Medicine by Sfakianakis G. Alexandros: Clinical Rheumatology

Monday, December 21, 2020

Clinical Rheumatology

The Value of Serum Amyloid A Levels in Familial Mediterranean Fever to Identify Occult Inflammation During Asymptomatic Periods

Objective The aim of this observational study was to evaluate whether there was any correlation between the acute phase reactants in children with familial Mediterranean fever (FMF) during attack and attack-free periods. Methods The study was conducted between June 2016 and January 2018. Clinical features and laboratory parameters of children with FMF during attack and attack-free periods were recorded longitudinally. Results The cohort consisted of 168 children with FMF (84 boys, 84 girls). Median values of acute phase reactants during FMF attacks were 433.5 mg/L (34.0–1780.0 mg/L) for serum amyloid A (SAA), 56.7 mg/L (7.6–379.0 mg/L) for C-reactive protein (CRP), and 37.5 mm/h (5–100 mm/h) for erythrocyte sedimentation rate (ESR). Median values for the same tests in attack-free periods were 3.2 mg/L (0.1–25.0 mg/L), 1.7 mg/L (0.1–12.7 mg/L), and 8 mm/h (1–30 mm/h), respectively. Correlation analyses showed that SAA and CRP were highly correlated in FMF attack (r = 0.67, p < 0.01), but no correlation was found between SAA and ESR levels. C-reactive protein was elevated in 13.6%, ESR in 20.8%, and SAA in 28.5% of the patients during attack-free period. Age at onset, sex of the patients, and characteristics of attacks were found to be not associated with elevated SAA in attack-free period. On the other hand, having homozygous exon 10 mutation and having elevated CRP were found to be associated with high SAA in attack-free period. Conclusions C-reactive protein and SAA correlate well with FMF attacks. Therefore, checking for SAA during a FMF attack is not required. However, SAA seems to be the most sensitive method for demonstrating subclinical inflammation in attack-free period. Thus, checking SAA levels might be a valuable tool in selected FMF patients.

The Spectrum of Pericardial Involvement in Giant Cell Arteritis and Polymyalgia Rheumatica: A Systematic Review of Literature

Background Giant cell arteritis (GCA) is a systemic vasculitis that commonly co-occurs with polymyalgia rheumatica (PMR) in elderly patients. Pericardial disease is an unusual manifestation of these inflammatory conditions, which has been reported only in case reports and small observational studies. However, no extensive research has been performed to study the demographics and clinical history of GCA or PMR patients with concomitant pericardial features. As a result, the medical evidence to help guide the physicians when evaluating such individuals is limited. Objective To perform a systematic review of the medical literature in order to summarize the epidemiological and clinicopathological aspects of this unique association. Methods We conducted an extensive search of PubMed, Cochrane Library, Ovid, Google Scholar, and gray literature to identify all the cases of GCA and PMR with pericardial involvement. The demographics, clinical features, and outcomes of the final cohort were reviewed and analyzed. Results The analysis comprised 52 clinical cases (51 identified from 46 articles and 1 from the residents' clinic). These included 44 patients with GCA and 8 with PMR. The mean age at presentation was 69.5 years, with only 46% of patients older than 70 years. The most common abnormality was pericardial effusion (85%), and in 37%, the pericardial event was the initial disease manifestation. Although a significant proportion of the patients were symptomatic (69%), the classic cranial symptoms were present in only 40%. Overall, the outcome was good even in the presence of large-vessel disease, which is usually a poor prognostic factor in classic GCA. On group analysis, patients with PMR were more likely to develop cardiac tamponade (37.5%; odds ratio, 25.8; confidence interval, 2.2–297.5; p = 0.01), whereas those with GCA were more likely to have large-vessel vasculitis (43%; odds ratio, 5.18; confidence interval, 0.58–252.1; p = 0.04). Conclusions This study illustrates that patients with pericardial involvement represent a clinical phenotype of GCA (and possibly PMR), which is quite different from the cranial or large-vessel forms. These patients have a better prognosis likely due to younger age and presence of more overt symptoms resulting in early diagnosis.

The Relationship Between Autonomic Dysfunction of the Gastrointestinal Tract and Emotional Distress in Patients With Systemic Sclerosis

Background/Objectives We hypothesized that emotional distress in systemic sclerosis (SSc) patients with moderate to severe gastrointestinal (GI) dysfunction is associated with dysautonomia. We sought to determine (1) the clinical characteristics associated with emotional distress in SSc, (2) the odds of having dysautonomia in those with emotional distress, and (3) whether GI dysautonomia, as measured by the Survey of Autonomic Symptoms (SAS), correlates with GI dysautonomia on the Composite Autonomic Symptom Score-31 (COMPASS-31). Methods Clinical and demographic features from our prospective cohort study were compared among SSc patients with and without GI-associated emotional distress (University of California at Los Angeles Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0 well-being subscale >0.5 or ≤0.5) in cross-sectional analysis. Covariates/confounders independently associated with emotional distress were used to construct multivariable logistic regression models. The COMPASS-31 and SAS GI subdomains were compared with Spearman correlation. Results Forty-six patients with SSc were enrolled in the study. In univariate analyses, age (odds ratio [OR], 1.06; p = 0.026), severity of GI dysautonomia (COMPASS-31: OR, 1.41; p = 0.003), anti–centromere (A/B) antibodies (OR, 3.60; p = 0.044), and anti–PM-Scl (75/100) antibodies (OR, 0.15; p = 0.035) were associated with emotional distress. In the adjusted model, those with more severe GI dysautonomia remained more likely to have emotional distress (OR, 1.85; p = 0.026); those with anti–PM-Scl (75/100) antibodies were less likely to have emotional distress (OR, 0.03; p = 0.031). The SAS and COMPASS-31 GI subdomains moderately correlated (ρ = 0.68, p < 0.001). Conclusions In SSc, increased symptom burden related to GI dysautonomia is associated with emotional distress. Multidisciplinary approaches addressing both the physical and emotional needs of the SSc patient may be warranted to optimize patient care.

Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade?

Background/Objective Familial Mediterranean fever (FMF) is the most common autoinflammatory disease and is characterized by recurrent fever and serositis episodes. We aimed to share our 20-year FMF experience, clarify a phenotype-genotype correlation, and compare the characteristics and outcomes of pediatric FMF patients over the last 2 decades in this study. Methods This medical record review study included 714 pediatric FMF patients (340 females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 and January 2019 and followed up in our department. Demographic and disease characteristics, obtained from medical records of the patients, were compared between patients with M694V homozygosity and other genotypes and showed whether they were diagnosed before (n = 137) or after January 2010 (n = 577). χ2, Student t, and Mann-Whitney U tests were used to compare categorical and continuous variables between these groups. Results The most common symptoms were abdominal pain (92%), fever (89.5%), and arthralgia (64.5%). Mean ages at symptom onset and diagnosis were 5.16 ± 3.73 and 7.71 ± 3.87 years, respectively. M694V homozygosity was recorded in 111 patients (15.5%). Fever, arthralgia, arthritis, myalgia, erysipela-like erythema, colchicine resistance, and subclinical inflammation were more frequent, and mean disease severity score was higher in patients with M694V homozygosity. Fever, chest pain, and proteinuria were statistically more frequent in patients diagnosed before January 2010. Although M694V homozygosity rate was similar, patients diagnosed in the last decade had lower mean disease severity score. Conclusions With this study, we speculate that although genotype and delay in diagnosis were similar, patients diagnosed in the last decade have a milder disease severity.

The Experience With Health Care of Patients With Inflammatory Arthritis: A Cross-sectional Survey Using the Instrument to Evaluate the Experience of Patients With Chronic Diseases

Background Patients' experience with health care is becoming a key component for the provision of a patient-centered health care model. The aim of this study was to assess the experience with health care of patients with inflammatory arthritis and patient- and health care–related factors. Methods Patients responded to an anonymous survey provided by their treating clinical teams. The survey comprised the validated 12-item IEXPAC (Instrument to Evaluate the EXperience of PAtients with Chronic diseases) tool and demographic variables and health care–related characteristics that may affect patients' experience. Results A total of 359 of 625 surveys were returned (response rate, 57.4%). Overall, patient responses were positive (>60% gave "always/mostly" answers) for statements assessing the interaction between patients and health care professionals or patient self-management following health care professional guidance. However, positive patient responses for items regarding patient interaction with the health care system via the internet or with other patients were less than 13%. Only 25.6% of patients who had been hospitalized reported receiving a follow-up call or visit following discharge. In the bivariate analysis, experience scores were higher (better experience) in men, those seen by fewer specialists or by the same physician, and in patients treated with a fewer number of drugs or with subcutaneous/intravenous drugs. Multivariate analyses identified regular follow-up by the same physician and treatment with subcutaneous/intravenous drugs as variables associated with a better patient experience. Conclusions This study identifies areas of care for patients with inflammatory arthritis with the potential to improve patients' experience and highlights the importance of patient-physician relationships and comprehensive patient care.

Patient Perspectives on the Effect of the SARS-CoV-2 Pandemic on Patients With Systemic Sclerosis: An International Patient Survey

Background The coronavirus disease (COVID-19) pandemic and its subsequent effects on health care systems have significantly impacted the management of chronic rheumatic diseases, including systemic sclerosis (SSc). Methods In this context, a 25-item anonymized e-survey was posted on the Twitter and Facebook e-groups and pages of various scleroderma organizations and patient communities to assess the problems faced by patients with SSc during the pandemic, with a focus on effects on the disease, drug procurance, continuity of medical care, and prevalent fears among patients. Results Of the 291 participants (median age of 55 [43.5–63] years, 93.8% females), limited systemic sclerosis was the most common diagnosis (42.3%). Many patients experienced problems attributable to the COVID-19 pandemic (119, 40.9%), of which 46 (38.7%) required an increase in medicines, and 12 (10.1%) of these needed hospitalizations for disease-related complications. More than one-third (36.4%) were on glucocorticoids or had underlying cardiovascular risks (39%) that would predispose them to severe COVID-19. A significant proportion (38.1%) faced hurdles in procuring medicines or experienced disruption in physiotherapy sessions (24.7%). One-quarter (24.1%) felt it was difficult to contact their specialist, whereas another 7.2% were unable to do so. Contracting COVID-19 was the most prevalent fear (71.5%), followed by infection in the family (61.9%), and a flare of the disease (45.4%). Most respondents preferred teleconsultations (55.7%) over hospital visits in the pandemic period. Conclusion The results of the patient survey suggest that the COVID-19 pandemic has affected many patients with SSc and may translate to poorer outcomes in this population in the postpandemic period.

Structural Retinal Assessment Using Optical Coherence Tomography and Fundus Fluorescein Angiography in Systemic Lupus Erythematosus Patients

Background Ocular manifestations in systemic lupus erythematosus (SLE) can be the presenting symptom of the disease or a sight-threatening complication. Objectives To detect different structural retinal changes in patients with SLE who had no ophthalmological symptoms and investigate the relationship between different retinal changes and the disease activity assessed by the Systemic Lupus Erythromatosus Disease Activity Index score. Study Design A descriptive pilot study from January 2016 to January 2017. Methods Fifty-two eyes of 26 patients diagnosed to have SLE were examined using visual acuity assessment, fundus examination, optical coherence tomography (OCT), and fundus fluorescein angiography (FFA). Results Fundus fluorescein angiography showed different changes in the form of venular occlusion and optic nerve leakage. There were also degenerative changes in the form of alternating hyperfluorescent and hypofluorescent areas outside the arcades as well as peripapillary areas and capillary dropout. Optical coherence tomography detected signs of degenerative thinning, incomplete posterior vitreous detachment, and epiretinal membrane. A significant correlation was found between SLE activity and the changes detected by FFA (p = 0.017). However, there was no significant correlation between disease activity and changes detected by OCT. Optical coherence tomography changes were significantly correlated with the duration of hydroxychloroquine use of more than 5 years (p = 0.032). There was no correlation between FFA or OCT changes and proteinuria or antiphospholipid antibodies. Conclusions Fundus fluorescein angiography is more sensitive in detecting early subclinical retinal changes in patients with SLE, which correlates with disease activity, whereas OCT is more sensitive in detecting changes resulting from hydroxychloroquine use.

Helicobacter pylori and Upper Endoscopy in Systemic Sclerosis: A Cross-sectional Study in the Real World
Background/Aims A role for Helicobacter pylori in triggering systemic sclerosis (SSc) has been proposed, but data are conflicting. In previous studies, infection has been generally searched for by using serology. We designed this study to assess H. pylori prevalence in SSc patients with histology of gastric mucosa, considered the criterion standard for infection diagnosis. Methods This cross-sectional study enrolled 30 SSc patients who complained of upper gastrointestinal symptoms. All underwent upper endoscopy with gastric biopsies. Endoscopic alterations were recorded, and gastric mucosa biopsies were used for both histological examination and searching for H. pylori. The role for proton-pump inhibitor (PPI) therapy was considered. Fisher exact test was used for statistical analysis. Results Data of 28 SSc patients were available, 14 with ongoing PPI therapy. Helicobacter pylori infection at histology was detected in 14.3% patients, and it equally occurred in patients with or without PPI therapy. Erosive esophagitis/Barrett esophagus was detected in 26.6% of cases. Among patients with PPI therapy, 30% received half dose only. The prevalence of intestinal metaplasia was low (14.3%). Endoscopic esophageal alterations were significantly more frequent in those patients showing anti-Scl70 antibody positivity. Conclusions This study showed that prevalence of H. pylori is very low in SSc patients, so that it seems not having a role in triggering SSc. Management of gastroesophageal diseases in SSc patients needs to be improved, and looking to the autoimmune profile may be of help. Thus, collaboration between rheumatologist and gastroenterologist is highly recommended.

Xray Findings