Coexistence of sarcoidosis and Hashimoto thyroiditis.

Sarcoidosis is a chronic, inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It can present with bilateral hilar lymphadenopathy, skin lesions, eye involvement and locomotor system findings. Hashimoto thyroiditis is an organ-specific autoimmune disease characterized by increased autoantibody synthesis. Sarcoidosis can involve different endocrine glands. Thyroid gland involvement may lead to increased thyroid function disorders and autoantibodies. Herein, we report an 80-year-old female patient with sarcoidosis and Hashimoto coexistence.

Development of Hodgkin lymphoma in a patient with sarcoidosis.

Sarcoidosis is a chronic granulomatous disease of unknown etiology characterized by non-caseified granulomas in many different organs and systems. The disease most frequently manifests with bilateral hilar lymphadenopathy and infiltrations in the lungs and skin, as well as with eye lesions. It may mimic a number of systemic diseases and/or accompany them. The development of lymphoma in patients with sarcoidosis or the co-occurrence of both diseases is rarely reported in the literature. In this paper we report a female patient followed up with sarcoidosis for three years who developed Hodgkin lymphoma, according to the results of the investigations and biopsy results.

Prevalence and significance of MEFV gene mutations in patients with sarcoidosis.

OBJECTIVES: Sarcoidosis is a chronic granulomatous disease. Pyrin has anti-inflammatory activity in the regulation of inflammasomes and is encoded by the Mediterranean fever (MEFV) gene. MEFV gene mutations trigger the inflammatory cascade and cause familial Mediterranean fever (FMF). A relationship between various rheumatic diseases and MEFV gene mutations has been demonstrated. The aim of this study was to determine the prevalence of the MEFV gene mutation in Turkish patients with sarcoidosis and to detect any possible correlation with disease phenotype. METHOD: The study included 78 sarcoidosis patients and 85 healthy subjects matched for age, gender, and ethnicity. MEFV gene mutations were investigated with the FMF strip assay, which is based on reverse hybridization of biotinylated polymerase chain reaction (PCR) products. RESULTS: Of the 78 patients with sarcoidosis, nine (11.5%) were found to be carriers of MEFV gene mutations. The distribution of these nine mutations were: three (3.8%) V726A, two (2.5%) E148Q, two (2.5%) M680I, one (1.3%) A744S, and one (1.3%) K695R. Carriers of M694V, M694I, R761H, and P369S were not detected in any of the sarcoidosis patients. None of the sarcoidosis patients were found to be compound heterozygous carriers. The prevalence of the MEFV gene mutation carrier detected in the healthy control group was 22.4%. The distribution of the 19 MEFV gene mutations found in the healthy controls was: nine (10.6%) E148Q, two (2.3%) M694V, one (1.2%) M694I, one (1.2%) M680I, two (2.3%) V726A, one (1.2%) A744S, two (2.3%) K695R, and one (1.2%) P369S. When compared with the control group, a lower prevalence of the MEFV gene mutation carrier was found in sarcoidosis patients but this was not statistically significant (p = 0.067). In nine patients found to be MEFV gene mutation carriers, higher serum erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels and higher numbers patients with arthritis, enthesitis, and ankle arthritis were found (p = 0.01, p = 0.04, p = 0.028, p = 0.05, p = 0.05, respectively). CONCLUSIONS: When we compared Turkish sarcoidosis patients with the healthy control group, we found a lower prevalence of MEFV gene mutations. In sarcoidosis patients, the MEFV gene mutation carrier was found to be related to high acute-phase responses, arthritis, and enthesitis. The existence of MEFV gene mutations may have a preventive role with regard to the development of sarcoidosis. Prospective studies that include larger patient populations are needed.

Sarcoidosis presenting as orbital pseudotumor.

Sarcoidosis is a systemic multiorgan disorder of unknown etiology characterized by a non-caseating granuloma reaction. Ocular involvement has been reported in 25-60% of the patients. Seven percent of the patients with sarcoidosis may first see an ophthalmologist due to ocular complaints. This report aims to present our diagnostic and treatment approach to a female patient with significant unilateral lacrimal gland swelling and musculoskeletal involvement, who was diagnosed with sarcoidosis on the basis of tests and histological studies.

Demonstrating disease activity in patients with rheumatoid arthritis. Is 18F FDG PET a sensitive method?

AIM: We aimed to investigate the relationship of fluor-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F FDG PET/CT) with clinical, laboratory parameters and conventional radiographs in patients with rheumatoid arthritis (RA). PATIENTS, MATERIAL, METHODS: 25 patients with RA diagnosis were evaluated by sociodemographic, clinical [duration of disease (year), the joints in which the complaints started, most recent joint involvement]; other parameters used in RA-specific clinical assessment [Steinbocker functional staging, disease activity score 28 (DAS 28 score), health assessment questionnaire score (HAQ score), general RA assessment (patients' and physicians' global assessment), patients' assessments of pain and general health condition (visual analog scale)], laboratory, radiological [conventional radiology of hand and foot joints], positron emission tomography [18F FDG PET visual total score and maximum standardized uptake value (SUVmax) total score] parameters. RESULTS: No significant correlation was detected between the 18F FDG PET total score and SUVmax total score of the patients and clinical, laboratory, and radiological parameters (p > 0.05). There was no relationship between the cut-off values determined according to the disease activity and 18F FDG PET/SUVmax total values (p > 0.05). CONCLUSIONS: In our study, no relationship was found between disease activity demonstrated by 18F FDG PET/CT in RA patients and clinical, laboratory, and radiological parameters. 18F FDG PET/CT appears to be a more sensitive method in demonstrating disease activity compared to other evaluated methods.

Fas/FasL promoter gene polymorphism in patients with rheumatoid arthritis.

OBJECTIVES: Fas/FasL is significantly involved in the pathogenesis of rheumatoid arthritis (RA). Fas/FasL gene polymorphism may be associated with susceptibility to rheumatoid arthritis and disease severity. AIM: To investigate the Fas 670 G/A and FasL 843 C/T genotype and allele frequency in patients with RA, and determine its potential association with susceptibility to the disease and the clinical parameters. METHODS: One hundred and one patients with RA and 105 healthy control subjects were enrolled in the study. Fas 670 A/G and FasL 843C/T genotype polymorphism was investigated by PCR-RFLP. Chi-square test was used for determining the genotype distribution and the allele incidence. RESULTS: There was no statistically significant difference between the patients with RA and the healthy subjects with respect to Fas-670 A/G and FasL-843C/T genotype distribution and allele frequency (P>0.05). While there was no statistically significant difference in disease severity and various clinical parameters, a correlation was detected between Fas-670 polymorphism and anti-CCP antibody and anemia (P<0.01 and P<0.03, respectively). CONCLUSIONS: Fas-670A/G and FasL-843C/T promoter gene polymorphisms are not considered to represent a major genetic risk factor for RA susceptibility and disease severity. However, based on these results, Fas-670 promoter polymorphism may modulate anti-CCP antibody synthesis and response in patients with rheumatoid arthritis.

FcgammaRIIa, IIIa and IIIb gene polymorphisms in Behçet's disease: do they have any clinical implications?

OBJECTIVE: Behçet's disease (BD) is a unique systemic vasculitis involving both arteries and veins of all sizes. Since Fcgamma receptors (FcgammaR) are important in mediating various immune effector functions, FcgammaR gene polymorphisms may affect the susceptibility to systemic inflammatory diseases such as BD. The aim of this study was to show the distribution of FcgammaRIIa, IIIa ve IIIb receptor gene polymorphisms in BD, and to investigate possible genotype-phenotype relationships. METHODS: In this cross-sectional study, FcgammaRIIa (H/H131, H/R131, R/R131), IIIa (F/F158, F/V158, V/V158), and IIIb (NA1/NA1, NA1/NA2, and NA2/NA2) receptor gene polymorphisms were investigated in 216 unrelated Turkish BD patients (M/F: 130/86) and in 241 healthy subjects, using an allele-specific polymerase chain reaction. RESULTS: The FcgammaRIIa R/R131 (p=0.019) and FcgammaRIIIa F/F158 genotypes (p=0.001) were found to be significantly more frequent in BD compared with healthy controls, whereas the FcgammaRIIIb genotypes were not (p=0.108). Allele analysis showed that the FcgammaRIIIa 158 (p=0.001) and FcgammaRIIIb NA2 (p=0.016) alleles were more frequent in BD than in healthy controls. In BD patients the FcgammaRIIIa V/V158 genotype was significantly associated with the presence of arthritis (p=0.002) and with an earlier disease onset (p=0.008), while the FcgammaRIIIb NA2/NA2 genotype was significantly associated with disease severity (p=0.02), vascular involvement (p=0.014), and pathergy positivity (p=0.02). CONCLUSION: We found that the genotype frequencies and allelic distributions of the FcgammaRIIa, FcgammaRIIIa and FcgammaRIIIb gene polymorphisms were significantly different between BD patients and healthy controls. In addition, certain FcgammaRIIIa and FcgammaRIIIb gene polymorphisms appear to be associated with an early disease onset, disease severity, the presence of arthritis, and vascular involvement in BD.