Clinical Associations of E148Q Heterozygosity: What to Expect From E148Q?

OBJECTIVE: The exact effects of MEFV variants on inflammation are still under investigation, and reports on variants of unknown significance, particularly the E148Q variant, have been conflicting. Therefore, this study aims to investigate patients exhibiting E148Q heterozygosity, focusing on diagnoses and disease courses to assist physicians in interpreting the variant. METHODS: Data of pediatric patients presenting to the Pediatric Rheumatology clinic between November 2016 and September 2023, exhibiting only E148Q heterozygosity in MEFV gene analysis, were extracted. Patients who were lost before 9 months of follow-up have been excluded to ensure the completion of initial diagnostic tests and evaluations. RESULTS: Among the 119 patients with E148Q variant, the diagnoses were as follows: healthy, 51.3%; IgA vasculitis, 10.1%; Familial Mediterranean Fever (FMF), 7.6%; Periodic fever, Aphtous stomatitis, Pharyngitis, Adenitis (PFAPA), 6.7%; and other diagnoses, 19.3%. IgA vasculitis patients experienced articular, gastrointestinal, and renal involvement at rates of 91.7%, 58.3%, and 16.7%, respectively. Complete response, partial response, and no response to colchicine were 37.5%, 12.5%, and 50%, respectively, in PFAPA patients. All FMF patients responded to colchicine treatment resulting in reduced mean FMF episode counts in 6 months from 3.22 ± 0.92 to 0.56 ± 0.52. CONCLUSIONS: The E148Q variant may amplify inflammation and modify disease courses. Patients with the E148Q variant experiencing typical FMF episodes should receive colchicine, but clinicians should exercise caution regarding alternative diagnoses. Additionally, the E148Q variant may increase acute phase reactants and disease severity in IgA vasculitis. However, to reach definitive conclusions on its treatment-modifying role in PFAPA, universal diagnosis and treatment response criteria should be adopted.

Adhesive small-bowel obstruction as a challenging complication of familial Mediterranean fever: A case-based review.

Familial Mediterranean fever (FMF) is the most common inherited autoinflammatory disorder, characterized by recurrent and self-limiting episodes of fever and serosal inflammation. Recurrent serositis may rarely lead to the formation of adhesions in the peritoneum, which may result in mechanical bowel obstruction. The symptoms, such as abdominal pain and vomiting, may mimic typical FMF attacks, resulting in misdiagnosis and severe morbidity, including strangulation and intestinal necrosis. Physicians are generally aware of other complications associated with FMF but reports on peritoneal adhesions and intestinal obstruction in English-language literature are inadequate to increase clinicians' awareness. Therefore, it is crucial to meticulously evaluate FMF patients presenting with abdominal pain and ileus because these symptoms could be due to adhesive small-bowel obstruction (ASBO). Furthermore, patients presenting with ASBO without a history of abdominal surgery should also be thoroughly evaluated, especially as it could be an initial presentation for an autoinflammatory disease. Herein, we present a pediatric case of FMF with the M694V homozygous mutation, complicated by ASBO while under colchicine treatment. Additionally, we provide a comprehensive review of the available literature on ASBO in FMF.

Subclinical rheumatic heart disease: A single center experience.

OBJECTIVE: Rheumatic heart disease (RHD) is still a major cause of morbidity and mortality in developing countries. The aim of the present study was to investigate asymptomatic RHD cases diagnosed by echocardiography without any acute rheumatic fever (ARF) history and to present the follow-up results. METHODS: Children who had been admitted to the pediatric cardiology department between 2011 and 2017 for various reasons (e.g., sport participation and palpitation) and diagnosed with RHD by echocardiography without a history of ARF were included the study. Echocardiographic findings of the patients were evaluated retrospectively. RESULTS: A total of 75 (55 girls and 20 boys) patients were included in the study. The median age of the cases was 13.6 (minimum 5 and maximum 18) years. The median follow-up period was 19.2 months, whereas the longest follow-up period was 66 months. At the time of admission, pathological valvular insufficiency was present only in the mitral valve in 69 (89.3%) cases, only in the aortic valve in 2 (2.7%) cases, and in both aortic and mitral valve in 6 (8%) cases. Of the cases, 40 (60%) were diagnosed as borderline RHD at the time of admission, and 30 (40%) as definite RHD according to the World Heart Federation criteria. Of these cases, 88% remained the same as borderline RHD, and the findings of two patients improved from definite to borderline RHD. RHD of four patients deteriorated from borderline to definite RHD, and in two patients, valvular insufficiency completely resolved during the follow-up period. None of the cases needed valvular replacement. CONCLUSION: RHD is still a serious health problem in Turkey. The sensitivity of echocardiography in detecting subclinical mild or asymptomatic cases is well known. For this reason, although it is not yet applied as a routine study, it is important to start the nationwide echocardiographic screening program.