Difficulties in diagnosing Hereditary angioedema (HAE) with normal C1 inhibitor levels in a patient with a pathogenic mutation in the MEFV gene associated with familial Mediterranean fever
O. S. Andreeva,
P. L. Yapparova,
T. E. Elizarova,
E. E. Bobrova,
O. V. Danil’chenko,
Zh. A. Mironova https://doi.org/10.24884/1609-2201-2024-103-2-68-76
Abstract
Hereditary angioedema (HAE) is an orphan disease that causes potentially life-threatening edema in various locations and remains serious problem in both pediatrics and adult clinical practice often disguised as various diseases. The HAE diagnosis with normal C1 inhibitor activity is particularly difficult. The purpose of this publication is to demonstrate unique clinical case of HAE with normal C1 inhibitor activity in young patient with a pathogenic mutation in the MEFV gene, which is associated with familial Mediterranean fever. Severe abdominal attacks in this patient have been regarded for a long time as a part of therapeutic pathology (gastroenteritis, gastritis, Familial Mediterranean fever), acute surgical and gynecological diseases, which led to late diagnosis verification. The HAE requires timely diagnosis, elimination of factors that provoke exacerbations and an immediate therapy administration, that significantly improves life quality of patients and helps prevent death.
About the Authors
O. S. Andreeva
Pavlov University
Russian Federation
Russian Federation
Olga S. Andreeva, Cand. Of Sci. (Med.), Associate Professor of the Department of Hospital Therapy with a Course of Allergology and Immunology named after ac. M. V. Chernorutsky with clinic, therapist of the highest category of the clinic of the Research Institute of the Research Institute of Rheumatology and Allergology
6–8, L’va Tolstogo str., Saint Petersburg, 197022
P. L. Yapparova
Pavlov University
Russian Federation
Russian Federation
Polina L. Yapparova, senior laboratory assistant of the Department of Hospital Therapy with a Course of Allergology and Immunology named after ac. M. V. Chernorutsky with clinic, resident of the 1st year of training in the specialty “Therapy”
Saint Petersburg
T. E. Elizarova
Pavlov University
Russian Federation
Russian Federation
Tatiana E. Elizarova, Cand. Of Sci. (Med.), Associate Professor of the Department of Hospital Therapy with a Course of Allergology and Immunology named after ac. M. V. Chernorutsky with clinic, Head of the 2nd therapeutic department of the clinic of the Research Institute of Rheumatology and Allergology
Saint Petersburg
E. E. Bobrova
Pavlov University
Russian Federation
Russian Federation
Elena E. Bobrova, Cand. Of Sci. (Med.), Head of the allergology department of the clinic of the Research Institute of Rheumatology and Allergology
Saint Petersburg
O. V. Danil’chenko
Pavlov University
Russian Federation
Russian Federation
Olga V. Danilchenko, doctor of ultrasound diagnostics of the highest category of clinic
Saint Petersburg
Zh. A. Mironova
Pavlov University
Russian Federation
Russian Federation
Zhanna A Mironova, Dr. Of Sci. (Med.), Associate professor of the Department of Hospital Therapy with a Course of Allergology and Immunology named after ac. M. V. Chernorutsky with clinic
Saint Petersburg
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Review
For citations:
Andreeva O.S., Yapparova P.L., Elizarova T.E., Bobrova E.E., Danil’chenko O.V., Mironova Zh.A. Difficulties in diagnosing Hereditary angioedema (HAE) with normal C1 inhibitor levels in a patient with a pathogenic mutation in the MEFV gene associated with familial Mediterranean fever. New St. Petersburg Medical Records. 2024;(2):68-76. (In Russ.) https://doi.org/10.24884/1609-2201-2024-103-2-68-76
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