Family History Of Rheumatic Disease Research Articles

Evaluation of general public awareness, knowledge and attitude about common rheumatic diseases in Egypt: a multicenter study

BackgroundRheumatic diseases are the diseases of the connective tissue and medical disorders of the musculoskeletal system, with pain and/or stiffness as main manifestations, and which may or may not be accompanied by other organ system involvement. Public and patient’s awareness is needed as the number of patients of various forms of arthritis and other musculoskeletal diseases is constantly on rise.ObjectiveThe aim of our multicenter study is to evaluate awareness, knowledge, and attitude of general populations regarding common rheumatic diseases in Egypt.Subjects and methodsThis was a multicenter study included 3000 subjects from 4 Egyptian governorates (750 subjects from each): Lower Egypt: Dakahlia and Damietta and Upper Egypt: Sohag and Qena. Entire cases completed the Awareness, Knowledge, and Attitude of Egyptian people towards four of the common rheumatic diseases (Rheumatoid arthritis, Systemic lupus erythematosus, Crystal-induced arthritis, and Osteoarthritis): AKARSCO questionnaire that included basic information, general knowledge, and attitude about rheumatic diseases.ResultsThe knowledge and awareness of rheumatic diseases are significantly higher among females. Regarding education level, there is a steady increase in the awareness with the rise of education level, with a highly significant correlation. Non-working and married participants had significantly higher knowledge compared to working and non-married ones. The attitude towards rheumatic diseases is significantly satisfactory among females. Regarding education level, there is a steady increase in the attitude with the rise of education level, with a highly significant correlation. Non-working and married participants had significant satisfactory attitude compared to working and non-married ones. The main sources of information about rheumatic diseases are media and Internet.ConclusionThe overall awareness, knowledge, and attitude of population towards rheumatic diseases are limited in Egypt. The participants’ total score regarding the general knowledge level of rheumatic diseases, rheumatoid arthritis, SLE, gout, and osteoarthritis is bad. The participants’ overall level regarding the attitude towards rheumatic diseases is unsatisfactory. The level of knowledge and attitude is affected by many factors like sex, work, education, residence, marital status, and family history of rheumatic diseases. The main sources of information about rheumatic diseases are media and Internet.

Identification of potential susceptibility genes in patients with primary Sjögren’s syndrome-associated pulmonary arterial hypertension through whole exome sequencing

BackgroundPulmonary arterial hypertension (PAH) is a rare complication of primary Sjögren’s syndrome (pSS). Several genes have proven to be associated with pSS and PAH. However, there is no study specifically addressing the genetic susceptibility in pSS combined with PAH.MethodsThirty-four unrelated patients with pSS-PAH were recruited from April 2019 to July 2021 at Peking Union Medical College Hospital. Demographic and clinical data were recorded in detail, and peripheral blood samples were collected for whole-exome sequencing (WES). Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed to predict the functional effect of mutant genes. Genetic variants identified by WES were confirmed by polymerase chain reaction (PCR)-Sanger sequencing.ResultsWe totally identified 141 pathogenic variant loci of 129 genes in these 34 pSS-PAH patients, using WES analysis. Patients with a family history of rheumatic diseases are more likely to carry FLG mutations or carry gene variations related to the biosynthesis of the amino acids pathway (p < 0.05). According to Sanger sequencing confirmation and pathogenicity validation, we totally identified five candidate pathogenic variants including FLG c.12064A > T, BCR c.3275_3278dupCCGG, GIGYF2 c.3463C > A, ITK c.1741C > T, and SLC26A4 c.919-2A > G.ConclusionOur findings provide preliminary data of exome sequencing to identify susceptibility loci for pSS-PAH and enriched our understanding of the genetic etiology for pSS-PAH. The candidate pathogenic genes may be the potential genetic markers for early warning of this disease.

E029 Erdheim-Chester disease: a rare multisystem disorder

Abstract Background/Aims Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multiorgan involvement. Otherwise known as polyostotic sclerosing histiocytosis it is characterised by proliferation and infiltration of lipid laden macrophages into bone marrow. Extraskeletal involvement is commonly seen involving heart, CNS, skin, lung, kidney, and retroperitoneum resulting in a variety of presenting features. Methods Case: 75-year-old male referred to rheumatology connective tissue disease clinic by respiratory team with dyspnoea and unintentional weight loss of 20kg in one year. CT had shown pleural effusions and interstitial markings in mid zones felt to be due to cardiac failure. PMH - IHD, CABG. Mildly elevated dsDNA of 10. He denied cough, sputum or haemoptysis. No mouth ulceration, alopecia, sicca symptoms, Raynaud's, rashes, fevers, myalgia, or joint swelling. No family history of rheumatic disease. On examination reduced air entry to lung bases, no synovitis, no nail bed changes, no lymphadenopathy. Results Further investigations showed persistent mildly elevated dsDNA, crithidia negative, negative ANA on HEp2, Hb 136, WCC 13.8, PLT 329, complement levels normal, Igs normal, IgG4 normal, NTproBNP raised 3196, ESR 27, CRP 28. Further CT CAP - bilateral pleural effusions, thickened enhancement of pleura bilaterally without focal mass, increased interstitial markings lung mid zones, significant thick pericardial enhancement and pericardial effusion, thickening around distal oesophagus and a rind of inflammatory thickening around distal thoracic aorta. Transthoracic echocardiogram - small pericardial effusion without haemodynamic compromise, normal left and right ventricular function. NM whole body - marked increased uptake in diametaphyseal regions of tibial bones and distal aspect of femora. MRI femurs - significant symmetrical abnormality in distal femoral shaft and metaphyseal region of both femora, endosteitis with extensive linear and patchy reduction T1 signal intensity and increase in STIR intensity within medullary cavity of distal femur. CT guided biopsy of distal femur identified foamy histiocytic infiltration with fibrosis. BRAF mutation testing of plasma showed strong positive result confirming molecular diagnosis of Erdheim-Chester disease. Cardiac MRI had been requested and MRI of brain was normal. He was treated initially with 40mg prednisolone, weaned to 15mg, and weekly PEG interferon with improvement in dyspnoea and weight loss. However, he deteriorated slowly over the next year and died of cardiac failure. Conclusion Histiocytic disorders such as Erdheim-Chester disease do rarely present to rheumatology given multisystem involvement and diagnostic uncertainty. This patient had skeletal, cardiac, lung, and gastrointestinal involvement resulting in his dyspnoea and weight loss. Initial treatment involves corticosteroid and interferon. Approximately 50% of patients have BRAF mutation and may respond to vemurafenib therapy. Our patient unfortunately deteriorated prior to being considered for this treatment. Prognosis is poor with a 3-year survival of 50%. Disclosure G. Starritt: None. D. McCormick: None.

Prevalence of fatigue functional and social impairment among patients with rheumatic diseases compared to patients without: A cross-sectional comparison.

Rheumatic diseases (RD) are chronic diseases that significantly affect the lives of patients. Assessing health outcomes through a patient-reported outcome measurement information system (PROMIS) is essential for RD management. Moreover, these tend to be less favorable among individuals than among the rest of the population. This study aimed to compare PROMIS between RD patients and other patients. This cross sectional study was conducted in the year 2021. Information about patients with RD was obtained from the RD registry at King Saud University Medical City. Patients without RD were recruited from family medicine clinics. Patients were contacted electronically through WhatsApp© to complete the PROMIS surveys. We compared the individual PROMIS scores between the 2 groups using linear regression, adjusting for sex, nationality, marital status, education level, employment, family history of RD, income, and chronic comorbidities. There were 1024 individuals (512 with RD and 512 without RD). The most common RD was systemic lupus erythematosus (51.6%), followed by rheumatoid arthritis (44.3%). Individuals with RD reported significantly higher PROMIS T-scores for pain [β = 6.2; 95% confidence interval (CI) = 4.76, 7.71] and fatigue (β = 2.9; 95% CI = 1.37, 4.38) compared to those without RD. Moreover, RD individuals reported lower physical functioning (β = -5.4; 95% CI = -6.50, -4.24) and social interaction (β = -4.5; 95% CI = -5.73, -3.20). Patients with RD in Saudi Arabia, particularly those with systemic lupus erythematosus and rheumatoid arthritis, have significantly greater impairment in physical functioning and social interaction and report higher levels of fatigue and pain. Addressing and ameliorating these negative outcomes is necessary to improve quality of life.

Interruptions of biological and targeted synthetic disease-modifying antirheumatic drugs in rheumatoid arthritis: a descriptive cohort study assessing trends in patient characteristics in Switzerland

ObjectivesTo identify differing patient characteristics at the time of stop and restart of biological or targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs) in rheumatoid arthritis (RA), stratified by stop reason.DesignExplorative descriptive...

Clinical Features and Prevalence of Spondyloarthritis in a Cohort of Italian Patients Presenting with Acute Nongranulomatous Anterior Uveitis.

Purpose To describe the clinical features of acute nongranulomatous anterior uveitis (NGAU) patients and to estimate the prevalence of concomitant spondyloarthritis (SpA). Methods Retrospective study of consecutive patients affected by NGAU referred to the Ocular Immunology Unit of the AUSL-IRCCS di Reggio Emilia, Italy, between January 2016 and January 2019. All patients underwent ophthalmic evaluation and blood test with HLA-B27 typing and were referred to a rheumatologist to identify any undiagnosed SpA. SpA was classified according to the Assessment of SpondyloArthritis international Society (ASAS) criteria in axial or peripheral SpA. Patients were divided into two groups: NGAU with associated SpA (SpA+) and NGAU without SpA (SpA-). Clinical and demographic features of the two groups, including sex, HLA-B27, family history of rheumatic disease, uveitis laterality, course, and severity of ocular inflammation, complications, and treatment, were compared. Results Ninety-nine patients with NGAU were enrolled, of whom 36 (36%) with a diagnosis of SpA: 14 with peripheral SpA and 22 with axial SpA. The prevalence of SpA was higher in HLA-B27-positive patients than in HLA-B27-negative patients (50% vs. 15%, p < 0.0001). The multivariate logistic regression (R2 = 0.28) for SpA diagnosis identified as significant predictive factors: age at diagnosis (odds ratio [OR] = 0.95, 95% confidence interval [CI]: 0.91-0.99) and HLA-B27+ (OR = 5.32, 95% CI: 1.80-15.70). Conclusions Our results confirmed the high prevalence of undiagnosed SpA in patients with NGAU, suggesting that, regardless of HLA-B27 status, in the presence of IBP and/or peripheral arthritis, patients with NGAU must be referred to the rheumatologist to allow earlier diagnosis.

Prevalence of complementary and alternative medicine despite limited perceived efficacy in patients with rheumatic diseases in Mexico: Cross-sectional study.

Complementary and alternative medicine (CAM) is frequently used by patients with rheumatic diseases (RD) to improve their symptoms; however, its diversity and availability have increased notably while scientific support for its effectiveness and adverse effects is still scarce. To describe the prevalence and diversity of CAM in patients with RD in Chihuahua, Mexico. A cross-sectional study was conducted in 500 patients with RD who were interviewed about the use of CAM to treat their disease. The interview included sociodemographic aspects, characteristics of the disease, as well as a description of CAM use, including type, frequency of use, perception of the benefit, communication with the rheumatologist, among others. The prevalence of CAM use was reported by 59.2% of patients, which informed a total of 155 different therapies. The herbal CAM group was the most used (31.4%) and included more than 50 different therapies. The use of menthol-based and arnica ointments was highly prevalent (35%). Most patients (62.3%) reported very little or no improvement in their symptoms. Only a fourth of the patients informed the rheumatologist of the use of CAM. The use of CAM was influenced by female sex, university degree, diagnosis delay, lack adherence to the rheumatologist's treatment, family history of RD, and orthopedic devices. The use of CAM in our population is highly prevalent and similar to reports in different populations suggesting a widespread use in many different societies. We found high use of herbal remedies; however, there were many different types suggesting a lack of significant effect. Patients continue using CAM despite a perception of no-effectiveness. Recurrent use of CAM is explained by factors other than its efficacy.

АНАЛИЗ АКТИВНОСТИ СИГНАЛЬНОГО ПУТИ ИНТЕРФЕРОНА-I У ДЕТЕЙ С СИСТЕМНОЙ КРАСНОЙ ВОЛЧАНКОЙ: РЕЗУЛЬТАТЫ ПИЛОТНОГО ПРОСПЕКТИВНОГО ИССЛЕДОВАНИЯ

The interferon system (IFN) is a group of signaling molecules with antiviral, antitumor and antiproliferative effects. The most studied signaling pathway is mediated by IFN type I. Mutations of IFN-I-regulated genes are involved in the pathogenesis of systemic lupus erythematosus (SLE). Interferon index (IFN-I-index) – a quantitative indicator of the level of expression of IFN-Iregulated genes – is used to assess the activity of the interferon system. Objective of the study: to assess the level of the IFN-I index in children with SLE, as well as to compare the clinical and laboratory characteristics of patients with high and normal levels of the IFN-I-index. Materials and methods of research: 40 patients (girls – 83%, boys – 17%) under 18 years of age with SLE diagnosed in accordance to the SLICC 2012 criteria were included in a multicenter prospective open uncontrolled nonrandomized continuous study. The age of the patients was 15,2 (12,5 ; 16,7) years. All of them underwent examination and treatment in the Pediatric department № 3 at the clinic of the St. Petersburg State Pediatric Medical University and in the Pediatric department of the Almazov National Medical Research Center. The IFN-I index was determined by real-time PCR with a quantitative assessment of the expression of 5 genes induced by IFN-α and β. Results: aggravated family history of rheumatic diseases was noted in 8 patients: SLE – in 3 (8%), rheumatoid arthritis – in 3 (8%), cold urticaria – in 2 (5%). The average age of onset of the disease is 12 years. The most common clinical manifestations were lesions of the skin, joints, mucous membranes, central nervous system, kidney and fever. 31 patients (78%) had an increased IFN-I index. All cases of kidney failure were observed only in patients with a high IFN index (36% vs 0%, p=0,036). Patients with increased IFN-I-index had statistically significant increased levels of antinuclear (87% vs 56%, p=0,043) and rheumatoid factors (36% vs 0%, p=0,036), higher ECLAM index values (3,0 vs 1.0, p=0,048), ferritin levels (p=0,0008) and, as a consequence, the need for more intensive immunosuppressive therapy (using rituximab and cyclophosphamide) compared with patients with normal IFN-Iindex. A positive statistically significant correlation of the IFN-I index with male sex (r=0,41, p=0,008), nephritis (r=0,35, p=0,026), livedoid rash (r=0,38, p=0,017 ), Raynaud's phenomenon (r=0,37, p=0,018), high antinuclear factor (r=0,82, p=0,001), rheumatoid factor (r=0,654, p=0,011), antibodies to Sm antigen (r=0,57, p=0,034), as well as a negative relationship with anemia (r=–0,67, p=0,009). Conclusion: IFN-I-index can be considered as a surrogate biomarker of activity and prognosis of SLE. Further research is required to validate its diagnostic role.

Hypogonadotropic Hypogonadism and Juvenile Idiopathic Arthritis in an African Boy: What is the Pathophysiological Link?

The association between hypogonadotropic hypogonadism and juvenile chronic arthritis has rarely been reported in the literature. We report an untreated case of systemic juvenile idiopathic arthritis in a young African male with co-presentation of hypogonadotropic hypogonadism. Possible pathophysiological and etiological links are discussed.A 16-year-old boy was received in our outpatient department for chronic arthritis with temporomandibular involvement and fever. There was no family history of rheumatic diseases or psoriasis. Body temperature was 39.5°C at admission. The clinical examination found synovitis of wrists and knees and inflammatory lymphadenopathy. This polyarthritis occurred in a context of hypogonadism marked by impuberism of Tanner classification stage P2G2. Laboratory tests showed biological inflammatory syndrome and hyperferritinemia with collapsed glycosylated ferritin at 11%. Hormonal testing found low blood testosterone (0.08 mg/L) and pituitary hormone levels attesting to hypogonadotropic hypogonadism. Screening for infections was negative. The immunological assessment for antinuclear antibodies, rheumatoid factor, and anti-cyclic citrullinated peptide antibodies were negative. Standard radiography showed bilateral wrist carpitis. The olfactory bulb was present and normal by cerebral magnetic resonance imaging. The diagnosis of systemic juvenile idiopathic arthritis associated with hypogonadotropic hypogonadism, probably related to delayed puberty, was retained. A therapy combining corticosteroid, methotrexate for arthritis, and hormone replacement with testosterone led to regression of arthritis, biological inflammatory syndrome, and hypogonadism.The presence of rheumatic disease in this context of hypogonadism, regardless of its cause, is mainly associated with very low testosterone levels and the presentation of arthritis in these patients tends to be more severe.

Family history of rheumatic diseases in patients with rheumatoid arthritis: a large scale cross-sectional study

To determine the associations between the family history of rheumatic diseases and clinical features in patients with rheumatoid arthritis (RA). In total, eight hundred and ninety patients with RA were enrolled. The demographic and clinical data were collected, including gender, age, height, body weight, age of disease onset, history of smoking and drinking, family history of rheumatic diseases, clinical and laboratory features, pain and global visual analogue scale (VAS), and multi-dimensional health assessment questionnaire (MDHAQ). Finally, 803 patients were completed the dataset and were included in the study. In this cohort, the male/female ratio was 1:3.5, and the age of onset was (45.09±14.50) years. A total of 123 (15.32%) patients were accompanied with family history of rheumatic diseases, including RA, spondyloarthritis, Sjögren's syndrome, systemic lupus erythematosus and systemic sclerosis. The percentages of first degree, second degree and both first and second degree relatives were 91 (73.98%), 22 (17.89%), and 10 (8.13%) respectively. The most common disease was RA (70.73%), followed by other rheumatic diseases (21.95%), and RA combined with other rheumatic diseases (7.32%). The clinical and laboratory characteristics were compared between the patients with and without family history. The onset-age of the subjects was significantly different between those with and without family history of rheumatic diseases (39.97 ±13.68 vs. 46.01±14.46; P<0.01), which meant that the onset-age in patients with family history was 6.04 years earlier than that in patients without family history. The patients with family history had higher positive rate of rheumatoid factor (RF) compared with those without family history (78.48% vs. 66.67%, P<0.05). By adjusting with gender, body mass index (BMI), smoking and alcohol drinking, anti-cyclic citrullinated peptide (CCP) antibody and RF level, the age at disease onset in the patients with family history was 4.54 years earlier than that in the patients without family history (β=-4.54; 95%CI:-8.70, -0.38; P<0.05). Further hierarchical regression analysis showed that, the age at onset of the RA patients with family history was 10.02 years earlier than that without family history among the smoking patients (β= -10.02; 95%CI:-17.60, -2.43; P=0.01), while the age at onset of the RA patients with family history was 3.27 years earlier than that without family history among the never smoking patients (β=-3.27; 95%CI:-8.37, 1.82; P=0.21). The family history of rheumatic diseases is a risk factor for early onset of RA, and may interact with smoking.

In search of a disease

A 10-year-old child presented with right eyelid swelling and a palpable orbital mass. Diagnostic evaluation with the aid of excisional biopsy revealed a pseudoencapsulated mass associated with high levels of serum perinuclear antineutrophil cytoplasmic antibodies. Family history of rheumatic diseases, response to treatment with corticosteroids and immunosuppressant drugs, and clinical and histopathologic features suggested an orbital autoimmune response in which perinuclear antineutrophil cytoplasmic antibodies were detected, and a diagnosis of probable IgG4-related disease was made.

Chinese SLE Treatment and Research group (CSTAR) registry: I. Major clinical characteristics of Chinese patients with systemic lupus erythematosus

The Chinese systemic lupus erythematosus (SLE) treatment and research group (CSTAR) provides major clinical characteristics of SLE in China and establishes a platform to provide resources for future basic and clinical studies. CSTAR originated as a multicentre, consecutive, and prospective design. The data were collected online from 104 rheumatology centers, which covered 30 provinces in China. The registered patients were required to meet four or more of the American College of Rheumatology (ACR) criteria for the classification of SLE. All CSTAR centers use the same protocol-directed methods to provide uniform evaluations, which included demographic data, clinical features, laboratory examinations, and disease activity evaluations. The patient samples, including DNA samples and sera, were also collected for further quality controls and additional studies. Preliminary analysis from 2104 baseline evaluations was available for this analysis. Of 1914 female and 190 male patients (F:M=10.1), the mean age at onset was 29.2 y with confirmed diagnosis one year later at the age of 30.3 y. Eighty four (4.2%) of 2002 patients had a family history of rheumatic diseases, including 34 (1.7%) cases with SLE. In addition, one hundred and seven (5.2%) abnormal pregnancies were recorded among 2026 experiences. The characteristics of the CSTAR cohort were compared to similarly sized cohorts from other studies. We found that 56.1% of patients presented with concurrent hematological disorders compared to only 18.2% of European patients. Moreover, 47.4% of patients presented with nephropathy compared to 27.9% of European patients. Conversely, neurological manifestations were only seen in 4.8% of Chinese SLE patients compared to 19.4% of European patients, 12.1% of U.S. patients, 22.8% of Malaysian patients and 26.4% of Latin Americans. Pulmonary arterial hypertension and interstitial lung diseases were complications identified in 3.8% and 4.2% of Chinese lupus patients, respectively. The CSTAR registry has provided epidemiological data and phenotypes of Chinese patients with SLE, and has demonstrated several differences between ethnicities. Clinical data and biologic samples would be valuable resources for future translational studies with national and international collaboration.

AB1116 Selective ig a deficiency in juvenile SLE patients

BackgroundImmunoglobulin A (IgA) is responsible for protection against infections of the respiratory and gastrointestinal tracts, and selective IgA deficiency (SIgAD) is the most common humoral immunodeficiency. It is speculated that...

The registry of the German Network for Systemic Scleroderma: frequency of disease subsets and patterns of organ involvement

Objective. Systemic sclerosis (SSc) is a rare, heterogeneous disease, which affects different organs and therefore requires interdisciplinary diagnostic and therapeutic management. To improve the detection and follow-up of patients presenting with different disease manifestations, an interdisciplinary registry was founded with contributions from different subspecialties involved in the care of patients with SSc.Methods. A questionnaire was developed to collect a core set of clinical data to determine the current disease status. Patients were grouped into five descriptive disease subsets, i.e. lcSSc, dcSSc, SSc sine scleroderma, overlap-syndrome and UCTD with scleroderma features.Results. Of the 1483 patients, 45.5% of patients had lcSSc and 32.7% dcSSc. Overlap syndrome was diagnosed in 10.9% of patients, while 8.8% had an undifferentiated form. SSc sine scleroderma was present in 1.5% of patients. Organ involvement was markedly different between subsets; pulmonary fibrosis for instance was significantly more frequent in dcSSc (56.1%) than in overlap syndrome (30.6%) or lcSSc (20.8%). Pulmonary hypertension was more common in dcSSc (18.5%) compared with lcSSc (14.9%), overlap syndrome (8.2%) and undifferentiated disease (4.1%). Musculoskeletal involvement was typical for overlap syndromes (67.6%). A family history of rheumatic disease was reported in 17.2% of patients and was associated with early disease onset (P < 0.005).Conclusion. In this nationwide register, a descriptive classification of patients with disease manifestations characteristic of SSc in five groups allows to include a broader spectrum of patients with features of SSc.

Prevalence of spondyloarthropathies in an Italian population sample: a regional community‐based study

Objective. To estimate the prevalence of spondyloarthropathies (SpA) in an adult population in Marche, a region located in central Italy.Methods. A cross‐sectional population‐based study was conducted on a target adult population of 20 882. Questionnaires were sent to a random sample of 3664 individuals aged 18 years and over, selected from the lists of 16 general practices. Trained rheumatologists carried out structured visits in which respondent subjects were asked about symptoms of back pain, peripheral arthritis, joint swelling, psoriasis, and the occurrence of diarrhoea and dysuria. A family history of rheumatic disease, psoriasis, or uveitis was assessed. Cases were further classified as ankylosing spondylitis (AS), psoriatic arthritis (PsA), reactive arthritis (ReA), inflammatory bowel disease (IBD)‐associated arthritis, and undifferentiated SpA by the European Spondyloarthropathy Study Group (ESSG) criteria.Results. A total of 2155 subjects participated to the study (response rate 58.8%). Twenty‐three cases of SpA (18 men, five women, mean age 48.3 ± 12.1 years) were confirmed, with an overall prevalence of 1.06% [95% confidence interval (CI) 0.78–1.38]. The most common SpA was PsA, with a prevalence of 0.42% (95% CI 0.31–0.61), followed by AS with 0.37% (95% CI 0.23–0.49). Two cases with undifferentiated SpA, two with ReA, and two with IBD‐associated arthritis were also observed (0.09%, 95% CI 0.04–0.16).Conclusions. This is the first population‐based study that provides an estimate of the prevalence of SpA in Italy. PsA and AS were the most common SpA subsets. Further epidemiological studies are needed to obtain reliable prevalence rates and to better understand our findings.

Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term.

To retrospectively assess, with a sufficiently long followup (mean 11.6 years; median 9 years), the long-term outcome of chronic recurrent multifocal osteitis (CRMO), a multifocal, inflammatory bone disease. Patients included were 8 children/adolescents and 7 adults with no family history of rheumatic disease who had been diagnosed as having CRMO between 1979 and 1995. Ten patients had undergone at least 1 bone biopsy of the lesions, with histologic examination and multiple cultures. In 1996, in addition to an in-depth interview, 12 patients underwent an extensive physical examination, laboratory evaluation, HLA-A, B, C, and DR typing, bone radiography and scintigraphy, and computed tomography scan of the sternoclavicular and sacroiliac joints. Remission was observed in 3 patients. The other 12 patients developed various associations of vertebral (n = 10), sacroiliac (n = 6), anterior thoracic (n = 7), peripheral articular (n = 2), enthesopathic (n = 4), or dermatologic (palmoplantar pustulosis in 3 cases and psoriasis in 2) involvements. Spine involvement was the most common and occurred the earliest (median time to appearance after the onset of osteitis 5.63 years). Clinical sacroiliitis was always unilateral. No patients carried the HLA-B27 haplotype. CRMO responded well to nonsteroidal antiinflammatory drugs. Twelve patients met the European Spondylarthropathy Study Group criteria for spondylarthopathy. After 10 years, CRMO had usually evolved to spondylarthropathy, but with certain features not usually seen in the latter: predominantly, unilateral sacroiliitis, no familial form, and no link with HLA-B27.