The frequency of sarcopenia in haemophilia patients: Effects on musculoskeletal health and functional performance.

INTRODUCTION: In patients with haemophilia A, chronic arthropathy develops over time as a result of recurrent joint bleeds, which leads to restricted mobility and disability in the affected joints. There are limited studies in the literature evaluating sarcopenia in patients with haemophilia. The present study aims to determine the prevalence of sarcopenia in severe haemophilia-A patients and to evaluate musculoskeletal health and functional performance. METHODS: Thirty haemophilia-A patients and 26 adult male volunteers were enrolled in the study. For detection of sarcopenia, the appendicular skeletal muscle mass (ASM) obtained by bioelectrical impedance analysis (BIA) was divided by height squared (m2 ) to obtain the appendicular skeletal muscle mass index (ASMI) value. The thighs of both lower extremities were measured using the Modified Sonographic Tight Adjustment Ratio (STAR) method, which was obtained by adding the bilateral rectus femoris and vastus intermedius muscle thicknesses measured by ultrasound. Hand and quadriceps muscle strength (MS) were measured with a dynamometer. Physical performance was determined using the walking speed (WS), timed up-and-go test (TUGT), 5-repetition sit-to-stand test (5RSTS), and 6-min walk test (6MWT). Haemophilia Joint Health Score (HJHS) and Haemophilia Early Arthropathy Detection-Ultrasonography (HEAD-US) were also used to assess the musculoskeletal system. RESULTS: According to the modified STAR values calculated based on body mass index, sarcopenia was present in 15 (50%) of 30 patients. However, based on the ASMI-BIA values, sarcopenia was present in only two (6.6%) patients. A weak correlation was found between ASMI and HJHS, HEAD-US, WS, TUGT, and hand MS (left), while a moderate correlation was found with knee MS (right), knee MS (left), and 5RSTS. A strong correlation was found between the modified STAR score and HEAD-US, HJHS, knee MS (left), 5RSTS, TUGT, and WS, while a moderate correlation was found with hand MS (left), hand MS (right), and knee MS (right). CONCLUSION: This study showed muscle loss, joint mobility restrictions, and decreased functional capacity in haemophilia patients and demonstrated the presence of sarcopenia in these patients. The STAR measurement method showed stronger relationships with MS and functional performance values than ASMI measurements in terms of evaluating sarcopenia.

Distal interphalangeal joint involvement in patients with rheumatoid arthritis: Where are we?

Background/aim: Rheumatoid arthritis (RA) usually affects the wrist, metacarpophalangeal joint, and proximal interphalangeal joint of the hands. However, the distal interphalangeal (DIP) joints may also be involved in RA patients. In this study, we aimed to evaluate the frequency and associated factors of DIP joint erosion in patients with RA. Materials and methods: Medical records of patients with RA were reviewed retrospectively. Patients with major trauma affecting DIP joints, osteoarthritis, erosive osteoarthritis, psoriatic arthritis, systemic sclerosis, calcium pyrophosphate dihydrate disease, and gout were excluded. Anteroposterior hand X-rays were evaluated and patients were divided into groups according to autoantibody profile. Results: We reviewed 1213 patients with a mean age of 54.3 ± 12.5 years; 82.8% of them were female, and 95.4% had RA-type erosive changes. The DIP erosion rate was 12%. DIP involvement was generally unilateral and asymmetric, with the 3rd finger being the most commonly affected joint. Patients with DIP erosions had a significantly longer disease duration (p = 0.036). Older age was an independent predictive factor for DIP erosion (p = 0.001). Conclusion: In this large-sample study, we reported DIP joint involvement in patients with RA. Advanced age could have affected the results because hand erosions increase above 50 years in a healthy population. Our results may provide a different perspective on joint involvement in RA.

Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network.

The aim of this study was to analyze the pregnancy process, especially the Familial Mediterranean fever (FMF) disease course and attack types during pregnancy, and to examine the relationship between disease-related factors and female infertility in FMF patients. The study, which was planned in a multicenter national network, included 643 female patients. 435 female patients who had regular sexual intercourse were questioned in terms of infertility. Pregnancy and delivery history, FMF disease severity and course during pregnancy were evaluated. The relationship between demographic and clinical findings, disease severity, genetic analysis results and infertility was investigated. 401 patients had at least 1 pregnancy and 34 patients were diagnosed with infertility. 154 patients had an attack during pregnancy. 61.6% of them reported that attacks during pregnancy were similar to those when they were not pregnant. The most common attack symptoms were fever, fatigue and abdominal pain-peritonitis (96%, 87%, and 83%, respectively) in the pregnancy period. The disease-onset age, disease activity score, gene mutation analyses, and regular colchicine use (> 90%) were similar between the fertile and infertile groups, while the frequency of previous appendectomy and alcohol consumption rates were higher in individuals with infertility. Our results indicated no significant change in the frequency and severity of attacks during pregnancy. The low rate of infertility (7.8%) in our patients was noted. It has been suggested that the risk of FMF-related infertility may not be as high as thought in patients who are followed up regularly and received colchicine.

The impact of COVID-19 on familial Mediterranean fever: a nationwide study.

The study aimed to evaluate the impact of the coronavirus disease 2019 (COVID-19) in patients with familial Mediterranean fever (FMF) and to assess the relationships between FMF characteristics and severe COVID-19 outcomes such as hospitalization. The study was planned within a national network of 21 different centers. Demographics, FMF-related clinical and genetic characteristics, and COVID-19 outcomes were obtained. A total of 822 patients with FMF (mean age of 36 years) were included in the study. Fifty-nine of them (7%) had a COVID-19 diagnosis confirmed by real-time PCR test or chest CT findings. Most FMF patients with COVID-19 (58) had mild and moderate disease activity. All patients were on colchicine treatment. However, 8 of them (13.6%) were not compliant with colchicine use and 9 of them (15.3%) were colchicine resistant. Twelve FMF patients with COVID-19 were hospitalized. There were 4 patients requiring oxygen support. COVID-19 related complications were observed in 2 patients (1 thromboembolism, 1 acute respiratory distress syndrome). Hospitalized COVID-19 patients with FMF were older than non-hospitalized patients (median ages: 51 and 31 years, respectively; p: 0.002). Other FMF-related characteristics were similar between the groups. FMF-related characteristics were not found to be associated with poor outcomes in COVID-19. Thus, FMF may not be a risk factor for poor COVID-19 outcomes.

Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort.

The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between genotypic features, age of disease onset, clinical findings, and disease severity. A study was planned within a national network of 22 different centers. Demographics, clinical and laboratory findings, attack characteristics, drugs, pregnancy and birth history, disease severity, and gene mutation analyses were evaluated. Disease severity, assessed using a scoring system developed by Pras et al., was evaluated in relation to gene mutations and age of disease onset. A total of 979 patients (643 females and 336 males; mean age: 35.92 ± 11.97 years) with FMF were included in the study. Of a total of 585 pregnancies, 7% of them resulted in preterm birth and 18.1% resulted in abortions. During pregnancy, there was no FMF attack in 61.4% of patients. Of the MEditerranean FeVer (MEFV) mutations, 150 (24.3%) cases were homozygous, 292 (47.3%) cases were heterozygous, and 175 (28.4%) were compound heterozygous. Patients with homozygous gene mutations had more severe disease activity, earlier age of disease onset, higher rates of joint and skin involvement, sacroiliitis, and amyloidosis. Patients with compound heterozygous genotype displayed severe disease activity in close resemblance to patients with homozygous mutation. In addition, patients with compound heterozygous mutations had higher rates of protracted febrile myalgia and elevated fibrinogen levels. In 63.9% of compound heterozygous patients, age of onset was < 20 years, with greater disease severity, and high rates of attack frequency and colchicine resistance. Our results suggest that indicators for disease severity include early onset of disease and homozygous gene mutations. Furthermore, patients with compound heterozygous mutations displayed significant presentations of severe disease activity.

ASIA syndrome after BNT162b2 vaccination: Is it a distinct rheumatoid arthritis phenotype?

Vaccines are an identified cause of autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome). In this research, we aimed to investigate the remarkable features of patients, whom we classified as ASIA syndrome, developing rheumatoid arthritis (RA) after BNT162b2 vaccination. Patients who were asymptomatic before the BNT162b2 vaccination, developed chronic arthritis within 3 months after the vaccination, and fulfilled the 2010 American College of Rheumatology/European League Against Rheumatism RA classification criteria were enrolled in the study. Demographic, laboratory, clinical, and treatment characteristics were reviewed retrospectively. We identified ten patients developing RA following BNT162b2 vaccination. The median age was 54.5 years and six of them were female. The median time between vaccination and onset of symptoms was 7 days; seven patients had acute arthritis, and four had intermittent arthritis at the onset of the disease. Only three patients had a disease onset in the small joints of the hands. All patients had radiological erosions on hand X-rays. We reported a case series of patients, classifiable as having ASIA syndrome, who developed RA with radiological erosions after the BNT162b2 vaccine. The onset of the disease in joints different from the typically expected ones, along with the early development of erosions in hand X-rays, suggests that these cases may follow a course distinct from classic RA. RA that develops following mRNA vaccination may have an aggressive course, but studies with larger sample sizes are needed.

Frequency of idiopathic intracranial hypertension with ultrasound in patients with fibromyalgia: Relation with function, central sensitization, and neuropathic pain.

OBJECTIVE: The purpose of this study was to evaluate the prevalence of idiopathic intracranial hypertension (IIH) in fibromyalgia (FMS) patients by utilizing ultrasound to measure the optic nerve sheath diameter (ONSD), a marker of elevated intracranial pressure and also to investigate the relationship with function, fatigue, quality of life (QOL), central sensitization (CS) and neuropathic pain. METHODS: The study encompassed 80 female FMS patients and 75 healthy controls. Ultrasound was employed to measure the average ONSD in both groups. Conditions potentially elevating intracranial pressure were ruled out following neurological assessments. Pain (via visual analog scale, VAS), function (revised Fibromyalgia Impact Questionnaire, r-FIQ), QOL (Short Form-36, SF-36), fatigue (fatigue severity scale, FACIT), CS (Central Sensitization Scale), and neuropathic pain (Douleur Neuropathique-4) were evaluated. RESULTS: The average ONSD was significantly higher in the patient group than the control group. Patients with ONSD >5.5 mm consistent with IIH were categorized as Group 1 (n = 54, 67.5%), while those with a diameter of 5.5 mm and below-formed Group 2. VAS pain (p = .033) and FIQ-R scores (p = .033) were significantly higher in Group 1 than Group 2. Headache was found more common in Group 1. CONCLUSION: This study unveils a substantial occurrence (67.5%) of IIH in FMS patients, suggesting shared pathophysiological mechanisms contributing to symptoms like fatigue, headache, and cognitive dysfunction. Additionally, these findings implicate heightened functional impairment, CS, headache, and fatigue in FMS patients with IIH.

Pandemic of the century: COVID-19 in inflammatory rheumatic diseases of a national cohort with 3,532 patients.

Objectives: This study aimed to assess the clinical outcomes and risk factors for severe coronavirus disease 2019 (COVID-19) in patients with inflammatory rheumatic disease (IRD) of a national cohort. Patients and methods: The multicenter cross-sectional study was carried out between July 15, 2020, and February 28, 2021. Data collection was provided from a national network database system, and 3,532 IRD patients (2,359 males, 1,173 females; mean age: 48.7±13.9 years; range; 18 to 90 years) were analyzed. Demographics, clinics about rheumatic disease, comorbidities, smoking status, being infected with COVID-19, and the course of the infection were questioned by rheumatology specialists. Results: One hundred seventeen patients were infected with COVID-19, the hospitalization rate due to COVID-19 was 58.9%, and the mortality rate was 1.7%. There was no difference between the COVID-19 positive and negative groups in terms of rheumatic disease activities and receiving drugs. It was observed that patients with COVID-19 had worse compliance with isolation rules, and bacillus Calmette-Guérin (BCG) vaccination was less common. The mean age and the rate of smoking of hospitalized COVID-19 patients were higher than those without hospitalization. Conclusion: In this cohort, in which real-life data were analyzed, COVID-19 rates in IRD patients were similar to the general population for the same period. Compliance with the isolation rules and BCG vaccination attracted attention as components that reduce the risk of COVID-19 infection. The risk factors for hospitalization were older age and smoking.

The effect of polypharmacy on rheumatoid and psoriatic arthritis treatment: retrospective study.

Background: Rheumatoid arthritis (RA) and psoriatic arthritis (PsA) are chronic, progressive inflammatory diseases that can be accompanied by other diseases. In recent years, with the increase in the lifespan of individuals, the concept of polypharmacy has become more prominent. We aimed to show the prevalence of polypharmacy and the effects of polypharmacy on disease activity in RA and PsA. Methods: This study included PsA patients who had peripheral joint involvement and, RA patients. Since PsA has a heterogeneous clinical picture, only patients with peripheral joint involvement were included in the study and patients with inflammatory low back pain or radiological sacroiliitis or spondylitis, dactylitis or enthesitis were not included in the study due to homogeneity concerns. The numbers of medications used by the patients at the onset of their treatment and at sixth months into their treatment were recorded. Polypharmacy was accepted as the simultaneous use of at least five medications by the person. The Disease Activity Score 28 joints C-Reactive Protein (DAS-28 CRP) was used to assess disease activity for both disease. The modified Charlson Comorbidity Index (CCI) scores of the patients were calculated based on their chronic diseases. Results: The sample of the study included 232 RA and 73 PsA patients. Polypharmacy was present at the treatment onset in 115 (49.6%) of the RA patients and 28 (38.4%) of the PsA patients. At the sixth month of treatment, polypharmacy was present in the sixth month of the treatment in 217 (93.5%) RA and 61 (83.6%) PsA patients. The mean ages of the RA and PsA patients who were receiving polypharmacy treatment at the beginning were significantly older than the mean ages of those who were not receiving polypharmacy treatment. In both the RA and PSA groups, the patients with polypharmacy at the beginning had statistically significantly higher DAS-28 CRP scores at six months of treatment than those without polypharmacy at the beginning (p < 0.001). Conclusion: Polypharmacy was present both at the time of diagnosis and in the treatment process in the RA and PsA patients, and the presence of polypharmacy at the beginning of the treatment was among the factors that affected the treatment of these patients by significantly affecting their 6th-month DAS-28 CRP values.

Brucella as an unexpected cause of erythema nodosum.

Erythema nodosum (EN) is the most common panniculitis which affects individuals from all ages. Etiologically most of the cases are idiopathic EN and infections rank the second. Its clinical presentation is sudden, hot erythematous nodules or plaques in legs, knees or ankles with a diameter ranging between 1 and 5 cm. In the majority of cases, healing is observed within two to eight weeks without any scar tissues. It may occasionally manifest itself as the first symptom of systemic diseases such as sarcoidosis, inflammatory bowel diseases, Behçet's disease, and other rheumatological conditions. Therefore, EN cases must be carefully examined in terms of their etiologies. Herein, we report an interesting Brucella case presenting as a EN case consulted for rheumatological etiology investigation.

Infodemiology of Bell's palsy: Tracing the seasonality of facial paralysis.

BACKGROUND: Although there are a few studies on the seasonality of facial paralysis, no studies have utilized internet data for this purpose. The use of internet data to investigate diseases and user-contributed health-related content is increasingly prevalent, and has earned the name "infodemiology". OBJECTIVE: This study aims to use Google Trends data to investigate whether there is a seasonal variation in facial paralysis. METHODS: In this observational study, the search volume for the terms "facial paralysis" and "Bell's palsy" for a total of 19 countries was queried from Google Trends, selecting the time interval between January 2004 and October 2020. RESULTS: In the Cosinor analysis of data from a total of 19 countries, from both northern and southern hemisphere, a statistically significant seasonality was found in the search volume of facial paralysis. It was observed that facial paralysis searches peaked in spring in the northern hemisphere and in winter in the southern hemisphere. CONCLUSION: Internet search query data showed that facial paralysis has a seasonal variation, with peaks in spring for the northern hemisphere and winter for the southern hemisphere. Further studies are needed to understand the deviation between hemispheres and the cause of the peak in winter-spring season.

The attitudes of Turkish physicians in the treatment of fibromyalgia; is 'Pregabalinophobia' the new reality of pain medicine?

OBJECTIVES: This study aims to determine the treatment preferences of physicians interested in fibromyalgia treatment and to investigate their hesitations about prescribing pregabalin. METHODS: Our survey study was conducted between February 5 and 20, 2021. The survey forms were sent to the known email addresses and phone numbers of 1569 physical medicine and rehabilitation (PMR), algology, and rheumatology physicians. The replies to the surveys were checked for possible resubmissions. The pooled data were evaluated with the SPSS 22.0 statistical package program. Frequency distributions were calculated and presented as n, %. RESULTS: Four hundred and six PMR, rheumatology, and algology specialists fulfilled the study forms. About 59.0% of physicians stated that they prefer duloxetine as the first-line agent of fibromyalgia syndrome (FMS) treatment. Pregabalin was only 6.0% of the physicians' first choice for FMS. About 35.0% of the participating physicians stated that the PMR department should follow up FMS patients. About 44.3% of the participants noted that they refer FMS patients to other departments which interested in FMS treatment and do not want to follow-up FMS patients. About 81% agreed that pregabalin causes addiction. About 36.7% stated that at least 20% of the patients could abuse pregabalin and 97.8% of physicians stated that they were prejudiced about prescribing pregabalin to prisoners. Approximately two of the three physicians experienced an act of violence in their hospital regarding pregabalin prescribing. CONCLUSION: These data showed that the 'Pregabalinophobia' should be accepted. This condition is associated with life safety concerns of the physician not only from unreliability of the drug. It seems that the doctors have valid reasons to develop this prejudice.

Evaluation of pain in patients with COVID-19.

OBJECTIVES: A new type of coronavirus outbreak has emerged in China and caused a pandemic. World Health Organization (WHO) announced the official name of this disease 'COVID-19'. The main purpose of this study is to evaluate pain in COVID-19 patients. METHODS: Patients who were followed in the ward of an infectious diseases department because of possible or confirmed COVID-19 between May and September of 2020 were included in the study. The Turkish version of the Brief Pain Inventory (BPI) was applied. Demographic features, frequency, location, the intensity of pain, and response to analgesics were analyzed. RESULTS: A total of 178 participants were included in the study. Ninety-one (51.1%) of patients had pain complaints and the mean pain score (MPS) was 2.28±2.81 over 10. Fifty-nine (56.0%) of participants with pain required analgesic therapy and 41 (80.3%) of them showed ≥50% pain relief with simple analgesics. Twelve of the remaining 18 who did not get enough pain relief with simple analgesic were taking their analgesics pro re nata (PRN) rather than around the clock (ATC). Pain frequency and intensity and mean hospitalization duration (MHD) were similar between confirmed and possible cases. CONCLUSION: Regarding the results, we conclude that pain is not one of the challenging symptoms and easily manageable in patients with a mild-moderate intensity of COVID-19. Our results were not enough to make a correlation between pain and the clinical course of the disease. Further studies are required for the evaluation of pain including patients in intensive care units.

Familial Mediterranean fever: Health-related quality of life and associated variables in a national cohort.

OBJECTIVES: This study aims to evaluate the effectivity of Familial Mediterranean Fever Quality of Life (FMF-QoL) Scale for the measurement of QoL in patients with FMF and to perform correlations between related clinical variables in Turkish patients. PATIENTS AND METHODS: This multicenter prospective study performed between December 2017 and November 2018 included 974 FMF patients (334 males, 640 females; median age: 35; range, 26 to 45 years). Sociodemographic characteristics and clinical features were recorded. All participants were asked to complete the FMF-QoL Scale, Short Form-36 (SF-36), Hospital Anxiety and Depression Scale (HADS), Health Assessment Questionnaire (HAQ), and Functional Assessment of Chronic Illness Therapy (FACIT) Scale. RESULTS: The median FMF-QoL Scale score was 26. Higher FMF-QoL Scale scores were shown to be related to female sex, illiteracy or primary education, monthly low-income (US$<300), smoking, late-onset FMF (>20 years), a higher number of attacks per month (>1/month), and severe disease. FMF-QoL Scale scores were correlated negatively with subscales of SF-36, and positively with HADS-anxiety and HADS-depression scores, HAQ and FACIT. CONCLUSION: Female sex, smoking, lower educational status, more severe disease, fatigue, and functional impairment were associated with poor QoL. FMF-QoL Scale was noted as a valid and simple patient-reported outcome instrument and correlated with the SF-36 scale.