Hakan Emmungil

Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study

OBJECTIVEnThe primary aim of this study was to investigate the prevalence of amyloidosis and its related factors in a large number of FMF patients.nnnMETHODSnFifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questionnaire and medical records were collected. The diagnosis of amyloidosis was based on histological proof of congophilic fibrillar deposits in tissue biopsy specimens.nnnRESULTSnThere were 2246 FMF patients. The male/female ratio was 0.87 (1049/1197). The mean age of the patients was 34.5 years (S.D. 11.9). Peritonitis was the most frequent clinical finding and it was present in 94.6% of patients. Genetic testing was available in 1719 patients (76.5%). The most frequently observed genotype was homozygous M694V mutation, which was present in 413 (24%) patients. Amyloidosis was present in 193 patients (8.6%). Male sex, arthritis, delay in diagnosis, M694V genotype, patients with end-stage renal disease (ESRD) and family history of amyloidosis and ESRD were significantly more prevalent in patients with amyloidosis compared with the amyloidosis-negative subjects. Patients with homozygous M694V mutations had a 6-fold higher risk of amyloidosis compared with the other genotypes (95% CI 4.29, 8.7, P < 0.001).nnnCONCLUSIONnIn this nationwide study we found that 8.6% of our FMF patients had amyloidosis and homozygosity for M694V was the most common mutation in these patients. The latter finding confirms the association of homozygous M694V mutation with amyloidosis in Turkish FMF patients.

Autoimmune thyroid disease in ankylosing spondylitis

Although autoimmune thyroid disease is well known to be associated with primary Sjögren’s syndrome (SjS) and with various autoimmune diseases, it is less clear whether a similar association also exists for ankylosing spondylitis (AS). Therefore, we investigated the frequency of autoimmune thyroid disease in patients with AS. In this cross sectional study, 80 patients with AS fulfilling the 1984 Modified New York Criteria and 80 healthy subjects, age and sex-matched with AS patients, were included. As the positive control group, 62 female patients with primary SjS were also studied. All cases underwent thyroid ultrasonography (USG) by a single endocrinologist. Thyroid function tests and thyroid autoantibodies were measured. The diagnosis of Hashimoto’s thyroiditis (HT) was made if the patient had thyroid autoantibody positivity plus at least one of the following criteria: diffuse goiter with physical examination, abnormality in thyroid function tests, and parenchymal heterogeneity with USG. The chi-squared test and Fisher’s exact test were used to compare cases and controls. The p values <0.05 were considered statistically significant. The frequencies of parenchymal heterogeneity with USG (30 vs 11.3xa0%, pu2009=u20090.045), thyroid autoantibody positivity (13.8 vs 2.5xa0%, pu2009=u20090.017), and concomitant diagnosis of HT (10 vs 1.3xa0%, pu2009=u20090.034) were significantly higher in AS group compared to healthy controls. Among AS patients having HT, subclinical hypothyroidism was detected only in a single patient. Frequency of autoimmune thyroid disease was significantly higher in AS group, compared to healthy controls. Prospective studies are needed to see the clinical relevance of these findings and outcome in the long term.

A relationship between spinal new bone formation in ankylosing spondylitis and the sonographically determined Achilles tendon enthesophytes

AbstractSpinal new bone formation is a major but incompletely understood manifestation of ankylosing spondylitis (AS). We explored the relationship between spinal new bone formation and ultrasound (US)-determined Achilles enthesophytes to test the hypothesis that spinal new bone formation is part of a generalized enthesis bone-forming phenotype. A multicenter, case control study of 225 consecutive AS patients and 95 age/body mass index (BMI) matched healthy controls (HC) was performed. US scans of Achilles tendons and cervical and lumbar spine radiographs were obtained. All images were centrally scored by one investigator for US and one for radiographs, blinded to medical data. The relation between syndesmophytes (by modified Stoke Ankylosing Spondylitis Spine Score (mSASSS) and the number of syndesmophytes) and enthesophytes n(with a semi-quantitative scoring of the US findings) was investigated. AS patients had significantly higher US enthesophyte scores than HCs (2.1(1.6) vs. 1.6(1.6); pxa0=xa00.004). The difference was significant in males (pxa0=xa00.001) but not in females (pxa0=xa00.5). The enthesophyte scores significantly correlated with mSASSS scores (ρxa0=xa00.274, pxa0<xa00.0001) with the association even stronger in males (enthesophyte scores vs. mSASSS ρxa0=xa00.337, pxa0<xa00.0001). In multiple regression analysis, age, BMI, enthesophyte scores and disease duration were significantly associated with syndesmophytes in males, and keeping all other variables constant, increasing US enthesophyte scores increased the odds of having syndesmophytes by 67xa0%. Male AS patients that have more severe US-determined Achilles enthesophyte also associated spinal syndesmophytes suggesting a bone-forming gender-specific phenotype that could be a useful marker predicting of new bone formation.

Primary Systemic Al Amyloidosis Presenting as Temporal Arteritis

Temporal arteritis is most common vasculitis in elderly and imitated by miscellaneous disorders. Temporal artery biopsy is the gold standard test in the diagnosis of giant cell arteritis (GCA). Hereby, we describe a case of a 67-year-old man who presented initially with temporal arteritis; however, a lip biopsy then revealed AL amyloidosis. In this respect, temporal artery biopsy should be performed for definitive diagnosis of GCA particularly patients with systemic symptoms and treatment resistant.

Frequency of pulmonary hypertension in transthoracic echocardiography screening is not increased in Takayasu arteritis: Experience from a single center in Turkey

Objective Pulmonary hypertension (PH) may occur in Takayasu arteritis (TA), mostly due to pulmonary arteritis, but also due to left heart disease and/or chronic thromboembolism (CTE). Using transthoracic echocardiography (TTE), we investigated the frequency of PH caused by pulmonary arteritis. Methods This cross-sectional study included 70 patients with TA fulfilling the 1990 ACR criteria, 68 healthy controls, and 67 patients with systemic sclerosis (SSc) fulfilling the 1980 ACR criteria representing the disease control group. Patients with severe left heart disease or CTE were excluded. The ESC-ERS guideline definition was considered for diagnosis of PH. Results The mean systolic pulmonary artery pressure (SPAP) values in TA, SSc, and healthy control groups were 20.93±6.06, 31.57±12.75, and 18.88±5.39 mmHg, respectively. While the SPAP values were similar between TA and healthy groups, the SPAP values in the SSc group were significantly higher than in other groups. Based on conventional and/or magnetic resonance angiography findings, pulmonary arteritis was present in 4 out of 70 TA patients; however, PH was not detected in any patients with TA, including those with pulmonary arteritis. Conclusion The TTE findings suggested that the frequency of PH was not increased in TA. However, a low frequency of pulmonary arteritis in our series might have affected our results.

Exon 2: Is it the good police in familial mediterranean fever?

Objective Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.