Familial Mediterranean Fever With Complete Symptomatic Remission During Pregnancy
Kwang Taek Kim1, Hyun Joo Jang1, Jae Eun Lee1
1Department of Internal Medicine, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Korea.
Abstract:
Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.
Insights
Familial Mediterranean fever (FMF), an autoinflammatory disease, can present in adulthood. This case highlights complete symptom remission during pregnancy in a Korean woman with FMF, offering insights into disease management.
Area of Science:
- Genetics
- Immunology
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder caused by MEFV gene mutations.
- It is characterized by recurrent fever, serositis, and is prevalent in Mediterranean populations.
- Adult-onset FMF is less common, and its presentation can vary.
Purpose of the Study:
- To report a rare case of adult-onset FMF in a Korean female patient.
- To describe the unique presentation of complete symptomatic remission during pregnancy.
- To discuss the implications for understanding FMF pathogenesis and management.
Main Methods:
- Clinical case presentation and patient history.
- Diagnostic evaluation including abdominal imaging and surgical history.
- MEFV gene mutation analysis.
Main Results:
- The patient experienced recurrent episodes of fever, abdominal pain, and vomiting.
- Complete symptomatic remission of FMF was observed during pregnancy.
- MEFV gene analysis identified two point mutations: p.Leu110Pro and p.Glu148Gln.
Conclusions:
- This case demonstrates adult-onset FMF with pregnancy-related remission in an East Asian patient.
- The findings suggest potential hormonal influences on FMF activity during pregnancy.
- Further research is needed to elucidate the mechanisms behind pregnancy-induced remission in FMF.
Related Concept Videos
Methods of reducing fever
Pharmacological Methods of Reducing Fever:
Patterns of Fever
Myocarditis II: Clinical Features and Diagnostic Tests
Cytomegalovirus Disease
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Myocarditis III: Medical Management
