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Stroke and Transient Ischemic Attacks of the Brain and Eye
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
The single best test for screening patients suspected of having a systemic autoimmune vasculitis is the ANA test by indirect immunofluorescence. Its value as a screening test is its high negative predictive value of 99% for SLE and 95% for other diseases (i.e. a negative test likely rules out these diseases). However, the ANA test has a very poor predictive value because healthy people might have a positive ANA. Hence, a positive ANA test should be followed by further testing for extractable nuclear antigens (ENAs) and double-stranded (ds) DNA antibody testing for defining the ANA specificities and disease associations. ENAs include SSA, SSB, Scl-70, Cenp B, RNP, Jo-1, Ribo-P, and histones. As the antidense fine speckled (anti-DFS70) antibody is the most frequent autoantibody resulting in false-positive ANA results in healthy individuals (23–50%), the presence of anti-DFS70 antibody in the absence of ENA and dsDNA antibodies virtually excludes a diagnosis of systemic autoimmune vasculitis.
The locomotor system
Published in Peter Kopelman, Dame Jane Dacre, Handbook of Clinical Skills, 2019
Peter Kopelman, Dame Jane Dacre
Anti-nuclear antibodies These antibodies are positive in patients with connective tissue diseases. Patients with SLE may also have a high circulating level of anti-DNA or SM antibodies. Patients with other connective tissue diseases may have high levels of extractable nuclear antigens (ENA). The antibodies are helpful in predicting the pattern of involvement of the disease, and therefore the outcome.
Musculoskeletal disorders (and rheumatology)
Published in Shibley Rahman, Avinash Sharma, A Complete MRCP(UK) Parts 1 and 2 Written Examination Revision Guide, 2018
Shibley Rahman, Avinash Sharma
A search for autoantibodies to nuclear antigens (antinuclear and antiDNA antibodies) and rheumatoid factor are the usual starting points while considering referral to specialist care. Antiphospholipid antibodies (anticardiolipin antibodies and the lupus anticoagulant) should be considered in women with previous morbidity in pregnancy or thrombotic events. In secondary care, more extensive testing is usually considered, including detailed assessment of organ dysfunction and further autoantibody testing, including complement levels and antibodies to the extractable nuclear antigens (ENA), such as Ro (SS-A), La (SS-B), ribonucleoprotein (RNP) and Sm.
Pallid Disc Oedema in a Young Patient: Clinical and Diagnostic Challenge
Published in Neuro-Ophthalmology, 2022
Liana Dedina, Mark M. Hassall, Shilpanjali Jesudason, Sumu Simon
This patient with with end-stage kidney disease and past extensive immunosuppression exposure had presented with painless and rapidly progressing vision loss. He was investigated for infective, inflammatory, infiltrative and vasculitic aetiologies. Of note, an immunological work up had been performed earlier in the year for non-specific joint symptoms, and did not identify any significant abnormalities. A blood work-up showed a normocytic anaemia with a haemoglobin level of 86 g/L and a mild neutrophilia. The erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels were elevated at 72 mm/hr and 14.9 mg/L, respectively (note the caveat, ESR is less relevant in a dialysed patient with renal anaemia on erythropoietin). Anti-neuromyelitis optica antibodies were not detected. Rheumatoid factor, anti-cyclic citrullinated peptide (anti-CCP), extractable nuclear antigen (ENA) antibody test, syphilis and tuberculosis screening were negative. A lumbar puncture did not detect cryptococcus, Toxoplasma gondii, herpes simplex viruses, parechovirus, Varicella zoster, Neis-seria meningitidis or Strepto- coccus pneumoniae in the cerebrospinal fluid. A chest radiograph was unremarkable. Non-contrast magnetic resonance imaging (MRI) of the head and orbits did not show any optic nerve compression or infiltration, nor evidence of demyelination. Intravenous methylprednisolone therapy at 1 g/day was given for three days.
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome
Published in Ophthalmic Genetics, 2021
Filipa G Rodrigues, Harry Petrushkin, Andrew R Webster, Maria Bickerstaff, Elena Moraitis, Dorota Rowczenio, Juan I. Aróstegui, Mark Westcott
The proband is a Caucasian female who presented age 9 in South Africa with a left swollen ankle and knee, small joint polyarthritis, jaw pain, and fever (Figure 1). Biopsy of an ankle effusion a year later showed non-granulomatous inflammatory findings and was suggestive of juvenile rheumatoid arthritis (now termed juvenile idiopathic arthritis (JIA)). Serology showed positive antinuclear antibodies (ANA, titre 1:640) but negative rheumatoid factor, negative anti-cyclic citrullinated peptide antibody (anti-CCP), and negative anti-extractable nuclear antigen (ENA) antibodies. At age 12 she developed bilateral anterior uveitis. She was treated with a combination of corticosteroids, non-steroidal anti-inflammatory drugs (NSAIDs), methotrexate, sulphasalazine, and hydroxychloroquine. She subsequently developed abnormal liver function tests (LFT) and was started on azathioprine and intramuscular gold injections without success. She moved to the United Kingdom (UK) and, at age 27, she started etanercept (50 mg subcutaneous weekly) for oligoarticular disease (bilateral ankles and left knee and wrist).
High prevalence of autoimmune diseases in women with endometriosis: a case-control study
Published in Gynecological Endocrinology, 2020
M. G. Porpora, S. Scaramuzzino, C. Sangiuliano, I. Piacenti, V. Bonanni, M. G. Piccioni, R. Ostuni, L. Masciullo, P. L. Benedetti Panici
From January 1 2014 to December 31 2017, 148 women in reproductive age affected by endometriosis were enrolled in the study. Informed consent was obtained from all participants to the study. Inclusion criteria for the case group were a diagnosis of endometriosis confirmed by laparoscopy and histology. A control group of 150 patients with no clinical or ultrasound (US) signs of endometriosis was enrolled. Both patients in case and in control groups referred to endometriosis and chronic pelvic pain outpatient clinic of Policlinico Umberto I of Rome. All women were 18–45 years old. Considered autoimmune diseases were: SLE, CD, IBD (Crohn’s disease and ulcerative colitis), autoimmune thyroiditis. Patients with CD were previously diagnosed by endomysial IgA (EMA), tissue transglutaminase (t-TGA) antibodies measurement, and serum total IgA dosage, and in case of antibody positivity, upper digestive endoscopy with intestinal biopsy. Autoimmune thyroiditis had been diagnosed by US, thyroid peroxidase antibodies (TPOAbs), thyroglobulin antibodies (TgAbs), and TSH-Ab serum measurement. The other autoimmune diseases had been previously diagnosed on the basis of specific autoantibodies for each disease: antinuclear antibodies (ANAs), extractable nuclear antigen (ENA), anti-cardiolipin antibodies, antiphospholipid antibodies, and lupus anticoagulant (LAC) for SLE. Inflammatory bowel disease was confirmed by colonoscopy and intestinal biopsy.