Familial Mediterranean fever: a clinical case

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Introduction. Familial Mediterranean fever is an autoinflammatory monogenic disease with an autosomal recessive mode of inheritance. It gets its name due to its high prevalence among certain ethnic groups in Mediterranean countries, but also occurs in other regions [1]. This disease is caused by genetic mutations of the MEFV gene, located on the short arm of chromosome 16. The highest frequency of heterozygous carriage of the mutant Mediterranean fever gene is observed among Armenians (every 7) [2, 3]. As a rule, it is manifested by periodic attacks of fever, headache, nausea and vomiting, abdominal and joint pain, and the presence of a rash. Diagnosis is based on clinical manifestations and family history. Genetic testing can confirm the diagnosis.

The purpose of the work was to present a clinical case of a 12-year-old child with familial Mediterranean fever.

Materials and methods of research. An analysis of the medical documentation of a 12-year-old child was carried out.

Research results. Patient M., 12 years old, was admitted with complaints of periodic pain in the abdomen, limbs, headaches, and uveitis. Life history: girl from 3rd pregnancy, 2nd birth. Second pregnancy – miscarriage. A child of Armenian nationality. In the family from her first marriage, the mother has a boy - 14 years old, healthy. Childbirth - caesarean section. Birth weight – 3200 g, length 53 cm, breastfeeding until 2 years. She grew and developed according to her age. She suffered from chickenpox in 2022, infrequently ARVI. Heredity – my half-sister on my father’s side (age 28 years old) was diagnosed with Familial Mediterranean fever at the age of 4 and receives colchicine. History of the disease: since the age of 2, the girl has had spotty rashes on the skin of the cheeks, shoulders, and constipation. From the age of 5–6 years, headaches appeared, periodically the pain became intense. Also, from this age, abdominal pain appeared, accompanied by nausea and vomiting, pain in the muscles and joints of the limbs. The girl was examined several times at the VODKB No. 1, in the endocrinology department, most recently in December 2023. Objectively: upon examination there are complaints of headache. Clinically, there is excess body weight (SDS +2.45), erythematous rashes on the skin of the cheeks and shoulders. The tonsils are hypertrophied, with other organs and systems without clinical pathology. Blood pressure – 103/59 mm. rt. Art., heart rate – 68/min. The examination was carried out: general blood test (without pathology); biochemical blood test (without pathology); general urinalysis (transient leukocyturia); blood hormones (free T4 – 14.0 pmol/l (N 8.4-14.2 pmol/l); TSH – 2.847 mIU/l (N 0.6-3.8 mIU/l); insulin – 10.95 µIU/ml (N 0.7-25.0 µIU/ml ); cortisol – 415.85 nmol/l (N 104-606 nmol/l); prolactin – 319.35 (N 67.0-726.0)). MRI of the brain, pituitary gland with contrast (MR - no pathological changes in the pituitary gland were detected. MR - signs of an intra-paraventricular cyst of the right hippocampus, communicating with the choroidal fissure on the right, without dynamics compared to the previous study). Irrigography: hypomotor dysfunction of the large intestine. Consultations with an ophthalmologist: uveitis of unknown etiology, remission, spasm of accommodation; gynecologist: chronic vaginitis; nephrologist: urinary tract infection; gastroenterologist: intestinal dyskinesia with constipation. Based on the above data, a diagnosis was made: I degree obesity (SDS BMI +2.45), exogenous - constitutional, complicated. Insulin resistance. Impaired glucose tolerance. Concomitant diagnosis: Autoimmune thyroiditis, stage of drug-induced euthyroidism. Urinary tract infection. Intestinal dyskinesia with constipation. Chronic vaginitis. Mediterranean fever? Arthralgia. Uveitis of unknown etiology, remission. Spasm of accommodation. Arachnoid cyst of the hypocampal region. Tension headaches. Violation of the static function of the cervical spine. She received therapy: metformin, levothyroxine, methotrexate, symptomatic therapy, and local dexamethasone solution for exacerbations of uveitis. Due to suspicion of familial Mediterranean fever, a blood test was sent to the Medical and Genetic Research Center named after Academician N.P. Bochkova" Moscow. A mutation of the MEFV gene in exon 10 was detected in a heterozygous state - pathogenic variant c.2177T (p. Va1726A1a$ p.V726A). To clarify the diagnosis, the child was sent to consultation at the Research Institute of Rheumatology named after. V. A. Nasonova.”

Conclusion. Thus, the disease in the child has an atypical course. Further tactics for managing the patient depend on determining the mechanism of the relationship between the underlying disease and concomitant ones.

About the authors

Alina Sergeevna Kovaleva

Voronezh State Medical University named after N. N. Burdenko

Author for correspondence.
Email: Alina-tka0@mail.ru
ORCID iD: 0000-0002-5750-9006
Russian Federation, 10 Studencheskaya Street,394036 Voronezh, Russian Federation

Inna Vladislavovna Kondratyeva

Voronezh State Medical University named after N. N. Burdenko

Email: innakondrateva6121@yandex.ru
ORCID iD: 0000-0002-7564-0382
SPIN-code: 2630-0255
Scopus Author ID: 692286

candidate of Medical Sciences, Associate Professor of the Department of Hospital Pediatrics

Russian Federation, 10 Studencheskaya Street,394036 Voronezh, Russian Federation

Tatyana Leonidovna Nastausheva

Voronezh State Medical University named after N. N. Burdenko

Email: nastat53@mail.ru
ORCID iD: 0000-0001-6096-1784
SPIN-code: 1870-9085
Scopus Author ID: 393081

doctor of Medical Sciences, Honored Doctor of the Russian Federation, Professor, Head of the Department of Hospital Pediatrics

Russian Federation, 10 Studencheskaya Street,394036 Voronezh, Russian Federation

References

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