Mixed Connective Tissue Disease Research Articles

Pediatric mixed connective tissue disease versus other overlap syndromes: a retrospective multicenter cohort study.

Pediatric mixed connective tissue disease (MCTD) is a subgroup of overlap syndromes. We aimed to compare the characteristics and outcomes in children with MCTD and other overlap syndromes. All MCTD patients met either Kasukawa or Alarcon-Segovia and Villareal criteria. The patients with other overlap syndromes had the features of ≥ 2 autoimmune rheumatic diseases but did not meet MCTD diagnostic criteria. Thirty MCTD (F/M = 28/2) and thirty (F/M = 29/1) overlap patients were included (disease onset < 18years). The most prominent phenotype at disease onset and the last visit was systemic lupus erythematosus (SLE) in the MCTD group; juvenile idiopathic arthritis and dermatomyositis/polymyositis, respectively, in the overlap group. At the last visit, systemic sclerosis (SSc) phenotype was more frequent among MCTD than overlap patients (60% vs. 33.3%; p = 0.038). The frequency of the predominant SLE phenotype had decreased (60% to 36.7%), while predominant SSc phenotype had increased (13.3% to 33.3%) during follow-up in MCTD patients. Weight loss (36.7% vs. 13.3%), digital ulcers (20% vs. 0), swollen hands (60% vs. 20%), Raynaud phenomenon (86.7% vs. 46.7%), hematologic involvement (70% vs. 26.7%), and anti-Sm positivity (29% vs. 3.3%) were more common, while Gottron papules (16.7% vs. 40%) were less frequent among MCTD than overlap patients (p < 0.05). A higher percentage of overlap patients achieved complete remission than MCTD patients (51.7% vs. 24.1%; p = 0.047). The disease phenotype and outcome differ between pediatric MCTD and other overlap syndromes where MCTD may be regarded as a more severe disease. Analyzing these patients could pave the way for early and effective treatment.

Prevalence, imaging patterns and risk factors of interstitial lung disease in connective tissue disease: a systematic review and meta-analysis.

Interstitial lung disease (ILD) is a frequent manifestation of connective tissue disease (CTD) with substantial variability in prevalence and outcomes reported across CTD subtypes. This systematic review summarises the prevalence, risk factors and ILD patterns on chest computed tomography of CTD-ILD. A comprehensive search was performed in Medline and Embase to identify eligible studies. Meta-analyses were completed using a random effects model to determine the pooled prevalence of CTD-ILD and ILD patterns. 11 582 unique citations were identified with 237 articles included. Pooled prevalence of ILD was 11% in rheumatoid arthritis (95% CI 7-15%), 47% in systemic sclerosis (44-50%), 41% in idiopathic inflammatory myositis (33-50%), 17% in primary Sjögren's syndrome (12-21%), 56% in mixed connective tissue disease (39-72%) and 6% in systemic lupus erythematosus (3-10%). Usual interstitial pneumonia was the most prevalent ILD pattern in rheumatoid arthritis (pooled prevalence of 46%), while nonspecific interstitial pneumonia was the most common ILD pattern in all other CTD subtypes (pooled prevalence range 27-76%). Across all CTDs with available data, positive serology and higher inflammatory markers were risk factors for development of ILD. We identified substantial variability in ILD across CTD subtypes suggesting that CTD-ILD is too heterogenous to be considered a single entity.

Inflammatory rheumatic diseases developed after COVID-19 vaccination: presentation of a case series and review of the literature.

An increasing number of new on-set autoimmune-inflammatory rheumatic diseases (AIRD) after COVID-19 vaccination has begun to be reported in the literature. In this article, we present our patients with new-onset AIRD after vaccination for COVID-19 and review the literature on the subject. We investigated the clinical characteristics and laboratory parameters of previously described "newly developed AIRD in individuals recently vaccinated for COVID-19", in 22 cases vaccinated with one of the COVID-19 vaccines (BNT162b2 or CoronaVac) approved in our country. We collected 22 cases (14 female, 63.6%) that developed an AIRD after COVID-19 vaccination. Mean age was 53±14.4 (24-87) years. The interval between the last dose of vaccination and the development of the first complaint was 23.9±19.5 (4-90) days. CoronaVac was administered to four patients, and the BNT162b2 to 18 patients. AIRD-related symptoms developed in 12 patients after the first dose, in 8 patients after the second dose, and in two patients after the third dose. Twelve out of the 22 (54.5%) cases were diagnosed with rheumatoid arthritis, two with SLE, and the remaining eight patients each with leukocytoclastic vasculitis, Sjogren's syndrome, psoriatic arthritis, ankylosing spondylitis, systemic sclerosis, mixed connective tissue disease, eosinophilic granulomatosis with polyangiitis, and inflammatory myositis, respectively. Six patients had a history of documented antecedent COVID-19 infection. Autoimmune/inflammatory rheumatic diseases may develop after COVID-19 vaccinations. In the era of the COVID-19 pandemic, vaccination should be questioned carefully in newly diagnosed AIRD patients.

The prevalence of pulmonary arterial hypertension in patients with mixed connective tissue disease: a systematic review and meta-analysis.

The prevalence and outcome of mixed connective tissue disease-associated pulmonary arterial hypertension (MCTD-PAH) has not been well understood. Our aim was to review the current knowledge on the prevalence, severity, and mortality of MCTD-PAH. We also aimed to examine the prevalence trend of MCTD-PAH over the years. PubMed/Medline, Embase, Scopus and Web of Science electronic databases were searched for the published randomised controlled clinical trials (RCTs) and observational/original studies on PAH in patients with MCTD from January 1972 to December 2020. The results were pooled using random-effects meta-analysis based on DerSimonian and Laird method. A total of 983 patients from eight studies were included in the meta-analysis (K=8, n=983). Pooled prevalence of PAH in MCTD patients was 12.53% [95% CI 8.30-18.48%] with significant level statistical heterogeneity (tau2=0.30, tau=0.55, i2 83.3%, H=2.13 Q(df,7)=31.90, p=0.001). There was no association between PAH and female gender or age. The percentage of deaths in MCTD patients due to PAH varied and reached up to 81.8%. This is the first systematic review and meta-analysis investigating the prevalence of PAH in patients with MCTD and it revealed an overall prevalence of PAH in patients with MCTD of 12.53%. Our results showed trends of reduced prevalence of MCTD-PAH over last four decade, reconfirmed the lower prevalence rate in recent studies, but revealed an increased mortality rate. We also determined the low impact of the age, gender, and interstitial lung disease on MCTD-PAH.

A rare case of deformity: Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most debilitating condition of heterotopic ossification in humans. Misdiagnosis is common and they suffer from complications of incorrect diagnosis and subsequent inappropriate treatment hence, to create awareness, we are reporting a genetically confirmed case of FOP. A 10-year-old boy, born to a non-consanguineously married couple, presented with progressive stiffness of the neck, back, and limbs with restriction of movements. Examination showed two firm non-tender immobile swellings over the back with scoliosis towards the left side. A bilateral hallux valgus deformity with restricted movements of the great toe was noted. Outside treated as mixed connective tissue disorder without any improvement. The X-ray showed calcifications in the swellings. Genetic testing showed the pathogenic variant in the activin A receptor type 1 gene. The FOP should be considered in children presenting with progressive stiffness, deformity of the feet, and ectopic ossifications to avoid misdiagnosis and inappropriate treatment.

Concurrence of immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura: a case report and review of the literature

BackgroundImmune thrombocytopenic purpura and thrombotic thrombocytopenic purpura are both causes of thrombocytopenia. Recognizing thrombotic thrombocytopenic purpura is crucial for subsequent treatment and prognosis. In clinical practice, corticosteroids and rituximab can be used to treat both immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura; plasma exchange therapy is the first-line treatment in thrombotic thrombocytopenic purpura, while corticosteroids are strongly recommended as first-line treatment in immune thrombocytopenic purpura. The differential diagnosis of immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura is essential in clinical practice. However, case reports have suggested that immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura can occur concurrently.Case presentationWe report the case of a 32-year-old Asian female without previous disease who presented with pancytopenia, concurrent with immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura. The morphology of the megakaryocytes in the bone marrow indicated immune-mediated thrombocytopenia. The patient received glucocorticoid treatment, and her platelet count increased; however, schistocytes remained high during the course of the therapy. Further investigations revealed ADAMTS13 activity deficiency and positive ADAMTS13 antibodies. The high titer of antinuclear antibody and positive anti-U1-ribonucleoprotein/Smith antibody indicated a potential autoimmune disease. However, the patient did not fulfill the current criteria for systemic lupus erythematosus or mixed connective tissue disease. The patient responded well to plasma exchange therapy, and her platelet count remained normal on further follow-up.ConclusionsConcurrence of immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura is rare, but clinicians should be aware of this entity to ensure prompt medical intervention. Most of the reported cases involve young women. Human immunodeficiency virus infection, pregnancy, and autoimmune disease are the most common underlying conditions.

707 - Acute motor and sensory axonal neuropathy in a patient with undiagnosed mixed connective tissue disease

707 - Acute motor and sensory axonal neuropathy in a patient with undiagnosed mixed connective tissue disease

Nailfold Capillaroscopy in Early Stages of Mixed Connective Tissue Disease in a Sample of Egyptian Patients

Introduction: Mixed connective tissue disease (MCTD) is a systemic autoimmune disease with a high titer of anti-U1 small nuclear ribonucleoprotein particles and a number of clinical pictures, mainly Raynaud's phenomenon. Nailfold capillaroscopy (NFC) is a noninvasive diagnostic tool for patients with different connective tissue diseases that permit detection of local microvascular changes that correlate with systemic vascular involvement. Aim of the Study: The aim of this study was to compare the results of NFC in patients with systemic sclerosis (SSc) and MCTD to determine the chief characteristics of skin microangiopathy in early MCTD and attempt to describe a characteristic MCTD pattern in Egyptian patients. Methodology: This cross-sectional study included forty patients diagnosed with MCTD according to Alarcón-Segovia and Villareal criteria and twenty patients with confirmed systemic sclerosis according to the American College of Rheumatology and the European League against Rheumatism classification criteria for Systemic Sclerosis. Nailfold examination for the study subjects was performed describing architectural derangement, capillary density changes, mega capillary and enlarged loops, microhemorrhages, and angiogenesis. Results: Of the sixty patients studied, 49 (81.7%) patients were females and 11 were males with a mean age of 31 years with a median of 29.5 and range 16–52 years. Three of the twenty patients diagnosed with systemic sclerosis had arthritis. Out of sixty patients, 53.3% had thickened skin, 19 patients exhibited puffy fingers, six patients showed rash, and none had swollen joints. The skin was significantly thicker in systemic sclerosis patients (85%) compared to 37.5% in the MCTD population. Patients presented with various features, the most common of which was fatigue (26.7%) and myositis (23% of patients). There is a significant negative correlation of −0.508 (P = 0.022) between the enlargement scores and illness duration in systemic sclerosis patients. Those patients also exhibited a statistically significant positive correlation of 0.520 (P = 0.019) between hemorrhage score and the number of tender joints. Alternatively, patients diagnosed with MCTD exhibited a significant positive correlation between the architectural changes scores of their joints and both the duration of their illness (0.347; P = 0.028) and the number of swollen joints (0.424; P = 0.006). MCTD patients also showed a significant correlation of 0.423 (P = 0.007) between their hemorrhage scores and their age at the time of the study. Conclusion: In this study, the results obtained were qualitatively satisfactory for clear delineation of the nailfold capillaries features in MCTD. Therefore, it aids in the recognition of alternations in nailfold capillaries making an early prediction of course of illness in MCTD patients possible and suggests a potential ability to differentiate from early SSc, thus helps in preventing morbidities and sequelae of the disease.

PS-BPR02-2: ECULIZUMAB FOR RESCUE OF THROMBOTIC MICROANGIOPATHY IN MALIGNANT HYPERTENSION ASSOCIATED WITH MCTD

Introduction: Eculizumab is effective in atypical hemolytic uremic syndrome (aHUS) caused by complement abnormalities, but its effect on secondary thrombotic microangiopathy (TMA) is obscure. We here report a case of TMA associated with malignant hypertension, who was successfully treated with an ACE inhibitor, plasma exchange and eculizumab. Case report: The patient was a 40-year-old woman presenting with severe blood pressure elevation (BP 240/140 mmHg), nausea, fatigue, headache, and visual disturbances. She had a history of systematic lupus erythematosus (SLE) and had been stable by the treatment with 5 mg/day of prednisolone and 2 mg/day of tacrolimus for a long period. This time, she exhibited Raynaud's phenomenon, mild skin lesions, and heliotrope eruption on the eyelids, together with positive anti-U1-RNP antibodies. She was diagnosed with mixed connective tissue disease (MCTD), instead of SLE. Acute kidney injury (serum creatinine, 3.24 mg/dL), anemia (hemoglobin, 8.8 g/dL) and thrombocytopenia (platelets, 137,000/μL) were observed. LDH was elevated at 780 IU/L. The haptoglobin level was decreased to less than detection sensitivity and schistocytes were observed in her peripheral blood. The plasma renin activity was beyond the highest limit. On head MRI, posterior reversible encephalopathy syndrome (PRES) was suggested. A renal biopsy was performed, and a histological diagnosis of malignant hypertensive arteriolosclerosis was obtained. Based on these findings, she was diagnosed as accelerated malignant hypertension, possibly due to TMA with a background of MCTD. She was initially treated with nicardipine, enalapril and aliskiren, but this treatment failed to ameliorate the progression of kidney injury and TMA. Therefore, plasma exchange therapy was performed three days in a row, and then hemodialysis and administration of eculizumab were introduced. After weekly induction dose (900 mg once a week) was given four times, administration of 900–1200 mg of eculizumab every 2 weeks were continued. As the treatment was continued, her renal function was improved gradually. Fifteen months after her onset of AKI and TMA, the patient was withdrawn from dialysis and eculizumab therapy. Conclusion: A body of evidence is growing that activation of the complement system may be involved in scleroderma renal crisis. However, the efficacy of eculizumab in TMA, except for aHUS, remains controversial. Our case suggest a possible efficacy of eculizumab along with plasma exchange, as the treatment of malignant hypertension due to scleroderma that was caused by MCTD.

Синдром Шарпа: от базисной противовоспалительной терапии к генно-инженерным биологическим препаратам

This article presents a clinical case of a patient with a mixed connective tissue disease. The clinical picture in the debut was polymorphic, the patient had arthritis, skin lesions, general inflammation, myopathy, Raynaud’s syndrome, dysphagia, angio-neurotic edema. The immunological panel reflected the presence of antibodies characteristic of autoimmune diseases (antinuclear antibodies, antibodies to ribonucleoprotein, antimitochondrial antibodies, antibodies to cytoplasmic antigen SS-B). Glucocorticosteroids (GCS), immunosuppressive drugs (metatrexate, sulfasalazine, hydroxychloroquine, azathioprine) were used as starting therapy, but the disease progressed. Pulse therapy of GCS and plasmapheresis did not give a positive result. We used Rituximab, because the pathogenesis of the disease was characterized by the activation of B-cells. Currently, two infusions have been performed, positive dynamics has been noted. Thus, the therapy of mixed connective tissue disease creates many diagnostic and therapeutic problems in clinical practice.

Очаговые образования в легких у ревматологических больных

Focal pulmonary masses in patients suffering from rheumatological diseases cause difficulties in conducting differential diagnosis with neoplastic and infectious processes, primarily with tuberculosis. In many cases, these masses are asymptomatic, being an accidental finding during routine examinations. Focal pulmonary masses can cause various comorbidities, such as hemoptysis and pneumothorax. In rheumatic diseases, the frequency of such masses ranges from 1 to 30%, as well as their incorrect diagnosis commonly leads to a wrong therapy choice. The article presents two clinical cases concerning the detection of focal pulmonary masses, which were observed during the visit to a rheumatologist: in patients with rheumatoid arthritis and with mixed connective tissue disease. Both cases are illustrated with follow-up computer tomography data. The presented clinical cases demonstrate various manifestations that a radiotherapist may encounter in this patient cohort: nodular masses, cavitation, infiltration, etc. Only a combination of clinical, anamnestic and laboratory data, along with X-ray data, allows to establish the correct diagnosis, commonly with case follow-up of the patient. KEYWORDS: focal pulmonary masses, rheumatoid arthritis, lung damage, rheumatoid nodules, tuberculosis, systemic connective tissue diseases. FOR CITATION: Teplyakova O.V., Shai S.E., Yakovleva Yu.V., Leshchenko I.V., Sarapulova A.V., Kolmakova O.V. Focal pulmonary masses in patients with rheumatological pathologies. Russian Medical Inquiry. 2023;7(7):467–471 (in Russ.). DOI: 10.32364/2587-6821-2023-7-7-10.

Dermoscopy of Crusted Scabies: Revisiting the New and Old Signs.

Dear Editor, Scabies is a common ectoparasitosis in India caused by the eight-legged mite, Sarcoptes scabiei var. hominis. Crusted scabies occurs predominantly in immunosuppressed individuals and presents with diffuse hyperkeratotic scales, crusts, or even erythroderma. It is highly contagious because crusted scabies patient may harbor millions of mites on their body in contrast to 10–12 mites found in classical scabies.[1] It may often be misdiagnosed due to the absence of typical nocturnal pruritus and atypical clinical presentations. Dermoscopy is extremely useful in the diagnosis of this uncommon variant of the common parasitosis. We present a case of crusted scabies showing the classical and newly described dermoscopic signs. A 38-year-old female, case of mixed connective tissue disease, on treatment with daily prednisolone (10 mg) along with azathioprine 100 mg and admitted to the medical ward due to cirrhosis and ascites, presented with skin rash of 1 month duration. On clinical examination, generalized erythematous rash with scaly papules and crusting was seen along with multiple dry crusted hyperkeratotic plaques (showing wet sand appearance) predominantly over the bony prominences, trunk, limbs, and scalp [Figure 1].Figure 1: (a) multiple dry crusted hyperkeratotic plaques with erythematous scaly papules and crusting. (b) scaly crusted plaque involving the scalp. (c) “wet sandpaper” appearance of crusted plaquesDermoscopic examination showed numerous burrows in a “noodle-like pattern” with multiple brownish triangular structures (delta glider sign) [Figure 2a]. These burrows showed the “gray-edged line sign”, which is a gray-brownish line on the outer edges of the burrow (Figure 2b) and wake sign [Figure 3]. Potassium hydroxide (KOH) mount of scales revealed numerous scabies mites and eggs [Figure 4]. On histopathology, hyperkeratosis, parakeratosis, acanthosis, and scabies mites in the stratum corneum were seen [Figure 5]. The patient was advised topical application of 5% permethrin cream every third day for 2 weeks along with oral ivermectin 12 mg to be taken on day 1, 2, and 8.Figure 2: Dermoscopy showing (a) “noodle-like pattern” consisting of accumulation of several curvilinear burrows displaying the “gray-edged line sign” [blue arrowhead (in fig b also)]. (Heine delta NC1, polarized, 10×) (b) brown-colored triangular structure (yellow arrow) that simulates a delta glider trailed by the jet contrail (inset). (Dinolite Videodermoscope polarized non-contact 50x)Figure 3: Wake sign—the burrow (black lines) and the wake-shaped scale (dashed line) together presenting a Y-shaped lesion. (Higher magnification Dinolite Videodermoscope polarized non-contact 50×)Figure 4: Potassium hydroxide mount showing numerous mites (red arrows), eggs (blue arrowhead), and scybala (yellow circles)Figure 5: Multiple scabies mites (black arrow) in stratum corneum (H & E 10x)Burrows are the pathognomonic lesions of scabies; however, they are difficult to be seen on naked eyes, especially in brown skin and in patients with excoriations. Various eponymous dermoscopic signs of scabies include “Delta sign”/“hang glider sign”/“triangle sign” (brownish triangular structures in the shape of hang glider) corresponding to the head and anterior legs of the mite and “Jetliner with contrail sign” (where the mite body appears translucent and air-filled burrow resembles a jetliner with contrail).[2] “Noodle pattern” or “millipede-like structure” (showing numerous burrows) as seen in our case is a characteristic dermoscopy sign of crusted scabies.[3] “Gray-edged line sign” on dermoscopy is a recently described sign where the dark line is often seen on the outer wall of the curved burrow and is supposed to form mainly due to the melanin containing fecal material of the mite, which gets deposited on the outer wall by the tail end of the mite as it crosses the curved burrow.[4] “Wake sign” is described as a pattern of scale reminiscent of the “wake” left on the water surface by a moving object.[5] All the dermoscopic signs were seen in our case. Thus dermoscopy is an extremely useful, rapid, and noninvasive in vivo tool for the diagnosis of crusted scabies. This case is interesting as the dermoscopic signs of noodle pattern and gray-edged line sign have not been previously described in Indian patients. Declaration of patients consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Spectrum of high-resolution computed tomography pattern in lungs in patients with connective tissue disorders.

Connective tissue disease associated with interstitial lung disease, or CT-ILD, is a lung condition that affects a large number of patients with a connective tissue disease. Our aim in this study is to correlation between images of high-resolution computed tomography (HRCT) of different connective tissue diseases associated interstitial lung diseases (CTD-ILDs). We shall be aiming to investigate the feasibility of HRCT imaging and thereby avoid lung biopsy in such patients. Rheumatoid arthritis predominantly presented with usual interstitial pneumonia (UIP) (47.8%), followed by nonspecific interstitial pneumonia (NSIP) (30.4%). Mixed connective tissue disorder predominantly presented with NSIP and UIP (42.8%), followed by organizing pneumonia (OP) (14.2%). Systemic lupus erythematosus predominantly presented with UIP (38.8%), followed by NSIP (27.7%). Sjogren's syndrome predominantly presented with lymphocytic interstitial pneumonia (40%), followed by UIP (26.6%). Scleroderma predominantly presented with UIP (45.4%), followed by NSIP (36.4%). Sarcoidosis predominantly presented with UIP (75%), followed by NSIP (25%). Dermatomyositis predominantly presented with NSIP (50%), followed by UIP and OP each (25%). Both clinicians and radiologists should be aware of the expected evolution of HRCT changes in a variety of CT-ILDs.

Severe Raynaud in a young female with Mixed Connective Tissue Disorder (MCTD)

Raynaud phenomenon is clinically manifested by sharply demarcated colour changes of the skin of the digits due to abnormal vasoconstriction of digital arteries and cutaneous arterioles. Raynaud can be primary or secondary. Here we present a young female patient who presented with Raynaud, inflammatory type of small joint pain and proximal muscle weakness. She was diagnosed to have mixed connective tissue disease after extensive evaluation.

CLINICAL SPECTRUM AND IMMUNOLOGICAL PROFILE OF PATIENTS WITH MIXED CONNECTIVE TISSUE DISEASE PRESENTING IN A TERTIARY CARE HOSPITAL

This study investigated the clinical spectrum and immunological profile of mixed connective tissue disease (MCTD) patients in a tertiary care hospital in Pakistan. This study was conducted in the Department of Rheumatology at Fatima Memorial Hospital in Lahore for six months from March to August 2021. A clinical diagnosis was made based on the Kasukawa criteria. In this study, 45 patients who fulfilled the MCTD criteria were enrolled. Their clinical presentation and laboratory findings were studied, and disease characteristics and demographics were recorded using a self-designed proforma. The analysis of the collected data was done using SPSS version 25.0. Of 45 patients, 42 were females, and 3 were males, with a mean age of 33. The most common clinical features studied were Raynaud phenomenon (found in 36 (80%) patients), sclerodactyly (in 12 (26.7%) patients), digital ulcers (in 12 (26.7%) patients), puffy hands (in 14 (31.1%) patients), skin tightness (in 21 (46.7%) patients), oral ulcers (in 8 (29.6%) patients), rash over face (in 13(28.9%) patients), rash over other areas than face (in 16 (35.6%) patients), calcinosis (in 2(4.4%) patients), diffuse hair loss (in 10(37%) patients), arthritis (in 21(46.7%) patients), proximal muscle weakness (in 9 (20%) patients), dryness of eyes and mouth (in 13 (48.1%) patients), and esophageal dysmotility (in 9 (20%) patients). Pulmonary HTN was found in 5(11.1%) patients, ILD with NSIP pattern in 7(13.7%) patients, and UIP pattern on HRCT chest was found in 2(4.4%) patients. Several antibodies were found in patients, including U1RNP in 24(53.3%) patients, ANA in 33(73.3%) patients, AntiScl 70 in 9(20%) patients, Anti-centromere in 2(4.4%) patients, Anti jo1 in 1(3.7%) patient, Anti-dsDNA in 14(31.1%) patients, LAC in 1(3.7%) patient, ACL in 1(3.7%) patient, Anti Ro in 14 (31.1%) patients, and Anti La in 2 (7.4%) patients. S/CPK was raised in 10(22.2%) patients. MCTD is an immune-mediated disorder affecting multiple systemic organs with shared features of three autoimmune disorders: scleroderma, systemic lupus erythematosus (SLE), and polymyositis. Sometimes, it can convert to a full autoimmune rheumatological condition, so if it is treated early, future complications can be prevented. Autoimmune rheumatological condition, so if it is treated early, future complications can be prevented.

A Case of Mixed Connective Tissue Disorder in a Young Female

We present a case of Mixed connective tissue disorder presented in our institute. Mixed connective tissue disease (MCTD), a rare entity in rheumatology.

Population-based prevalence and incidence estimates of mixed connective tissue disease from the Manhattan Lupus Surveillance Program.

Epidemiological data for MCTD are limited. Leveraging data from the Manhattan Lupus Surveillance Program (MLSP), a racially/ethnically diverse population-based registry of cases with SLE and related diseases including MCTD, we provide estimates of the prevalence and incidence of MCTD. MLSP cases were identified from rheumatologists, hospitals and population databases using a variety of International Classification of Diseases, Ninth Revision codes. MCTD was defined as one of the following: fulfilment of our modified Alarcon-Segovia and Kahn criteria, which required a positive RNP antibody and the presence of synovitis, myositis and RP; a diagnosis of MCTD and no other diagnosis of another CTD; and a diagnosis of MCTD regardless of another CTD diagnosis. Overall, 258 (7.7%) cases met a definition of MCTD. Using our modified Alarcon-Segovia and Kahn criteria for MCTD, the age-adjusted prevalence was 1.28 (95% CI 0.72, 2.09) per 100 000. Using our definition of a diagnosis of MCTD and no other diagnosis of another CTD yielded an age-adjusted prevalence and incidence of MCTD of 2.98 (95% CI 2.10, 4.11) per 100 000 and 0.39 (95% CI 0.22, 0.64) per 100 000, respectively. The age-adjusted prevalence and incidence were highest using a diagnosis of MCTD regardless of other CTD diagnoses and were 16.22 (95% CI 14.00, 18.43) per 100 000 and 1.90 (95% CI 1.49, 2.39) per 100 000, respectively. The MLSP provided estimates for the prevalence and incidence of MCTD in a diverse population. The variation in estimates using different case definitions is reflective of the challenge of defining MCTD in epidemiologic studies.

Delphi-Based Consensus on Interstitial Lung Disease Screening in Patients with Connective Tissue Diseases (Croatian National-Based Study).

The aim of this study was to develop a Croatian Delphi-based expert consensus for screening interstitial lung disease (ILD) associated with connective tissue disease (CTD). A systematic literature review was conducted on risk factors for the development of ILD, prevalence and incidence of ILD, diagnostic and screening methods for ILD, and prognosis of ILD in idiopathic inflammatory myopathy (IIM), mixed connective tissue disease (MCTD), primary Sjögren's syndrome (pSS), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) were performed. Based on the evidence found, experts developed questionnaires for screening and monitoring ILD in each CTD, which were provided via an online survey. Following the electronic survey, two screening algorithms were developed based on the consensus opinions. The detection strategy for ILD included high-resolution computed tomography (HRCT) in addition to pulmonary function testing for IIM, MCTD, and SSc. and pulmonary function testing for newly diagnosed pSS, RA and SLE. However, in patients with identified risk factors for ILD HRCT, these tests should also be performed. A screening strategy for early identification of patients with various CTD-ILD was first developed by a multidisciplinary team of rheumatologists, pulmonologists, and radiologists to identify early CTD patients at risk of ILD, a severe extra-articular manifestation of CTD.

Complicated Neurotrophic Corneal Ulcer in a Patient with Multiple Autoimmune Disorders

Neurotrophic keratitis is a rare degenerative corneal disease caused by impairment of trigeminal nerve innervation. This can lead to profound vision loss from corneal epithelial breakdown, ulceration, and in severe cases, perforation. This case report describes a 60-year-old male patient with multiple autoimmune diseases including Sjogren’s syndrome, Raynaud’s disorder, mixed connective tissue disorder, and Graves’ disease who presented with a complaint of blurred vision in his left eye due to a corneal ulcer. A careful analysis of the patient’s case history was crucial to arriving at the final diagnosis of a neurotrophic corneal ulcer. Although treated aggressively with topical antibiotics, artificial tears, and vitamin C, the corneal ulcer perforated 10 days later. Optometrists who choose to manage neurotrophic keratitis should be familiar with the potential complications and know when referral is needed. CE Notification This article is available as a COPE accredited CE course. You may take this course for 1-hour credit. Read the article and take the qualifying test to earn your credit. Click here to Enroll (https://www.crojournal.com/complicated-neurotrophic-corneal-ulcer-in-a-patient-with-multiple-autoimmune-disorders) Please check COPE course expiry date prior to enrollment. The COPE course test must be taken before the course expiry date.

ANA-specific antibodies, ANA patterns, anti-ds-DNA results, and clinical diagnosis: a laboratory and clinical audit.

The diagnosis of systemic autoimmune diseases (SAID) is challenging, due to overlapping features with other non-immune disorders. Anti-nuclear antibodies (ANA)/anti-cellular antibodies are the sensitive screening tests but anti-double-stranded-deoxyribonucleic acid-antibody (anti-ds-DNA) and ANA-specific antibodies are specific for SAID. We aimed to look at ANA-specific antibodies in our patients and correlated them with ANA patterns, anti-ds-DNA, and clinical diagnosis for proper interpretation and better patient management cost-effectively. A retrospective data analysis of 641 patients was done (1st of February 2019 to 31st of July 2021) who were tested for ANA-specific antibodies at the Immunology Department of Indus Hospital and Health Network. ANA and anti-ds-DNA results and clinical diagnosis were also analyzed for ANA-specific antibody-positive patients. Descriptive data were presented in mean ± standard deviation and frequency percentages whereas inferential data were analyzed with a chi-square test for association between ANA-specific antibodies status, ANA, anti-ds-DNA, and clinical features. ANA-specific antibodies test revealed positivity for at least one autoantibody in 245 (38.2%) patients. Of these, ANA was tested in 206 patients reactive for ANA-specific antibodies and found positive in 195 (95%) as compared to negative (< 0.001). Speckled and homogenous were predominant ANA patterns in ANA-specific antibody-positives (56% and 42% respectively). Multiple ANA patterns were found in 18 patients most commonly with systemic lupus erythematosus (SLE) and mixed connective tissue disorder (MCTD). Anti-SSA were the most common ANA-specific antibodies (50%) and were mostly found in sera with speckled (61/97) and homogenous (38/97) patterns and associated mostly with SLE (48%) and Sjogren's syndrome (86%). Among ANA-negative patients, anti-SSA were the most common antibodies (n = 5). Anti-ds-DNA was found in 66% of SLE patients along with another ANA-specific antibody. This study showed that testing for ANA-specific antibodies cannot be gated on ANA patterns. Also, there is a redundancy of these antibodies with various clinical diagnoses. Moreover, they are useful in making a diagnosis in ANA-negative patients as well with clinical suspicion.