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1.
Clin Nucl Med ; 49(3): e123-e124, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38271241

RESUMO

ABSTRACT: A 77-year-old man with a personal history of familial Mediterranean fever presented with a slowly enlarging tumefaction of the left abdominal wall and persistent inflammatory syndrome despite good adherence to colchicine. 18 F-FDG PET/CT showed a hypermetabolic muscular mass of the abdominal wall along with other hypermetabolic lesions including a peritoneal mass and several subcutaneous soft tissue nodules. CT-guided needle biopsy led to the diagnosis of a muscular localization of a malignant peritoneal mesothelioma, which is an extremely rare complication of familial Mediterranean fever. Six courses of chemotherapy with carboplatin and pemetrexed allowed an almost complete response.


Assuntos
Febre Familiar do Mediterrâneo , Mesotelioma Maligno , Mesotelioma , Neoplasias Peritoneais , Masculino , Humanos , Idoso , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Febre Familiar do Mediterrâneo/tratamento farmacológico , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Mesotelioma/complicações , Mesotelioma/diagnóstico por imagem , Fluordesoxiglucose F18 , Mesotelioma Maligno/complicações , Neoplasias Peritoneais/complicações , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/patologia
2.
Mod Rheumatol ; 34(3): 607-613, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-37267199

RESUMO

OBJECTIVES: In our study, we investigated the presence of subclinical enthesitis by ultrasonography (US) in asymptomatic patients with enthesitis-related arthritis (ERA) and sacroiliitis associated with familial Mediterranean fever (FMF). METHODS: A total of 50 patients, including 35 patients with ERA and 15 with sacroiliitis associated with FMF, were included in the study. All patients were evaluated with US by a paediatric radiologist. Enthesis of seven tendons (common extensor and flexor tendons, quadriceps tendon, proximal and distal patellar tendon, Achilles tendon, and plantar fascia) was examined on both sides. RESULTS: Subclinical enthesitis was detected in 10 ERA (28.5%) and three FMF (20%) patients. Enthesitis was radiologically diagnosed in 16 (2.3%) out of 700 evaluated entheseal sites. The most frequent sites of enthesitis were Achilles (37.5%) and quadriceps (31.3%) tendons. All patients were in clinical remission and had no active complaints, and acute phase reactants were within normal limits. Therefore, the patients were followed up without treatment change. However, disease flare-up was observed in three of these patients (23.1%) during the follow-up, and their treatments were intensified. CONCLUSIONS: Our results showed that the US can be particularly helpful in detecting subclinical enthesitis and predicting disease flare-ups.


Assuntos
Tendão do Calcâneo , Artrite Juvenil , Entesopatia , Febre Familiar do Mediterrâneo , Sacroileíte , Criança , Humanos , Sacroileíte/complicações , Sacroileíte/diagnóstico por imagem , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Exacerbação dos Sintomas , Entesopatia/complicações , Entesopatia/diagnóstico por imagem , Artrite Juvenil/complicações , Tendão do Calcâneo/diagnóstico por imagem
3.
Niger J Clin Pract ; 26(7): 957-962, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37635580

RESUMO

Background and Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disorder. Typical clinical manifestations are self-limiting attacks of recurrent fever, abdominal pain, arthralgia, and chest pain due to aseptic polyserositis. Renal involvement is common in FMF patients. Shear wave elastography (SWE) is a noninvasive method that provides the measurement of tissue stiffness. In this study, we aimed to show that SWE can be used as an adjunctive method for evaluating renal involvement in children with FMF. Materials and Methods: Our study group consists of 79 pediatric FMF patients and 79 control individuals. The study was planned prospectively. The variables, such as age, height, weight, and body mass index (BMI) of the patient and control groups, were kept in a similar way in order not to be affected by the differences. The right and left kidney sizes, parenchymal thicknesses, and SWE values in both groups were compared. The parenchymal stiffness degrees of the kidneys were quantified by shear modulus values in kilopascals. Results: In our study, no statistically significant difference was found between the control and patient groups in terms of the right and left kidney longitudinal dimensions, transverse dimensions, and parenchymal thicknesses. When the kidneys were evaluated in terms of the right and left kidney stiffness values, the stiffness values in the patient group were significantly higher in both kidneys compared with those in the control group (P < 0.001). Conclusions: SWE can be a noninvasive quantitative imaging method that can be used to evaluate kidney involvement by detecting changes in kidney stiffness in children with FMF.


Assuntos
Febre Familiar do Mediterrâneo , Rim , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Febre Familiar do Mediterrâneo/patologia , Humanos , Criança , Rim/diagnóstico por imagem , Rim/patologia , Técnicas de Imagem por Elasticidade , Masculino , Feminino , Tamanho do Órgão , Elasticidade
4.
Artigo em Inglês | MEDLINE | ID: mdl-37422403

RESUMO

OBJECTIVE: The objective of this retrospective study was to evaluate the mandibular cortical and trabecular morphology and microarchitecture of patients with familial Mediterranean fever (FMF) and compare them to those of healthy individuals by examining radiomorphometric indices on panoramic radiographs. STUDY DESIGN: We examined a group of 56 FMF patients aged 5 to 71 years and an age- and sex-matched control group of individuals with no systemic diseases. We classified the FMF and control groups according to age and sex and the FMF group according to colchicine use. We evaluated the quantitative radiomorphometic indices of gonial index, antegonial index, molar cortical thickness, mental index, panoramic mandibular index, and lacunarity, and the qualitative mandibular cortical index on all panoramic radiographs and performed between and within group analysis. RESULTS: Mean gonial index, antegonial index, and molar cortical thickness values of the FMF group were significantly smaller than those of the control group. Significantly fewer patients in the FMF group were classified as mandibular cortical index type 1 compared to the control group. There were no significant differences in quantitative index values according to colchicine use in the FMF group or regarding the categorical parameters of age, sex, and mandibular cortical index classification. CONCLUSIONS: Radiomorphometric values of the mandibular basal cortex posterior to the mental foramen differ significantly in FMF patients compared to healthy counterparts. Dentists should note mandibular morphologic changes indicative of low bone density when examining panoramic images of patients with this disease.


Assuntos
Densidade Óssea , Febre Familiar do Mediterrâneo , Humanos , Estudos Retrospectivos , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Radiografia Panorâmica/métodos , Colchicina/uso terapêutico
5.
PLoS One ; 18(6): e0288170, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37390096

RESUMO

Familial Mediterranean fever (FMF) is a genetic condition that may cause loss of bone mineral density (BMD) due to chronic inflammation. Previously, fractal dimension (FD) analysis values of mandibular cortical bone were shown to be lower in osteoporosis. Therefore, FD might be considered as an auxiliary tool to refer patients for dual-energy x-ray absorptiometry (DXA), which is the gold standard for BMD measurement. The purpose of this cross-sectional retrospective study was to evaluate trabecular and cortical microarchitecture of the mandible with FD analysis on panoramic radiographs in a subpopulation of FMF. Also, the effect of colchicine use was investigated. Forty-three FMF patients, aged between 10.8 and 71.2 years, and age- and gender-matched control group consisting of patients, who had no systemic diseases, were included. Demographic information such as age and gender, and colchicine use were recorded. In terms of age, the patients were classified as <30 and 30< years. On each panoramic radiographs five regions of interest were selected on the mandible as: 1- premolar, 2- molar, 3- angular, 4- condylar, and 5- basal cortical bone regions on right (R) and left (L) sides. Statistical significance was accepted at p<0.05 level. Intra- and inter-observer agreements demonstrated good to excellent consistency. In FMF patients, L3 and L4 values were higher, whereas L5 values were lower (p<0.05) than the control group. In terms of age, the difference between groups was insignificant in FMF patients (p>0.05), whereas in control group R3 and L4 values were higher in the 30< age group (p<0.05). Regarding gender and colchicine use, the difference between groups was insignificant (p>0.05). FMF disease might be a candidate for referral to DXA examination based on decreased bone density in the mandibular cortex detected by FD measurements on routine panoramic radiographs. Further studies are warranted to ascertain this relationship.


Assuntos
Febre Familiar do Mediterrâneo , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Estudos Retrospectivos , Estudos Transversais , Fractais , Colchicina/uso terapêutico
6.
Ultrasound Q ; 39(3): 171-178, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-36943738

RESUMO

ABSTRACT: The aims of this study were to evaluate the kidneys of patients with familial Mediterranean fever (FMF) noninvasively and quantitatively using 2-D shear wave elastography (SWE) and to reveal the diagnostic efficacy of SWE in FMF-induced renal involvement. Healthy controls, FMF patients, and FMF patients with proteinuria were included in the study, and differences in renal stiffness values between the groups were examined. In addition, a relationship between age, sex, height, weight, body mass index, serum erythrocyte sedimentation rate, C-reactive protein, glomerular filtration rate, and renal stiffness values was evaluated. A total of 120 subjects, including 60 controls, 41 FMF patients without proteinuria, and 19 FMF patients with proteinuria, were enrolled in the study. Renal stiffness values were found to be significantly higher in the group with FMF compared with the control group. In addition, the values in the proteinuria group were higher than both the control group and FMF patients without proteinuria ( P < 0.001). A significant positive correlation was found between the renal stiffness value and C-reactive protein. According to receiver operating characteristic analysis, the mean renal stiffness value was 7.905 kPa or greater to determine FMF-induced proteinuria. The current study shows that renal stiffness values were higher in FMF patients compared with the normal population and the values showed further increase in the presence of proteinuria, which indicates a more advanced stage of renal involvement of the disease. These findings reveal that SWE can be used as a noninvasive diagnostic tool in the diagnosis, follow-up, and evaluating the severity of FMF.


Assuntos
Técnicas de Imagem por Elasticidade , Febre Familiar do Mediterrâneo , Humanos , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Proteína C-Reativa , Rim/diagnóstico por imagem , Proteinúria/diagnóstico por imagem
7.
J Clin Ultrasound ; 51(1): 177-183, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36251543

RESUMO

PURPOSE: To investigate the changes in kidney elasticity in patients with familial Mediterranean fever using the non-invasive diagnostic method of shear wave elastography (SWE). METHODS: The kidney elasticity of 35 FMF patients and 23 healthy control subjects was evaluated with SWE. The relationships were evaluated of the SWE values with eGFR, microproteinuria, FMF severity score, number of attacks per month, and colchicine doses of the FMF patients. RESULTS: The kidney stiffness and velocity values of the FMF patients were found to be higher than those of the control group (p < 0.001). A negative correlation was found between the renal stiffness and velocity values and the colchicine dose (r = -0.48, p = 0.004, and r = -0.50, p = 0.003, respectively). CONCLUSION: The results of the current study demonstrated that the SWE values of the FMF patients were significantly higher than those of the control group. SWE can be used as an alternative method in the follow up of FMF patients. In addition, a negative correlation was determined between the colchicine dose and renal stiffness. This suggests that SWE values could be used in the adjustments of colchicine doses. However, there is a need for further studies with greater numbers of patients to support this hypothesis.


Assuntos
Técnicas de Imagem por Elasticidade , Febre Familiar do Mediterrâneo , Humanos , Técnicas de Imagem por Elasticidade/métodos , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Febre Familiar do Mediterrâneo/tratamento farmacológico , Rim/diagnóstico por imagem , Colchicina/uso terapêutico , Elasticidade
8.
Oral Radiol ; 39(2): 312-320, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-35854189

RESUMO

AIM: It was aimed to evaluate the bone microarchitecture of children with FMF in the city of Tokat, where the disease is highly prevalent, in Turkey, one of the countries where familial Mediterranean Fever (FMF) disease is the most common, using mandibular indexes and fractal dimension analysis on panoramic radiography. METHODS: In this retrospective study, the results were evaluated and compared using the mandibular cortical index (MCI), the mental index (MI), the panoramic mandibular index (PMI), and the fractal dimension analysis of six different regions (condyle, angulus, and interdental) on dental panoramic radiographs in 124 children with FMF and 124 healthy children. The data were analyzed using the IBM SPSS V23. RESULTS: The distribution of MCI in children with FMF was similar to the control group (p > 0.05). The mean MI (3.59) values in FMF patients were statistically higher than the control group (p = 0.016). No statistically significant difference was found in PMI between the patients with FMF and the control group (p > 0.05). No statistically significant difference was found between the mean fractal dimension (FD) values according to the groups (p > 0.05). CONCLUSION: Trabecular bone microarchitecture of children with FMF is similar to healthy children. There is no correlation between the duration of colchicine use and bone microarchitecture.


Assuntos
Febre Familiar do Mediterrâneo , Fractais , Humanos , Criança , Estudos Retrospectivos , Radiografia Panorâmica/métodos , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Densidade Óssea , Mandíbula/diagnóstico por imagem
9.
J Clin Ultrasound ; 51(4): 715-722, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36449313

RESUMO

OBJECTIVE: The most significant complication in familial mediterranean fever (FMF) patients is dysfunction and organ failure developing depending on amyloid deposition in organs. The golden standard for showing amyloid deposition is the biopsy; however, tissue stiffness was examined by shear wave elastography as a non-invasive method in a restricted number of studies conducted, and it is considered that amyloid deposition can be shown indirectly. In our study, we aimed to indirectly evaluate amyloid deposition in organs with Shear wave and Doppler ultrasonography and to reveal its relationship with MEFV gene mutation analysis. METHOD: 42 FMF patients with normal thyroid and renal function tests and 35 participants with no FMF symptoms were included in our study. FMF patients were grouped depending on their MEFV mutation analyses. Thyroid, salivary glands, and renal parenchymal tissue stiffness were evaluated by shear wave elastography. Thyroidal artery and both renal artery resistances were evaluated by Doppler ultrasonography. RESULTS: Both parotis gland, thyroid and renal parenchymal stiffness and arterial vascular resistances in the patient group were found higher than the control group. A significant difference was not found in any parameters in classification based on gender. Tissue stiffness and vascular resistance values in the patient group with M694V homozygote mutation were found statistically significantly higher than the other mutation groups (p < 0.001). CONCLUSION: Our study shows that identifying genetic mutation type in FMF patients will help determine possibly amyloidosis risk. Imaging of tissue stiffness by shear wave elastography and evaluation of vascular resistance by Doppler can be useful for routine screening of those patients.


Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Humanos , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Febre Familiar do Mediterrâneo/genética , Pirina/genética , Amiloidose/diagnóstico por imagem , Amiloidose/genética , Amiloidose/complicações , Mutação , Ultrassonografia/efeitos adversos
10.
Ultrasound Q ; 39(3): 165-170, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-36165616

RESUMO

ABSTRACT: Familial Mediterranean fever (FMF) is an autoinflammatory disease and an important health problem in countries bordering the eastern Mediterranean, including Turkey. In this study, we aimed to evaluate possible tissue stiffness changes that may develop in the liver and spleen in adult FMF patients with shear wave elastography (SWE), and its usability as an auxiliary imaging method that will be able to provide additional advantage in clinical follow-up. Seventy-five adult FMF patients and 73 adult volunteer were included in the study. Examination was performed through an intercostal space where the liver and spleen were clearly visible. The parenchymal stiffness degrees of the liver and spleen were quantified by shear modulus values in kilopascals. Differences in stiffness values of the liver and spleen between the 2 groups were examined. Liver stiffness value (LSV) was found to be statistically significantly higher in the FMF group. Although the spleen stiffness value (SSV) was found higher in the FMF group, the difference between the groups was not statistically significant. Increased LSVs in patients with FMF can be quantitatively demonstrated by the 2-dimensional SWE method, and SWE may be useful as an auxiliary imaging method in the follow-up of patients with FMF for this purpose. The LSV and SSV obtained in this study may be useful as reference stiffness values for both healthy individuals and those with FMF.


Assuntos
Técnicas de Imagem por Elasticidade , Febre Familiar do Mediterrâneo , Humanos , Adulto , Baço/diagnóstico por imagem , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Técnicas de Imagem por Elasticidade/métodos , Fígado/diagnóstico por imagem , Valores de Referência
12.
Br J Radiol ; 94(1128): 20210237, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34520686

RESUMO

OBJECTIVES: Amyloid deposits in a visceral organ can contribute to tissue stiffness that could be measured with shear wave elastography (SWE). We aimed to investigate changes in organ stiffness in conjunction with laboratory parameters in patients with Familial Mediterranean Fever (FMF) and amyloidosis. METHODS: This prospective study included 27 FMF patients, 11 patients with amyloidosis, and 38 healthy controls. Median shear wave elasticity values of the liver, spleen, both kidneys, and pancreas on SWE were compared among study and control groups. The mean values of CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) were compared by the t-test and the median of SAA (serum amyloid A protein) was compared with the Mann-Whitney U test between FMF groups with and without amyloidosis. Spearman's correlation analysis was performed to reveal the association between stiffness values and laboratory parameters. RESULTS: The median liver, spleen, kidney, and pancreas elasticity values were significantly higher in the FMF group with amyloidosis compared to control subjects. The median kidney stiffness values in the FMF group with or without amyloidosis were significantly higher compared to control subjects. Median liver stiffness values in FMF patients with amyloidosis were significantly higher than FMF patients without amyloidosis. There were statistically significant positive correlations between the CRP (p = 0.001, r = 0.56), ESR (p = 0.001, r = 0.61), and SAA (p = 0.002, r = 0.53) levels with spleen stiffness, and CRP (p = 0.006, r = 0.48) and ESR (p = 0.001,r = 0.61) levels with pancreas stiffness, and ESR (p = 0.004, r = 0.51) levels with the left kidney stiffness. CONCLUSION: SWE could be a potential tool for noninvasive follow-up of FMF patients and also amyloid deposition. ADVANCES IN KNOWLEDGE: Both acute inflammation and amyloidosis in the FMF patients could increase organ stiffness.


Assuntos
Amiloidose/diagnóstico por imagem , Técnicas de Imagem por Elasticidade/métodos , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Rim/diagnóstico por imagem , Fígado/diagnóstico por imagem , Pâncreas/diagnóstico por imagem , Baço/diagnóstico por imagem , Adolescente , Amiloidose/patologia , Criança , Febre Familiar do Mediterrâneo/patologia , Feminino , Humanos , Rim/patologia , Fígado/patologia , Masculino , Pâncreas/patologia , Estudos Prospectivos , Baço/patologia
13.
Arq Bras Oftalmol ; 85(4): 382-388, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34586239

RESUMO

PURPOSE: In this study, we aimed to show whether a difference exists between retinal and choroidal microcirculation findings between patients with familial Mediterranean fever and healthy controls. METHODS: Thirty-two patients with familial Mediterranean fever and 30 healthy controls were included in the study. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and intraocular pressure measurement. The AngioVue optical coherence tomography angiography device (Optovue, Fremont, CA) with split-spectrum amplitude-decorrelation angiography was used to evaluate and examine the retinal microvascular structure. Three-dimensional en face Optical coherence tomography angiography images were obtained by examining the macula using the 3 x 3 mm scanning protocol in the Angio Retina mode and the optic nerve using the 3 x 3 mm scanning protocol in the Angio Disk mode. All the patients' right eyes were examined. RESULTS: A total of 62 subjects were included in the study, of whom 32 (53.3%) were female and 30 (46.7%) were male. No statistically significant difference was found between the two groups in terms of optic nerve head or radial peripapillary capillary vessel density. On examination, the superficial capillary plexuses were statistically similar between the two groups, but the deep capillary plexus vessel density in the parafovea, superior hemi, temporal, and superior areas were significantly lower in the patients with familial Mediterranean fever. CONCLUSIONS: We found that the capillary plexus vessel density was significantly lower in the parafovea, superior hemi, temporal, and superior regions in the patients with familial Mediterranean fever than in the control group. Therefore, OCTA, a noninvasive study, may be useful for understanding the systemic effects of familial Mediterranean fever.


Assuntos
Febre Familiar do Mediterrâneo , Disco Óptico , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Feminino , Angiofluoresceinografia/métodos , Humanos , Masculino , Retina , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos
14.
Ophthalmic Genet ; 41(3): 257-262, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32372681

RESUMO

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy controls. The vessel densities (VDs) of superficial (SVP) and deep vascular plexus (DVP) of the retina, and choriocapillaris, foveal avascular zone (FAZ) perimetry, foveal VD 300µ around the FAZ (FD-300), acirculatory index (AI) and non-flow area were measured with  optical coherence tomography angiography (OCT-A). The FMF and control groups were matched for age and gender. Compound heterozygous pathogenic variants were excluded. Thirty-eight FMF patients with M694V mutations (28 heterozygous and 10 homozygous) and 40 healthy controls were included. The two groups were similar with the regard to age and gender (P=0.88 and P=0.49, respectively). None of the investigated parameters, including the vessel densities of the SVP and DVP, and choriocapillaris, FAZ perimetry, FD-300, AI, and non-flow area showed a statistically significant difference between the FMF and control groups. The macular vessel density measurements and FAZ parameters of FMF patients with M694V mutations do not differ from age- and sex-matched healthy controls.


Assuntos
Febre Familiar do Mediterrâneo/patologia , Fóvea Central/patologia , Macula Lutea/patologia , Mutação , Neovascularização Patológica , Pirina/genética , Tomografia de Coerência Óptica/métodos , Adulto , Estudos de Casos e Controles , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Febre Familiar do Mediterrâneo/genética , Feminino , Fóvea Central/diagnóstico por imagem , Fóvea Central/metabolismo , Marcadores Genéticos , Humanos , Macula Lutea/diagnóstico por imagem , Macula Lutea/metabolismo , Masculino
15.
Arch Endocrinol Metab ; 64(1): 66-70, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32187261

RESUMO

Objective Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Subjects and methods The study was conducted by the Endocrinology and Metabolism and Internal Medicine Departments. Thirty FMF patients and 30 age and gender-matched healthy controls were enrolled in the study. Free thyroxin (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), and anti-thyroid peroxidase (anti-TPO) autoantibodies were investigated. Detailed thyroid grayscale and Doppler Ultrasonography examinations and shear-wave elastosonography (SWE) were performed in the patient and control groups. Results Anti-TPO was detected in 24% (n = 7) of the patients. On the grayscale US, mean thyroid volumes were similar between the FMF and the control groups (p > 0.05). By Doppler US, thyroid vascularity observed was detected in 10.3% (n = 3) of the patients. SWE revealed that the mean velocity value of right vs. left lobe in the patient group was 1.77 ± 0.45 m/s and 1.95 ± 0.51 m/s, respectively. Compared to the control group, the mean velocity values were significantly higher in the right (p = 0.004) and left (p = 0.01) lobes of the patient group. The mean stiffness value in the patient group was also significantly higher in the right and left lobes [10.13 ± 5.65 kPa (p = 0.005) and 12.24 ± 6.17 kPa (p = 0.02), respectively]. Conclusion Recognizing the complications of FMF early in the course of the disease is as important as the early diagnosis of the disorder. Based on this, thyroid functions and changes in its structure should be evaluated carefully for early diagnosis of a possible coexisting thyroid disorder. Arch Endocrinol Metab. 2020;64(1):66-70.


Assuntos
Autoanticorpos/imunologia , Autoimunidade/imunologia , Febre Familiar do Mediterrâneo/imunologia , Febre Familiar do Mediterrâneo/fisiopatologia , Glândula Tireoide/imunologia , Adulto , Autoanticorpos/sangue , Estudos de Casos e Controles , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Feminino , Humanos , Iodeto Peroxidase/sangue , Iodeto Peroxidase/imunologia , Masculino , Tireotropina/sangue , Tireotropina/imunologia , Tri-Iodotironina/sangue , Tri-Iodotironina/imunologia , Ultrassonografia Doppler
16.
Georgian Med News ; (298): 70-74, 2020 Jan.
Artigo em Russo | MEDLINE | ID: mdl-32141853

RESUMO

Family Mediterranean fever (FMF, Periodic disease) is a hereditary autosomal recessive disease and belongs to orphan diseases. Abdominal pain syndrome in this pathology is accompanied by various complaints from the gastrointestinal tract. The aim of the study was to study the state of the gastrointestinal tract in children with FMF. We observed 66 children aged 4 to 18 years with genetically confirmed FMF. The most frequent complaints were complaints of vomiting - 33.3% of cases and liquefied stools - 24.2% and nausea - 16.7% of cases. Erosive changes in the upper gastrointestinal tract were most often observed in the esophagus (up to 15.4%) during the attack and outside it. In endoscopic examination of the colon during the attack, changes in CO were significantly more common.


Assuntos
Dor Abdominal/etiologia , Endoscopia/métodos , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Trato Gastrointestinal/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Colo , Humanos
17.
Arch. endocrinol. metab. (Online) ; 64(1): 66-70, Jan.-Feb. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1088765

RESUMO

ABSTRACT Objective Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Subjects and methods The study was conducted by the Endocrinology and Metabolism and Internal Medicine Departments. Thirty FMF patients and 30 age and gender-matched healthy controls were enrolled in the study. Free thyroxin (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), and anti-thyroid peroxidase (anti-TPO) autoantibodies were investigated. Detailed thyroid grayscale and Doppler Ultrasonography examinations and shear-wave elastosonography (SWE) were performed in the patient and control groups. Results Anti-TPO was detected in 24% (n = 7) of the patients. On the grayscale US, mean thyroid volumes were similar between the FMF and the control groups (p > 0.05). By Doppler US, thyroid vascularity observed was detected in 10.3% (n = 3) of the patients. SWE revealed that the mean velocity value of right vs. left lobe in the patient group was 1.77 ± 0.45 m/s and 1.95 ± 0.51 m/s, respectively. Compared to the control group, the mean velocity values were significantly higher in the right (p = 0.004) and left (p = 0.01) lobes of the patient group. The mean stiffness value in the patient group was also significantly higher in the right and left lobes [10.13 ± 5.65 kPa (p = 0.005) and 12.24 ± 6.17 kPa (p = 0.02), respectively]. Conclusion Recognizing the complications of FMF early in the course of the disease is as important as the early diagnosis of the disorder. Based on this, thyroid functions and changes in its structure should be evaluated carefully for early diagnosis of a possible coexisting thyroid disorder. Arch Endocrinol Metab. 2020;64(1):66-70


Assuntos
Humanos , Masculino , Feminino , Adulto , Febre Familiar do Mediterrâneo/fisiopatologia , Febre Familiar do Mediterrâneo/imunologia , Autoanticorpos/imunologia , Autoimunidade/imunologia , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Autoanticorpos/sangue , Glândula Tireoide/imunologia , Tri-Iodotironina/imunologia , Tri-Iodotironina/sangue , Tireotropina/imunologia , Tireotropina/sangue , Estudos de Casos e Controles , Ultrassonografia Doppler , Iodeto Peroxidase/imunologia , Iodeto Peroxidase/sangue
19.
J Clin Rheumatol ; 25(2): 69-73, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29596210

RESUMO

BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis. Various diseases were reported to be associated with FMF. The aim of this study was to investigate the frequency and characteristics of sacroiliitis in children with FMF. METHODS: Files of FMF patients who had been seen in 2 reference hospitals in Ankara were retrospectively evaluated. Patients with FMF and concomitant sacroiliitis were included to the study. All patients had magnetic resonance imaging evidence of sacroiliitis. RESULTS: Among 650 FMF patients, 17 (11 females, 6 males; mean age, 13.32 ± 4.24 years) (2.6%) of them were found to have sacroiliitis. Familial Mediterranean fever diagnosis was done prior to sacroiliitis diagnosis in 11 patients (65%) and concurrently or afterward in 6 patients (35%). Ten patients had isolated sacroiliitis, and 7 had associated diseases (5 enthesitis-related arthritis, 1 psoriatic arthritis, and 1 ulcerative colitis). Arthritis (59%), arthralgia (77%), leg pain (71%), heel pain (41%), and enthesitis (29%) were common complaints. Sacroiliac tenderness was detected in 77%, and M694V mutation in almost 90% of the patients. All patients received colchicine therapy. Additionally, 14 of them were treated with nonsteroidal anti-inflammatory drugs, 10 were on sulfasalazine treatment, and 7 of them were on biological agents. CONCLUSIONS: Sacroiliitis can be seen in patients with FMF during childhood, and M694V mutation seems to be a susceptibility factor for its development. Inflammatory low-back pain and leg and heel pain could suggest sacroiliitis.


Assuntos
Febre Familiar do Mediterrâneo/complicações , Sacroileíte/epidemiologia , Adolescente , Criança , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Febre Familiar do Mediterrâneo/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Pirina/genética , Estudos Retrospectivos , Sacroileíte/diagnóstico , Sacroileíte/genética , Turquia , Adulto Jovem
20.
J Ultrasound Med ; 36(5): 1045-1049, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28258641

RESUMO

An amyloid goiter is the presence of amyloid protein in the thyroid in sufficient amounts to produce enlargement of the gland, accompanied by fat deposition of varying extents. It can be seen in long-standing inflammatory disorders such as familial Mediterranean fever. Imaging findings depend on the amount of fat and amyloid deposition; however, the main imaging finding is diffuse fatty infiltration of the thyroid. Herein, the multimodality imaging features in 3 cases of amyloid goiters secondary to familial Mediterranean fever are presented.


Assuntos
Tecido Adiposo/diagnóstico por imagem , Amiloidose/diagnóstico por imagem , Diagnóstico por Imagem/métodos , Febre Familiar do Mediterrâneo/diagnóstico por imagem , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologia , Tecido Adiposo/patologia , Adulto , Amiloidose/complicações , Amiloidose/patologia , Diagnóstico Diferencial , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/patologia , Feminino , Bócio/complicações , Bócio/diagnóstico por imagem , Bócio/patologia , Humanos , Hipertrofia/complicações , Hipertrofia/diagnóstico por imagem , Hipertrofia/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Ultrassonografia
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