Symptoms Of Connective Tissue Disease Research Articles

8705 Autoimmune Polyglandular Syndrome Type 2 Presenting As Recurrent Cardiac Tamponade

Abstract Disclosure: E.M. Niedzialkowska: None. D. Shelden: None. Introduction: Autoimmune polyglandular syndrome type 2 (APS2) is a rare endocrinopathy with co-occurrence of autoimmune adrenal insufficiency, autoimmune thyroiditis and/or type 1 diabetes. In rare cases, APS2 can predispose patients to recurrent pericardial effusion and tamponade. Case presentation: 32 y.o male with medical history of hypothyroidism on replacement therapy diagnosed 2 weeks prior to admission presented with progressive dyspnea and hypotension. The patient was found to have pericardial effusion with tamponade requiring pressor support. Initial lab tests showed TSH 148.7 uIU/ml (N 0.4-4.5), free t4 0.7 ng/dl(N 0.7-1.5 ), free t3 2 pg/ml (N 1.7-3.5), Hb a1c 4.7% (N <5.6%), thyroglobulin antibody 851 IU/ml (N <20), TPO antibody >1 000 IU/ml (N<=35), TSI 0.1 IU/l (<0.1), sodium 127 mmol/l (N 135-145), and a negative adrenal antibody panel. The patient was started on IV levothyroxine (400 mcg daily) and stress dose steroids in the setting of shock requiring 4 pressors. Shock resolved after pericardiocentesis and the patient was weaned off pressor support. Pericardial fluid showed neutrophil predominance and was negative for an infectious process, lab tests showed negative ANA, ANCA and GBM. The day following admission lab tests showed TSH of 23.86 uIU/ml, ft4 1.3 ng/dl, the patient was transitioned to oral levothyroxine 125 mcg and the steroid regimen was tapered and discontinued. Follow up tests showed normal TSH and resolution of pericardial effusion. Four weeks after initial admission the patient was readmitted due to hypotension. Laboratory tests showed random cortisol <1.0 ug/dl (N 2.9-19.4), ACTH 17 pg/ml (N 6-48), adrenal antibody titers 1:20 (N < 1:10), cosyntropin stimulation test was positive for adrenal insufficiency and the patient was started on steroid regimen with symptomatic improvement. He was diagnosed with APS type 2 based on his constellation of endocrinopathies. Repeat echocardiogram was negative for pericardial effusion. Two months later, the patient presented with chest pain. Imaging was positive for recurrent pericardial effusion requiring pressor support and pericardiocentesis. The patient was subsequently started on colchicine. Infectious and rheumatologic workup continued to be negative. The patient did not exhibit symptoms of connective tissue disease. Seven months after the initial presentation the patient was readmitted with COVID-19 infection complicated by hypotension and a small pericardial effusion. Symptoms improved after initiation of stress dose steroids. Conclusion: Cardiac tamponade is a rare presentation of APS2 with 9 cases reported in the literature up to date. Increased incidence of pericardial effusion is presumed to be a result of autoimmune inflammation leading to fluid accumulation. The patients are prone to tamponade due to intravascular volume depletion, decreased vascular tone and impaired stress response. Presentation: 6/3/2024

Earlier vs. later time period of COVID-19 infection and emergent autoimmune signs, symptoms, and serologies

ObjectiveAutoantibodies and autoimmune diseases after SARS-CoV-2 infection are widely reported. Given evolving variants, milder infections, and increasing population vaccination, we hypothesized that SARS-CoV-2 infection earlier in the pandemic would be associated with more autoimmune connective tissue disease (CTD) symptoms and immunologic abnormalities. MethodsPatients ≥18 years old with COVID-19 3/1/2020-8/15/2022 completed the CTD Screening Questionnaire and were tested for 27 autoimmune serologies, SARS-CoV-2 serologies, cell-bound complement activation products (CB-CAPs), and T and B lymphocyte immunophenotypes by flow cytometry. We assessed relationships between symptoms, serologies, and immunophenotypes in earlier (3/1/2020-1/31/2021) vs. later (2/1/2021-8/15/2022) periods, with different predominating SARS-CoV-2 viruses. Results57 subjects had earlier and 23 had later pandemic COVID-19. 35 % of earlier vs. 17 % of later pandemic patients had CTD symptoms (p 0.18). More patients were antinuclear antibody (ANA) positive (44 % vs. 13 %, p 0.01) and had lupus anticoagulant (11 % vs. 4 %, p 0.67). After adjustment for age, race, and sex, earlier (vs. later) COVID-19 was associated with increased ANA positivity (OR 4.60, 95%CI 1.17, 18.15). No subjects had positive CB-CAPs. T and B cell immunophenotypes and SARS-CoV-2 serologies did not differ by group. In heatmap analyses, higher autoantibody variety was seen among those with infection in the early pandemic. ConclusionIn this sample, having COVID-19 infection in the earlier (pre-2/1/2021) vs. later pandemic was associated with more CTD symptoms, ANA positivity, and autoantibody reactivities. Earlier SARS-CoV-2 variants circulating in a less vaccinated population with less natural immunity may have been more immunogenic.

Uncommon toxic epidermal necrolysis -like presentation of cutaneous lupus erythematosus: A series of 6 cases.

TEN like Lupus erythematosus is an uncommon life-threatening variant of Lupus erythematosus. It is usually associated with flares of systemic lupus erythematosus and also because of widespread skin erosions, it can cause acute skin failure. It is often confused with drug induced TEN, however the management of both the diseases is different and hence correct diagnosis becomes crucial. In this study we aimed to assess the clinical characteristics and outcome of TEN like LE in the Indian population. All patients satisfying ACR/EULAR 2019 criteria for SLE and clinically diagnosed with TEN like LE were retrospectively reviewed. A total of 6 patients were identified. All patients were female. Except 1 patient who presented de-novo, the others had pre-existing symptoms of connective tissue disease. Half of the patients had palmoplantar involvement. Mucosal involvement was only mild. Majority had systemic involvement in the form of nephritis followed by arthralgia, autoimmune hepatitis and autoimmune hemolytic anemia.

Time interval between the onset of connective tissue disease symptoms and first contact with a rheumatologist: results from the German National Database of collaborative arthritis centers

The long-term outcome of connective tissue diseases is associated with the time from symptom onset to diagnosis. To understand gaps in care, we determine whether the length of time between symptom onset and first presentation to a rheumatologist has changed in Germany in recent decades. We analyzed data on patients diagnosed with connective tissue diseases (n = 19,662) collected from the German National Database of the Regional Cooperative Rheumatology Centers. We reviewed the onset of relevant symptoms listed at first presentations from 1993 to 2018 and performed a quantitative analysis of the intervals until first presentation to a rheumatologist. We compared time intervals and performed a linear mixed regression model with random effects to identify associated factors. Although the interval between the onset of symptoms and first presentation to a rheumatologist has diminished since 1980 for all connective tissue diseases, there has been no relevant improvement during the past 2 decades. The interval between symptoms and presentation increases with patients age for all connective tissue diseases (e.g., Systemic sclerosis; for each 10-year-increment of patients age: β 0.41, CI 0.38; 0.44). Among those diagnosed with systemic sclerosis, the mean interval was 1.5 years (95% CI 1.1; 1.8) for male patients and 2.6 years (95% CI 2.4; 2.8) for females. Patients presenting with different degrees of disease severity on their first visits and with different educational levels had similar mean intervals between symptoms and first presentation regardless of their final diagnoses. Over the past 2 decades, the time to first consultation with a rheumatologist has not continued to improve in Germany, but has stagnated at the same level. Selected patient subgroups, such as older patients with suspected connective tissue diseases and female patients with suspected systemic sclerosis, are at risk to present late and may in particular benefit from an earlier referral to a rheumatologist.

Complete Congenital Heart Block in the Offspring of an Asymptomatic Woman with Isolated High Titer Anti-Ro Antibody

Among pregnant women, 1-2% are anti-Ro positive and while half of them have symptoms of connective tissuedisease, the rest are asymptomatic. The presence of anti-Ro is of concern because of the risk of congenital heartblock in the child.We report the case of an asymptomatic 27-year-old G2P1(1001) woman, who presented with persistent fetalbradycardia in her 21st week of gestation (AOG) and was found to have elevated titers for anti-Ro (>320 U/ml).Hydroxychloroquine 200 mg/day and prednisone 10 mg/day were given from the 33rd week of gestation up until the delivery. At 37 weeks AOG, she delivered a live male neonate with a complete heart block. On the 6th day of life, the infant remained bradycardic, hence a pacemaker was inserted and heart rate maintained at 100-120 bpm. On subsequent follow-ups, the mother and child did not develop any systemic manifestations and the infant was thriving well.While a diseased condition may not be apparent in a pregnant anti-Ro positive woman, the risk of neonatal lupus (NL) is demonstrated in this patient’s case. This report illustrates how prenatal care of an asymptomatic woman led to the discovery of a fetal abnormality and served to prepare the family and the medical team to ably handle the birth and subsequent care of a neonate with NL.

Pregnancy Outcomes in Undifferentiated Connective Tissue Disease Compared to Systemic Lupus Erythematosus: A Single Academic Center's Experience.

Systemic lupus erythematosus (SLE) patients have more pregnancy complications than healthy patients. Data regarding pregnancy outcomes in women with undifferentiated connective tissue disease (UCTD) are more limited, and existing studies are concentrated in Italy and predominantly in patients with a new diagnosis. Our objective was to compare pregnancy outcomes for UCTD and SLE patients with established disease. Between 2008 and 2017, patients with UCTD and SLE at an academic medical center were recruited to a prospective pregnancy registry. UCTD was defined as a positive autoantibody plus connective tissue disease symptoms not meeting criteria for another rheumatic diagnosis. SLE was defined by American College of Rheumatology or Systemic Lupus International Collaborating Clinics classification criteria or by physician diagnosis. Data were collected throughout pregnancy and postpartum. Comparator groups included UCTD, low-activity SLE, and high-activity SLE. A total of 150 SLE and 51 UCTD pregnancies were analyzed. Disease activity was low in most patients, although more patients with SLE had severe activity during pregnancy (12% versus 2%; P = 0.05). The frequencies of prematurity and preeclampsia were significantly lower in UCTD than in high-activity SLE patients (preterm 17% versus 45% [P = 0.004] and preeclampsia 6% versus 34% [P = 0.0008]), although similar to low-activity SLE patients. More infants who were small for gestational age were born to SLE than UCTD patients (33% versus 7% [P = 0.0005]), regardless of disease activity level. Pregnancies in women with UCTD managed by a rheumatologist have a high rate of pregnancy success and fewer risks than those in women with active SLE.

P13 Finding an answer for an adolescent with back pain

Case report - IntroductionThis is the case of an adolescent referred to rheumatology following 5 years of back pain. After years of trying a number of treatments without much success, the cause was found to be a previously undiagnosed urological pathology. The case highlights awareness of non-rheumatological causes and incidental findings which can redirect a patient towards more appropriate treatment and reduce the potential for long-term adverse health issues and anxiety.Case report - Case descriptionB was referred age 16 to rheumatology with a 5-year history of lower back pain. She had previously seen paediatricians with symptoms initially attributed to constipation due to intermittent straining and hard stool. However, constipation remedies had not relieved the pain which progressed gradually to a more persistent dull ache with impact on daily activities. Various analgesics (including paracetamol and non-steroidal anti-inflammatories), exercises and acupuncture had not helped. There was no history of recurrent urinary tract infections or symptom correlation with fluid intake, menstruation or bowel habit. No inflammatory features or connective tissue disease symptoms were noted and family history was unremarkable Clinical examination was normal apart from mild tenderness in the lumbar region.Rheumatoid factor was borderline positive (15 iu/mL) with the rest of blood tests normal including renal function, inflammatory markers (CRP, ESR), anti CCP and ANA. She had minimal microscopic haematuria without proteinuria. MRI spine in 2015 was normal. In view of her young age and symptoms affecting daily activities, STIR sequence spinal MRI was requested. This excluded any new or old inflammatory changes but incidentally identified a dilated left pelvi-calyceal system.Renal ultrasound confirmed a grossly hydronephrotic left kidney with hydroureter and minimal renal tissue suggesting longstanding obstruction. No calculi were seen. The patient was referred to urologists. Further investigations (including MRI abdomen) confirmed similar findings and a distal ureteric stricture. A MAG 3 renogram showed a normal right kidney but only 12% functioning of the left kidney. Urologists have advised surgery (removal of left kidney and ureter) which may relieve symptoms or a conservative non-surgical approach (continue analgesia, physiotherapy and monitoring). The patient and her family are relieved to have a possible cause identified and are considering the surgical option due to ongoing flank discomfort. Case report - DiscussionThis was an interesting finding of hydroureter and hydronephrosis causing longstanding back pain presenting to rheumatologists. Until completion of the spondyloarthropathy protocol MRI (STIR images), aetiology had been unclear. Hydronephrosis and hydroureter has no specific age or racial predilection. Signs and symptoms may depend on whether obstruction is acute/chronic. Chronic cases may be asymptomatic or present as a dull discomfort (like this case). Some cases may only present in adulthood with pain precipitated by fluid intake. Blood tests may show impaired kidney function. Post-mortem studies suggest 50% of people have at least one renal abnormality (e.g., renal cysts, duplex ureters) with autopsy series incidence of hydronephrosis reported as 3.1%. Causes include anatomical abnormalities such as vesico-ureteric reflux, urethral strictures (usually present in childhood), calculi, benign prostatic hyperplasia, or intrapelvic neoplasms, pregnancy and infections (e.g., TB). Sudden onset unilateral renomegaly was reported in one case of primary Sjogren’s with lymphocytic interstitial nephritis and positive Sjogren’s autoantibodies. Our patient has no clinical or serological evidence of connective tissue disease.Minor pelvi-calyceal distension can occur as a normal finding in well-hydrated patients and pregnancy. However, significant hydronephrosis requires assessment to determine cause as it may affect long term renal function. Imaging via computed tomography, ultrasound and urograms can help guide further management.In this case the preceding cause and duration of pathology is unknown. Sterile, giant hydronephrosis treatment options include observation and ureteric stent or nephrostomy in patients unfit for surgery. Nephrectomy is advised for pain and recurrent infection in a non-functioning kidney. Complications may include bowel perforation, vascular injury and urine leakage. Both open and minimally invasive procedures have good reported outcomes. The COVID-19 pandemic and exams have affected timing of any elective procedures and the patient understands surgery may or may not offer complete symptom resolution.Case report - Key learning pointsNon-inflammatory causes of back pain should always be considered in cases of persistent back pain, particularly in young people to ascertain if there is a treatable causeHydronephrosis cases can be asymptomatic or present with vague, intermittent, non-specific abdominal symptoms with normal physical examination with or without haematuria. This can cause diagnostic uncertainty and delay referral to urology and appropriate renal investigations Assessment of renal function (including MAG 3 renogram) is important to guide further managementSurgical interventions (pyeloplasty/nephrectomy) may ease symptoms long term but there is no guarantee of a successful outcome and operative risks need to be considered tooLeft undiagnosed, potentially this patient could have had further disruption to daily activities and both physical and mental well being

Recognition of Connective Tissue Disease-Related Interstitial Pneumonia Based on Histological Score-A Validation Study of an Online Diagnostic Decision Support Tool.

Objectives: to evaluate the number of cases of idiopathic pulmonary fibrosis (IPF) that included histological features of connective tissue disease (CTD) and to check whether they demonstrated the clinical features of CTD, using a previously reported CTD-interstitial pneumonia (IP) index that histologically differentiates CTD-associated and idiopathic IP. Methods: patients diagnosed with IPF following video-assisted thoracoscopic biopsy through multidisciplinary team diagnosis between 2014 and 2017 were selected. Pathological observation was made by four pathologists who scored eight observational items needed for the CTD-IP index. Cases determined as CTD, by the CTD-IP index, were extracted, and their clinical features were compared. Results: a total of 94 cases of IPF were identified, of which 20 were classified into the CTD group using the CTD-IP index with reasonable interobserver agreement (k = 0.76). Cases pathologically classified into the CTD group were significantly associated with female sex, non-smoking history, autoantibody positivity, and CTD symptoms (p = 0.01, 0.03, 0.01, and 0.04, respectively). Conclusions: patients with IPF with pathological findings of CTD showed clinical characteristics similar to those of patients with CTD.

EP26 HIV infection masquerading as connective tissue disease

Case report - IntroductionConnective tissue diseases are multisystem disorders. Diagnosis and evaluation of suspected cases is not straight forward in most of the cases. This case describes the significance of considering a broader approach when evaluating a suspected case of connective tissue disease.Case report - Case descriptionWe describe a case of 58 years old non-smoker lady, presented with acute onset livedo reticularis rash on lower limbs and background of sicca symptoms, oral ulcers, fatigue, paraesthesias in feet and arthralgias without any systemic or inflammatory joint symptoms.General examination showed livedo reticularis rash on both elbows and lower legs. There was no evidence of peripheral joint synovitis, but she had nodal osteoarthritis in her hands. Systemic examination was unremarkable.Investigations revealed anaemia, pancytopenia, ESR of 77, low C4 and urine dipstick positive for leucocytes, nitrates, protein, and blood. Schirmer’s test, ANA and ENA screen was positive with positive RNP and SMdp antibody. She also had hypergammaglobulinemia in a polyclonal pattern. Nerve Conduction and EMG studies revealed mild axonal sensory neuropathy.Case report - DiscussionThis lady appeared to have mixed connective tissue disease with mixed features of Sjögren’s syndrome and systemic lupus erythematosus. She was started on Hydroxychloroquine but stopped it shortly after developing floaters in her eye. She had poor response to Depomedrone injection. She had ongoing symptoms of fatigue, weight-loss, loose stools, and abdominal pain, investigated further and CT scan showed hyperdense liver lesions and mesenteric lymphadenopathy. Esophagogastroduodenoscopy showed oesophageal candidiasis. She was admitted with progressive symptoms. Further investigations showed a positive HIV test and liver biopsy came back positive for anaplastic lymphoma, later she was diagnosed with advanced HIV disease, rapidly deteriorated with neutropenic sepsis and multi-organ failure, and unfortunately died.Case report - Key learning pointsThis lady initially presented with symptoms of connective tissue disease and investigations in keeping with this diagnosis. Unfortunately, by the time she was tested for HIV infection, it was already too late. There could be overlap of symptoms of connective tissue disease and viral infections e.g. HIV infection. Autoantibodies may be falsely positive in infections e.g. HIV and in malignancy. Risk factors of HIV infection should be considered during assessment of multisystem diseases like connective tissue diseases particularly prior to immunosuppression. Viral screening including HIV test should be considered in all high-risk patients and particularly if the symptoms are atypical and do not quite fit well with the diagnosis.

EP06 COVID-19 masquerading as myositis and myopericarditis

Case report - IntroductionCoronavirus (SARS-COV-19) typically targets the respiratory tract; however extra-respiratory manifestations such as myositis and myopericarditis may be the only presenting feature.We present a patient with myopericarditis who developed sudden onset muscle weakness. CT thorax showed typical appearance of COVID-19 with an absence of respiratory symptoms. MRI of both thighs revealed diffuse symmetrical myositis. Her clinical and paraclinical abnormalities improved with the aid of steroids. We present our approach to the case and highlight that clinicians should consider myositis as another COVID-19 manifestation when reviewing the differentials. Case report - Case descriptionA 50-year-old female, non-smoker, presented with few days history of central chest pain radiating to her back. This was exacerbated by lying down and inspiration. Associated with mild shortness of breath on exertion. She denied upper respiratory tract symptoms.Her past medical history included hypertension and myopericarditis in 2012 and 2013 requiring pericardiocentesis. In 2017 she presented with post-streptococcal erythema nodosum and reactive arthritis in left ankle.On auscultation her heart sounds were normal, and chest was clear. Initial investigations revealed a mild lymphopenia 0.63, a C-reactive protein of 11mg/L, and a raised troponin 77 and 103 on repeat. D-dimer, Chest x-ray were normal. ECHO showed trivial anterior pericardial effusion, good biventricular function. Treatment included colchicine 500 micrograms four times a day and Ibuprofen 400 mg three times a day.On her second day of admission she developed hypotensive episodes BP 75/49 mm/Hg and mild pyrexia of 37.5 degrees. Her chest pain continued. Electrocardiogram was normal, repeat echocardiogram showed stable 1.40 cm pericardial effusion. CT thorax revealed no dissection or features suggesting pulmonary sarcoidosis but ground-glass opacity changes in keeping with COVID-19. Her COVID-19 swab test came back positive.On the 4th day of admission, she complained of sudden onset of severe pain affecting her thighs, shoulders, and arms, with marked proximal lower limbs and truncal weakness. Because of this, she struggled to mobilise. There was a rapid rise in her creatine kinase from 6.423U/L (day 5) to 32.230 U/L (day 7). ALT increased to 136. MRI showed diffuse myositis with symmetrical appearances involving the anterior, medial, and posterior muscle compartments of both thighs.In view of her previous and current presentation, autoimmune screen and extended myositis immunoblot were sent and were negative. Interestingly, her clinical and paraclinical abnormalities improved dramatically after few days with no steroids initially.Case report - DiscussionThe identification of extra-pulmonary manifestations neurological, cardiac, and muscular have recently increased as the number of COVID-19 cases grow. This case highlights cardiac and skeletal muscle involvement could perhaps represent early or only manifestation of COVID-19.Cardiac involvement in COVID-19 commonly manifests as acute cardiac injury (8–12%), arrhythmia (8.9–16.7%) and myocarditis. In our case the cardiac MRI demonstrated evidence of myocarditis in the basal inferoseptum and apex. Myalgia and muscle weakness are among the symptoms described by patients affected by COVID-19. Some studies report the prevalence of myalgia to be between 11%-50%. The onset of symptoms and the fact that her symptoms improved rapidly led us to consider a viral myositis as the underlying cause, the viral component being COVID-19. We also considered other potential causes. There are reported cases of colchicine myopathy however this is more common in patients with renal impairment, which was absent in this case.On further examination she did not have other clinical signs or symptoms of connective tissue disease or extra muscular manifestation of autoimmune myositis. Her abnormal ALT may be derived from damaged muscle, and therefore in this context is not necessarily a specific indicator of liver disease. Interestingly abnormal liver function tests have been attributed in 16 - 53% of COVID-19 cases. Little is known about the multiple biologic characteristics of COVID-19 and there are no established clinic serological criteria for COVID-19 related myositis nor useful values/cut offs to exclude cardiac involvement in myositis, further research is therefore warranted.In conclusion, clinicians should be aware of the rare manifestation of COVID-19 and consider this in the differentials. Of course, it is important in the first instant to rule out any serious underlying disease or overlap disorder before attributing symptoms to COVID-19. Case report - Key learning points Myositis is a rare manifestation of COVID-19 that clinicians should be aware of.Detailed medical history, examination and investigations identifies the most likely underlying cause.In the right clinical context, COVID-19 – 19 testing should be included in baseline tests of patients presenting with myositis.

Clinical symptoms in rheumatology

Rheumatology is one of the areas of internal medicine that deals with the diagnosis and treatment of rheumatic diseases. The term rheumatology is based on the merger of the words «rheuma», which means «flowing current», and «logos», which means «studies». Thus, the subject of the rheumatology study is inflammatory and degenerative-dystrophic diseases affecting the joints, as well as systemic diseases of the connective tissues (the outdated name is collagenosis). Diversity and polymorphism of the clinical symptoms of connective tissue diseases often leads to the difficulties in diagnosis and timely treatment.

27. A new presentation of interstitial lung disease

27. A new presentation of interstitial lung disease

51. An atypical case of GCA: an innocuous presentation ending with ophthalmic complications and cerebral vasculitis

IntroductionDespite being the most common form of primary systemic vasculitis in adults, giant cell arteritis (GCA) remains a difficult diagnosis to make due to the breadth and versatility of presenting symptoms and signs. Many patients present with a myriad of symptoms which don’t fit neatly into the American College of Rheumatology criteria (1990) often with a negative or absent temporal artery biopsy. Here we describe an atypical and aggressive presentation of a patient with GCA.Case descriptionA 77-year old male with a background of pertussis was initially referred to the medical take with 2 weeks of lethargy, raised C-reactive protein (343) and white cell count (27.8). He admitted to fevers, myalgia and sweats but denied any GCA symptoms. Examination revealed no abnormalities. He was treated for an infection of unknown source with broad spectrum antibiotics. A CT chest, abdomen and pelvis showed bibasal consolidation in the lungs with small effusions. He went on to have negative blood, sputum and urine cultures. Despite antibiotic escalations, his inflammatory markers remained high. An echocardiogram showed no vegetations. His pleural effusions were aspirated and revealed a transudative lymphocytic fluid with no acid-fast bacilli. He was then referred to rheumatology. He denied GCA or connective tissue disease symptoms. He had a persistently raised CRP (>150) and WCC (>15) with no fevers. Examination revealed present temporal artery pulses and no abnormalities. Immunology was negative (ANA, ENA, ANCA and CCP). A PET scan showed no changes consistent with a malignancy, large vessel vasculitis or infection. He was labelled as an undifferentiated autoimmune disorder by the medical team and given a trial of prednisolone 30mg to which his CRP fell from 265 to 41. He was discharged with general medical follow-up and a prednisolone weaning regime. After 1 month he re-presented to the medical take with acute bilateral visual loss (on 15mg prednisolone). This was preceded by a 2-week history of bitemporal headaches. There was no history of polymyalgia, jaw claudication or scalp tenderness. Ocular examination revealed bilateral swollen optic discs. He was admitted and treated with pulsed intravenous methylprednisolone. An MRA of his head and neck showed intracranial irregularities consistent with a cerebral vasculitis. He was started on methotrexate alongside prednisolone and referred to the regional GCA centre for tocilizumab therapy. DiscussionThe frequency of ophthalmic complications in GCA is quoted to be as high as 30%. The case above presented with non-specific symptoms and extremely raised inflammatory markers. Despite numerous investigations including a PET scan, a definitive diagnosis was not made without the final presentation of permanent bilateral visual loss. The patient had appropriate and timely investigations for his symptoms at initial admission (blood tests, cultures, CT and PET imaging). Positive findings were appropriately investigated further. Ultimately, he was trialled with prednisolone when infection and malignancy were excluded by the medical team and discharged with follow up. Unfortunately, he was then readmitted with a dramatic relapse. The British Society for Rheumatology recommends starting methotrexate following recurrent relapses in GCA, but we decided to start methotrexate due to the aggressive nature of his disease (sudden onset visual loss and cerebral vasculitis on MRA).Few randomised controlled studies, case-control studies and meta-analyses have looked at the efficacy and steroid-sparing effects of methotrexate introduction at diagnosis of GCA to conflicting results. Jover et al. (2001) showed that low dose methotrexate (10mg) was effective in controlling GCA disease activity. This was supported by a meta-analysis (Mahr et al., 2007) and most recently in a retrospective case-control study (Koster et al., 2019). The larger and well-designed Hoffman et al. (2002) trial showed a small benefit from methotrexate introduction but no statistical significance. There has been no large-trial convincing evidence of methotrexate efficacy in GCA at introduction or for relapses and this is reflected in the national guidance. However, the trials above used relatively low doses of methotrexate. Some of the trial also had short follow-up times and with slow steroid weans possibly masking a positive methotrexate effect. Key learning pointsDespite the vague and nondescript presentation of this patient, focusing on subtleties from the history and having a high index of suspicion are vital to making a diagnosis of GCA.The patient had a negative PET scan despite progression to severe disease within 1 month. PET studies have shown high sensitivity and specificity values for the diagnosis of large vessel inflammation in GCA (90% and 98% respectively – Soussan et al., 2015). However, the lack of large vessel involvement on this scan was falsely reassuring. Conflicts of interestThe authors have declared no conflicts of interest.

Objawy choroby tkanki łącznej u chorej ze szpiczakiem plazmocytowym – opis przypadku

Wstęp: Szpiczak plazmocytowy jest chorobą nowotworową układu limfatycznego, która charakteryzuje się proliferacją i gromadzeniem monoklonalnych plazmocytów wytwarzających zwykle monoklonalną immunoglobulinę. Występuje najczęściej u ludzi starszych. Pierwsze objawy są nieswoiste, należą do nich m.in. bóle kostne oraz osłabienie związane z niedokrwistością. W zaawansowanym klinicznie szpiczaku objawy wynikają na ogół ze współwystępowania zmian osteolitycznych, a także złamań patologicznych. Szpiczak może przypominać obraz wielu innych chorób, w tym także chorób reumatycznych.Opis przypadku: Przedstawiono przypadek chorej, która zgłaszała objawy choroby tkanki łącznej w przebiegu szpiczaka plazmocytowego.Wnioski: Objawy układowej choroby tkanki łącznej mogą wyprzedzać lub maskować objawy choroby nowotworowej. W przypadkach niecharakterystycznego przebiegu zawsze należy poszerzyć diagnostykę w kierunku procesu rozrostowego.

Idiopathic Interstitial Pneumonia Associated With Autoantibodies: A Large Case Series Followed Over 1 Year

Some patients with autoimmune characteristics and idiopathic interstitial pneumonia, particularly usual interstitial pneumonia (UIP), do not fit neatly into the category of connective tissue disease-associated interstitial lung disease (CTD-ILD), idiopathic pulmonary fibrosis (IPF), or recently proposed yet to be validated criteria for interstitial pneumonia with autoimmune features (IPAF). Outcomes of these patients are unknown. This was a retrospective single-center study. Analyses of variance compared differences in mean change in FVC and diffusion capacity (Dlco) over 1 year among 124 well-defined patients (20 patients with positive autoantibodies with or without symptoms of connective tissue disease [AI-ILD], 15 patients with IPAF, 36 patients with CTD-ILD, and 53 patients with IPF with negative CTD serologies [Lone-IPF]). Of the patients, 75%with AI-ILD, 33%with IPAF, and 33%with CTD-ILD had UIP. Initial FVC and Dlco were similarly moderately reduced across groups. Mean change in FVC over 12months was as follows:-60mL (IPAF),-110mL (AI-ILD),-10mL (CTD-ILD), and-90mL (Lone-IPF) (P= .52). Mean change in Dlco was as follows: 2.39mL/mmHg/min (IPAF),-1.15mL/mmHg/min (AI-ILD),-0.27mL/mmHg/min (CTD-ILD), and-1.05mL/mmHg/min (Lone-IPF) (P< .001). By pattern of disease, the mean change in FVC was as follows:-140mL (UIP), 10mL (nonspecific interstitial pneumonia), and 12mL (unclassifiable/other) (P= .001). No clinically significant differences in pulmonary function to distinguish between patients with AI-ILD, IPAF, CTD-ILD, and Lone-IPF were observed after 1 year. Longer periods of follow-up are needed to understand the outcomes of these patients. It is not yet clear whether AI-ILD is a distinct phenotype or a variant of the newly proposed entity IPAF.

Bagpipe lung; a new type of interstitial lung disease?

Hypersensitivity pneumonitis (HP) is an inflammatory lung disease mediated by an immunological response to an inhaled antigen and can progress to disabling or fatal lung disease. It is related to...

Raynaud's phenomenon.

Raynaud's phenomenon (RP) is common, affecting approximately 5% of the population, and is important to the rheumatologist because it is often the presenting symptom of connective tissue disease, especially of systemic sclerosis (SSc)-spectrum disorders. RP therefore provides a window of opportunity for early diagnosis. When RP is associated with SSc it is particularly challenging to treat. This review begins with a discussion of some of the recent advances in our understanding of the pathogenesis of RP: it is through increased understanding of the complex pathophysiology of RP that we are most likely to develop new therapies. The following questions are then addressed (with three clinical scenarios demonstrating key principles of assessment and management): 1. How can we predict underlying connective tissue disease in the patient presenting with Raynaud's? 2. How can we measure severity of Raynaud's? 3. What are the latest advances in treatment of connective tissue disease-related digital vasculopathy?

Acral erythma as a manifestation of undifferentiated connective tissue disease

Acral erythema (AE) is a swelling and numbness of the hands and feet that is observed in viral infections such as hepatitis C, HIV, and toxic drug induced skin reactions (chemotherapy). Patients with undifferentiated connective tissue disease (UCTD) may present with various symptoms. The most common symptoms at presentation include Raynaud's phenomenon (48-59%), arthralgia (37-81%), arthritis (22-71%), mucocutaneous symptoms such as photosensitivity, malar rash, alopecia and oral ulcerations (23-52%), fever (15-23%), sicca symptoms (12-42%) and central nervous system symptoms (8.5%). There is no literature available on patient presenting with AE as a symptom of connective tissue disease who are not on any treatment. In this particular patient icterus, multiple oral ulcers, bilateral pitting edema feet and reddish discoloration of palms and soles were present. Nervous system examination revealed weakness in muscles of shoulder and pelvic girdle (power grade 3/5). Laboratory investigations showed conjugated hyperbilirubinemia, raised liver enzymes and albuminuria. HIV and hepatitis C serology was negative. Electromyography showed mixed neurogenic and myogenic pathology. Autoantibody testing revealed that the patient was positive for the following: Antiribonucleoprotein (RNP) antibody, anti-Smith antibodies, anti-double-stranded DNA antibody, antihistone antibodies, antinucleosomal antibodies, antiribosomal P antibody thereby suggesting UCTD. This case is unique for the fact that AE was the sole cutaneous manifestation of connective tissue disorder without any history of drug intake.

Interstitial Pneumonia Related to Undifferentiated Connective Tissue Disease: Pathologic Pattern and Prognosis

Undifferentiated connective tissue disease (UCTD) involves conditions characterized by both having symptoms of connective tissue disease (CTD) and autoantibodies but not fulfilling the criteria of a specific CTD. The frequency or prognosis of the usual interstitial pneumonia (UIP) pattern in UCTD is unknown, which may be confused with idiopathic pulmonary fibrosis (IPF). This study aimed to investigate the frequency of the UIP pattern in interstitial pneumonia related to UCTD and compare its prognosis with that of IPF and UCTD-nonspecific interstitial pneumonia (UCTD-NSIP). The medical records of 788 patients presumptively diagnosed with idiopathic interstitial pneumonia at Asan Medical Center from January 2005 to December 2012 were retrospectively reviewed. UCTD was diagnosed according to the criteria by Corte and colleagues, and the prognoses were compared between UCTD-UIP and UCTD-NSIP and between UCTD-UIP and IPF. Among 105 patients with UCTD (13.3% of total subjects), 44 had a UIP pattern (by surgical lung biopsy: 24; by high-resolution CT scan: 20), 29 had a nonspecific interstitial pneumonia pattern (by surgical lung biopsy), and nine had an organizing pneumonia pattern (by biopsy). The overall survival of the UCTD-UIP group was shorter than that of the UCTD-NSIP group (P = .021) but significantly better than that of the IPF group (P = .042). A UIP pattern, which seems to be frequent in UCTD, showed a poorer prognosis than that of UCTD-NSIP. However, the prognosis of UCTD-UIP was significantly better than that of IPF, highlighting the importance of searching for underlying UCTD in suspected IPF cases.

AB0371 Clinical Significance of Anti-Adalimumab Antibodies in Rheumatoid Arthritis, Ankylosing Spondilitis and Psoriasic Arthritis

BackgroundThe generation of antidrug antibody (ADAb) is increasingly recognised as a mechanism explaining the failure of anti-TNF drugs in chronic inflammatory diseases.ObjectivesWe designed a prospective, multicentre study on antibodies against...