Colchicine-resistant sacroiliitis in a Japanese patient with familial Mediterranean fever.

The articular involvement in patients with familial Mediterranean fever (FMF) represents a clinical characteristic of acute monoarthritis with pain and hydrarthrosis, which always resolves spontaneously. Colchicine prevents painful arthritis attacks in most FMF cases. Spondyloarthritis is rarely associated with Japanese patients with FMF. Here, we report a Japanese male patient with FMF-related axial joint involvement. A 43-year-old male Japanese patient who presented with recurrent febrile episodes with hip joint and back pain was referred to our hospital. He carried heterozygous variants in exon 2 (L110P/E148Q) of the MEFV gene. FMF was suspected, and oral administration of colchicine (1 mg/day) was initiated. Colchicine treatment improved his febrile attack with hip joint pain. He was diagnosed as having FMF based on the Tel-Hashomer diagnostic criteria for FMF since he fulfilled one major criterion (repeated febrile attack accompanied by hip joint pain) and one minor criterion (improvement with colchicine treatment). Although the human leucocyte antigen-B27 allele was not detected, sacroiliitis-related symptoms progressed despite the ongoing colchicine treatment. Salazosulphapyridine and methotrexate were administered in addition to colchicine; however, these treatments were not effective. Canakinumab treatment successfully resolved this unique aspect of sacroiliitis, and the patient was finally diagnosed with FMF-associated axial joint involvement.

Spondyloarthritis and nonbacterial thrombotic endocarditis as paraneoplastic manifestations in treatment-naive Burkitt lymphoma.

Non-radiographic axial spondyloarthropathy (nr-axSpA) is a clinical diagnosis of symptoms matching inflammatory back pain criteria without radiological lesions at the sacroiliac joint. The frequency of an early nr-axSpA-like presentation in lymphoma patients has not been clarified. Here we report a woman in her 20s with a fever and musculoskeletal discomfort. Detailed investigations revealed that she was suffering from Burkitt lymphoma in which nr-axSpA-like symptoms were a musculoskeletal manifestation of the disease, irrelevant to the anti-neoplastic treatment.

Seronegative spondyloarthropathy-associated inflammatory bowel disease.

Seronegative spondyloarthropathy (SpA) usually starts in the third decade of life with negative rheumatoid factor, human leukocyte antigen-B27 genetic marker and clinical features of spinal and peripheral arthritis, dactylitis, enthesitis and extra-articular manifestations (EAMs). Cases can be classified as ankylosing spondylitis, psoriatic arthritis, reactive arthritis, enteropathic arthritis, or juvenile-onset spondyloarthritis. Joint and gut inflammation is intricately linked in SpA and inflammatory bowel disease (IBD), with shared genetic and immunopathogenic mechanisms. IBD is a common EAM in SpA patients, while extraintestinal manifestations in IBD patients mostly affect the joints. Although individual protocols are available for the management of each disease, the standard therapeutic guidelines of SpA-associated IBD patients remain to be established. Nonsteroidal anti-inflammatory drugs are recommended as initial therapy of peripheral and axial SpA, whereas their use is controversial in IBD due to associated disease flares. Conventional disease-modifying anti-rheumatic drugs are beneficial for peripheral arthritis but ineffective for axial SpA or IBD therapy. Anti-tumor necrosis factor monoclonal antibodies are effective medications with indicated use in SpA and IBD, and a drug of choice for treating SpA-associated IBD. Janus kinase inhibitors, approved for treating SpA and ulcerative colitis, are promising therapeutics in SpA coexistent with ulcerative colitis. A tight collaboration between gastroenterologists and rheumatologists with mutual referral from early accurate diagnosis to appropriately prompt therapy is required in this complex clinical scenario.

Cardiovascular Morbidity in Ankylosing Spondylitis: A Focus on Inflammatory Cardiac Disease.

Ankylosing spondylitis (AS) is associated with an increase in cardiovascular (CV) morbidity when compared to the general population. The increased risk of CV involvement in AS is likely multifactorial including inflammation accelerating atherosclerosis and the cardiac inflammation itself in the form of aortitis and conduction anomalies. Establishing indisputable evidence linking AS and CV disease is challenging due to AS being relatively rare and it affects 1:1,000 and all studies analyzing the association between AS and CV disease involve a small sample size making long-term outcome measurements limited. The article reviews the literature studying the association between AS and CV disease as well as the impact of therapies for AS on the CV system (CVS).

Addition of CT to Improve the Diagnostic Confidence for the Detection of Sacroiliac Joint Erosions in Patients with Equivocal MRI Findings.

PURPOSE: To determine if CT can improve the diagnostic confidence for the detection of sacroiliac joint (SIJ) erosions in patients with equivocal MRI findings. METHODS: A retrospective analysis of adult patients who had an SIJ MRI and a subsequent SIJ CT within 12 months was conducted. Using a 5-point Likert scale, two reviewers evaluated the de-identified MRI and CT images in randomized order and in separate sessions to answer the question: "Does the patient have SIJ erosions?". A Fisher's exact test was used to analyze the difference in diagnostic confidence, and intraclass correlation coefficient (ICC) was used to determine interrater reliability. RESULTS: 54 patients were included in the analysis (average age, 43.9 years). The average time interval between initial SIJ MRI and subsequent CT was 14.4 weeks (range, 5.6-50.3 weeks). CT resulted in significantly more cases with definitive diagnostic confidence than cases with probable or equivocal confidence compared to MRI (P < .001). Amongst cases with equivocal findings on MRI, 73.2% of cases had definitive diagnoses on CT. There was moderate interrater agreement for MRI, with an ICC of .490 [95% CI, .258-.669], and excellent agreement for CT, with an ICC of .832 [95% CI, .728-.899]. CONCLUSION: Overall, CT led to significantly increased diagnostic confidence and higher interrater reliability for the detection of SIJ erosions compared to MRI. Judicious use of CT may be useful in detecting SIJ erosions in patients with equivocal MRI findings.

A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.

PURPOSE OF REVIEW: Ochronosis and alkaptonuria are manifestations of the same condition-a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA). In ochronosis, HGA undergoes autoxidation as well as enzymatic oxidation to form an ochronotic pigment that accumulates in cartilage and connective tissues. In the beginning, there is homogentisic aciduria and pigmentation of cartilages and other connective tissues. In later years, generalized osteoarthritis of the spine and large joints, termed ochronotic arthropathy, develops. RECENT FINDINGS: The diagnosis is confirmed by quantitative measurement of HGA in urine and mutation analysis of the HGD gene. One of the differential diagnoses for the skin findings is exogenous ochronosis, a limited hyperpigmentation of skin caused by some chemicals. As for the lumbar spine findings, there can be radiographic similarities with ankylosing spondylitis (AS) including reduced intervertebral disc spaces and loss of lumbar lordosis; however, ochronosis will spare the sacroiliac joint, and the lumbar spine will show dense, wafer-like disk calcification with a vacuum disc phenomenon and broad syndesmophytes. Here, we present a case of a patient with probable ochronosis that was treated many years as ankylosing spondylitis without response, and we provide a review of the current literature on ochronosis pathogenesis, diagnosis, and treatment.

Native Valve Aspergillus Endocarditis in a Non-Neutropenic Immunocompromised Patient on Anti-TNF α Blockers Therapy.

Invasive aspergillosis is a rare opportunistic infection mainly occurring in patients with a well-established risk such as neutropenia or conditions that lead to chronically impaired cellular immune responses. Systemic corticosteroids are a well-known risk factor for fungal infections. Recently, reports of invasive aspergillosis in patients treated with monoclonal biologic agents, such as tumor necrosis factor-alpha inhibitors, have been increasing. We present the case of a 47-year-old female patient with seronegative spondyloarthropathy treated with infliximab and corticosteroids. The patient presented classical symptoms of an acute lower respiratory infection, and she was treated with a ß-lactam antibiotic. Infliximab administration was deferred until nine days after clinical recovery. Fourteen days after drug administration, she was admitted with a symptomatic subcortical hematoma in the left parietal region. There was a rapid neurological recovery, and there were no risk factors for haemorrhagic stroke detected. The chest X-ray revealed an oval mass with an air crescent sign, and the CT scan was suggestive of aspergilloma. Bronchoalveolar lavage cytology identified Aspergillus spp. Voriconazole was initiated and, after one month of treatment, the patient was readmitted with a left facial palsy associated with hemiparesis and dysarthria. Laboratory evaluation showed leukocytosis and elevated C-reactive protein. A severe right middle cerebral artery stroke was present on the brain CT scan. Transesophageal echocardiogram revealed large mitral valve vegetation, and the diagnosis of Aspergillus endocarditis with cerebral embolization was made. Fungal infections are challenging due to the diagnosis infrequency and paucisymptomatic natural history. Despite being crucial in the treatment of autoimmune diseases, immunosuppressive drugs increase the risk of fungal infection. It is extremely important to consider Aspergillus infection in immunosuppressed patients, and the need for prophylaxis in non-neutropenic patients with risk factors should be clarified.

The Seronegative Spondyloarthropathies.

The seronegative spondyloarthropathies are a group of five diseases characterized by inflammatory oligoarticular arthritis, enthesitis, and axial involvement. They have an increased incidence of the HLA-B27 gene. They are commonly associated with extra-articular features including involvement of the skin, eyes, and gastrointestinal tract. Early recognition and referral are key to limit disability, and comanagement with primary care and rheumatology offers the best outcomes.

Evaluation of the internal oblique, external oblique, and transversus abdominalis muscles in patients with ankylosing spondylitis: an ultrasonographic study.

The objectives of the study are to compare abdominal muscle thickness in ankylosing spondylitis (AS) patients with healthy subjects and determine the factors affecting these muscle thickness. Thirty-five male patients with a previous diagnosis of AS according to the Modified New York criteria and a control group consisting of 35 healthy male individuals were included in this cross-sectional and case-control study. Thicknesses of the internal oblique (IO), external oblique (EO), and transversus abdominalis (TrA) muscles were measured with ultrasound (US). AS patients were classified according to the International Physical Activity Questionnaire (IPAQ). There were 35 AS patients with a mean age of 35.17 ± 8.05 years and 35 healthy subjects with a mean age 32.57 ± 7.05 years. No significant difference was observed between the groups in terms of abdominal muscle thicknesses (p > 0.005). When the AS patients were classified according to the IPAQ scores, thicknesses of the IO and TrA muscles were significantly lower in patients who had the low level of IPAQ scores (p < 0.05). In the light of our first and preliminary results, muscle thickness of the IO, EO, and TrA muscles were similar in AS patients to healthy subjects. However, AS patients who had lower level of physical activity have also reduced thickness of IO and TrA muscles.

Survival benefit of statin use in ankylosing spondylitis: a general population-based cohort study.

OBJECTIVES: Recent studies have shown an increase in both cardiovascular and all-cause mortality in ankylosing spondylitis (AS). We examined the potential survival benefit of statin use in AS within a general population context. METHODS: We performed an incident user cohort study with time-stratified propensity score matching using a UK general population database between 1 January 2000 and 31 December 2014. To account for potential confounders, we compared propensity score-matched cohorts of statin initiators and non-initiators using 1-year cohort accrual blocks. The variables used to create the propensity score model included disease duration, body mass index, lifestyle factors, comorbidities and medication use. RESULTS: Using unmatched AS cohorts, statin initiators (n=1430) showed a 43% higher risk of mortality than non-initiators (n=1430) (HR=1.43; 95% CI 1.12 to 1.84). After propensity score matching, patients with AS who initiated statins (n=1108) had 96 deaths, and matched non-initiators (n=1108) had 134 deaths over a mean follow-up of 5.3 and 5.1 years, respectively. This corresponded to mortality rates of 16.5 and 23.8 per 1000 person-years (PY), respectively, resulting in an HR of 0.63 (95% CI 0.46 to 0.85) and an absolute mortality rate difference of 7.3 deaths per 1000 PY (95% CI 2.1 to 12.5). CONCLUSION: This general population-based cohort study suggests that statin initiation is associated with a substantially lower risk of mortality among patients with AS. The magnitude of the inverse association appears to be larger than that observed in randomised trials of the general population and in population-based cohort studies of patients with rheumatoid arthritis.

Classification Terminology and Definitions in Reporting of MRI in Axial Spondyloarthritis.

Spondyloarthritis (SpA) is a group of chronic inflammatory conditions which severely impact quality of life. Several criteria have been developed in the past to aid the diagnosis of SpA based on symptoms and radiographic changes during the course of the disease. However, it takes several years before structural changes manifest on conventional radiographs, leading to a diagnostic delay of 6 to 10 years. The use of MRI and its incorporation into the Assessment of Spondyloarthritis (ASAS) criteria, has radically changed the diagnosis of SpA in the last decade by allowing visualisation of both active and chronic inflammatory changes and enabling clinicians to recognise SpA during it's early stage and initiate treatment. An understanding of the various terminology used in the divisions of disease presentations and their relevant imaging findings are key, along with the use of clear definitions of structural and inflammatory changes on MRI, in ensuring accurate diagnosis and classification of SpA.

Seronegative Spondyloarthropathies

The seronegative spondyloarthropathies are a heterogenous groups of inflammatory diseases which may present with sacroilitis, inflammatory arthritis, spondylitis and enthesitis, as well as extra-articular manifestations of inflammation most commonly involving the eye, skin and gastrointestinal tract. There is a familial preponderance to these conditions, and an association with the HLA-B27 gene. The new ASAS classification system for these conditions aims to classify patients into 2 broad categories based on the predominant site of their symptoms. The diagnosis of early spondyloarthropathy relies on a detailed history and physical examination as radiographic changes occur late, and blood work-up may be normal. Management of these chronic diseases requires a holistic multidisciplinary approach with both pharmacological and non-pharmacological interventions in recent years, many newer therapies, especially biologic agents have become available for treatment of these conditions.

Tuberculosis tenosynovitis with multiple rice bodies of the flexor tendons in the wrist: A case report.

INTRODUCTION: One of the infectious causes of wrist tenosynovitis is Mycobacterium tuberculosis. Tendon sheath involvement is rare. Herein, we report the diagnosis and treatment of a patient with neglected wrist flexor tendon sheath tuberculosis. PRESENTATION OF CASE: We report the diagnosis and treatment of a man aged 50 years with neglected wrist flexor tendon sheath tuberculosis. DISCUSSION: In patients with tendon sheath involvement, symptoms are generally non-specific such as pain and swelling; therefore, it can be diagnosed late due to the lack of systemic symptoms. Wrist X-ray imaging in tenosynovitis may show soft tissue swelling and osteoporotic changes around the wrist joint. T2-weighted sequences in magnetic resonance imaging are more successful in supporting the diagnosis. CONCLUSION: M. tuberculosis should be kept in mind as an infectious agent, especially in developing countries. In order to prevent any delay in diagnostic evaluation, all steps should be taken carefully.

Double trouble: a patient with both HLA-B27 anterior uveitis and HLA-A29 birdshot chorioretinitis.

BACKGROUND: Birdshot chorioretinitis (BSCR) is a rare ocular inflammatory disorder associated with HLA-A29 and characterized by bilateral choroidal lesions, vitritis, macular edema, and retinal vasculitis. Ocular inflammation associated with HLA-B27 is typically a recurrent, unilateral, acute anterior uveitis (AAU) that is frequently associated with ankylosing spondylitis (AS). To date, there are no reports of patients with both HLA-A29-positive BSCR and HLA-B27 AAU/AS in the English literature. FINDINGS: A 50-year-old man with a history of bilateral anterior uveitis, vitritis, retinal vasculitis, and cream-colored depigmented oval choroidal lesions was found to be HLA-A29 and HLA-B27 positive. His lumbar spine and sacroiliac joint films revealed fusion of the spine, known as 'bamboo spine' compatible with the diagnosis of ankylosing spondyloarthropathy. He had chronic ocular inflammation that was difficult to control with systemic steroids and immunomodulatory agents. CONCLUSIONS: This is the only report of a patient with both HLA-A29-positive BSCR and HLA-B27-positive AS and associated anterior uveitis. The severity of his disease suggests that patients who test positive for both HLA-A29 and HLA-B27 carry a poor visual prognosis. Prompt diagnosis and treatment with local or systemic corticosteroids or steroid-sparing agents may control the disease.

Role of diagnostic ultrasound in the assessment of musculoskeletal diseases.

The wide availability and recent improvement in technology coupled with portability, low cost and safety makes ultrasound the first choice imaging investigation for the evaluation of musculoskeletal diseases. Diagnostic use of ultrasound findings is greatly enhanced by knowledge of the clinical presentation. Conversely, ultrasound skills with its prerequisite anatomical knowledge make the clinical diagnosis more precise and reduce uncertainty in the choice of therapy. Therefore, it is essential for rheumatologists to acquire ultrasonography skills in order to improve patient care. Ultrasound examination provides an excellent opportunity for patient education and to explain the rationale for therapy. This review summarizes the indications for musculoskeletal ultrasound and describes its role in diagnosis, monitoring and prognosis.

Heel pain due to psoriatic arthritis in a 50 year old recreational male athlete: case report.

Heel pain is a common presentation in a sports injury practice, with a list of common differentials including achilles tendinopathy and retrocalcaneal bursitis. However, seronegative arthritis can also cause enthesopathies that produce heel pain and should be considered in a differential diagnosis list. In this case, a 50 year old recreationally active male presented with non-traumatic insidious heel pain and without history of any skin conditions or any other symptoms of seronegative spondyloarthritis. Clinical suspicion led to laboratory testing and radiographs/bone scan which yielded the diagnosis of psoriatic arthritis.

Atlantoaxial Subluxation in Undifferentiated Spondyloarthropathy: A case report

Atlantoaxial subluxation in undifferentiated spondyloarthropathy is extremely rare and has not been reported. We describe a case of 27-year-old man who was diagnosed as undifferentiated spondyloarthropathy with atlantoaxial subluxation with an initial complaint of painful swelling of right 1st metatarsophalangeal joint and posterior neck pain. Roentgenograms showed sclerotic change and increased hazziness in right 1st metatarsophalangeal joint. Magnetic resonance images and roentgenograms of the cervical spine showed inflammation of odontoid process and atlantoaxial subluxation. Bone scan showed hot uptakes in left sacroiliac joint, right 1st & 4th metacarpophalangeal joints and 1st metatarsophalangeal joint. HLA-B27 gene was positive. Spontaneous atlantoaxial subluxation and undifferentiated spondyloarthropathy was diagnosed and conservatively treated with oral medication. Currently, there is no definite neurological sign. Early recognition and awareness of potential clinical complications is important in preventing compressive damage on central nervous system.