation: Slusar AA, Vetkova KV. Budd-Chiari Syndrome Masquerading as Paroxysmal Nocturnal Hemoglobinuria: a Case Report. A.I. Burnasyan Federal Medical Biophysical Center Clinical Bulletin. 2023;4:48-51 (In Russian). DOI: 10.33266/2782-6430-2023-4-48-51
REFERENCES
- Bérangère Devalet, François Mullier, Bernard Chatelain, et al. Pathophysiology, Diagnosis, and Treatment of Paroxysmal Nocturnal Hemoglobinuria: a Review. European Journal of Haematology. 2015;95;3:190-198. DOI: 10.1111/ejh.12543. https://doi.org/10.1111/ejh.12543.
- Carlos Bravo-Perez, Luca Guarnera Nakisha, D. Williams, et al. Paroxysmal Nocturnal Hemoglobinuria: Biology and Treatment. Medicina. 2023;59;9:1612. DOI: 10.3390/medicina59091612. https://doi.org/10.3390/medicina59091612.
- Hubert Schrezenmeier, Alexander Röth, David J. Araten, et al. Baseline Clinical Characteristics and Disease Burden in Patients with Paroxysmal Nocturnal Hemoglobinuria (PNH): Updated Analysis from the International PNH Registry. Annals of Hematology. 2020;99;7:1505-1514. DOI: 10.1007/s00277-020-04052-z. https://doi.org/10.1007/s00277-020-04052-z.
- Bessler M., et al. Paroxysmal Nocturnal Haemoglobinuria (PNH) is Caused by Somatic Mutations in the PIG-A Gene. EMBO J. 1994;13;1:110-117. DOI: 10.1002/j.1460-2075.1994.tb06240.x.
- Noris M., Remuzzi G. Overview of Complement Activation and Regulation. Semin. Nephrol. Elsevier. 2013;33;6:479-492. DOI: 10.1016/j.semnephrol.2013.08.001.
- Simionatto C.S., et al. Thrombophlebitis and Disturbed Hemostasis Following Administration of Intravenous Hematin in Normal Volunteers. Am. J. Med. 1988;85;4:538-540. DOI: 10.1016/s0002-9343(88)80092-5.
- Studt J.-D., et al. Fatal Congenital Thrombotic Thrombocytopenic Purpura with Apparent Adamts13 Inhibitor: in Vitro Inhibition of ADAMTS13 Activity by Hemoglobin. Blood. 2005;105;2:542-544. https://doi.org/10.1182/blood-2004-06-2096.
- Seregina E.A., et al. Eculizumab Effect on the Hemostatic State in Patients with Paroxysmal Nocturnal Hemoglobinuria. Blood Cells, Mol. Dis. 2015;54;2:144-150. DOI: 10.1016/j.bcmd.2014.11.021.
- Laura Iliescu, Letitia Toma, Adriana Mercan-Stanciu, et al. Budd-Chiari Syndrome – Various Etiologies and Imagistic Findings. A Pictorial Review. Medical Ultrasonography. 2019;21;3:344-348. DOI: 10.11152/mu-1921. https://doi.org/10.11152/mu-1921.
- Hill A., et al. Paroxysmal Nocturnal Haemoglobinuria. Nat. Rev. Dis. Prim. 2017;3;1:17028. DOI: 10.1038/nrdp.2017.28.
- Van den Heuvel-Eibrink M.M., Bredius R.G., te Winkel M.L., Tamminga R., et al. Childhood Paroxysmal Nocturnal Haemoglobinuria (PNH), a Report of 11 Cases in the Netherlands. Br. J. Haematol. 2005;128;4:571–577.
- Ware R.E., Hall S.E., Rosse W.F. Paroxysmal Nocturnal Hemoglobinuria with Onset in Childhood and Adolescence. N. Engl. J. Med. 1991;325;14:991–996.
- Кулагин А.Д. и др. Клиническая манифестация и ошибки диагностики классической пароксизмальной ночной гемоглобинурии: анализ 150 наблюдений [Kulagin A.D., et al. Clinical Manifestation and Errors in the Diagnosis of Classical Paroxysmal Nocturnal Hemoglobinuria: a Case Series of 150 Patients. 2017;10;3:333-341 (In Russian)].
Conflict of interest. The authors declare no conflict of interest.
Financing. The study had no sponsorship.
Contribution. Article was prepared with equal participation of the authors.
Article received: 15.11.2023. Accepted for publication: 12.12.2023