Connective Tissue Disease Syndrome Research Articles

Antinuclear antibody (ANA) positivity pattern by line immunoassay in a hospital from eastern India: Update from a laboratory perspective.

The existence of more than one antibody in systemic autoimmune rheumatic diseases (SARDs) or connective tissue disease (CTD) along with features of more than one autoimmune disease (AD) in an individual is suggestive of overlap syndrome (OS). Line immunoassay (LIA) can target many autoantibodies in a single approach, thus making the identification of OS feasible. This study aimed to identify the pattern of distribution of antinuclear antibodies by LIA prevalent in a hospital population in eastern India and identify common forms of SARD in this belt based on laboratory findings. A total of 1660 samples received for ANA profile testing by LIA were analysed. Factor analysis was performed with factor loading scores used in the k-means algorithm to identify clustering of various autoantibodies. U1-snRNP positivity was the highest at 16.69%, and the least frequent autoantibody noted was anti-Jo-1 at 0.71% positivity. Based on the outcome of factor analysis, three clusters were determined. Cluster 1 showed a predominance of anti-PM/Scl antibodies, cluster 2 showed a predominance of anti-dsDNA, anti-histone, anti-SmD1, anti-nucleosomes, anti-PCNA, anti-Po, anti-SSA/Ro52, anti-SSA-Ro60, anti-SSB/La, anti-Scl-70, anti-Mi-2, anti-Ku and anti-AMA-M2, and cluster 3 showed a predominance of anti-U1-snRNP. Mixed connective tissue disease (MCTD) and overlap syndrome (OS) are prevalent more than pure form of an AD in our study population. OS may be missed out by monospecific immunoassays and hence adds to diagnostic challenges. LIA may be more useful in identifying specific autoantibodies by a single approach rather than monospecific immunoassays in populations after a positive screen by indirect immunofluorescence (IIF).

Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease

Objectives. We present a very rare case of incomplete Graham-Little-Piccardi-Lassueur syndrome (GLPLS) overlap with Mixed Connective Tissue Disease (MCTD) versus Multiple Autoimmune Syndrome (MAS). Case Presentation. A 53- year-old female with a long history of more than two years of patchy hair loss on scalp like “footprints in the snow”, partial loss of eyebrows' hair, face erythema, scaly atrophied red/brown patches on face, grouped follicular papules 2-3 mm in diameter with a pointed or hair-like horny spine extending approximately 1-2 mm around the tip of the follicle on lumbar area. The histopathological results from biopsies of scalp and lumbar areas confirmed the clinical diagnosis of cicatricial alopecia induced by lichen plan pilaris (LPP) and also presence of lichen spinulosus (LS) on lumbar area. The description provided by pathologist is however borderline regarding so called interface dermatosis like chronic cutaneous lupus erythematous (CCLE) or Pseudopelade of Brocq (PPB) as the end stage of CCLE or LPP. Blood tests showed both Antinuclear antibodies and U1-nRNP in high titers and the absence of anti-Sm, anti SS-A, anti SS-B and anti-dsDNA antibodies, and also peculiar antibody patterns of MCTD. Outcome. After thorough investigation, MCTD was proven by antibodies results. After one year of treatment a lot of clinical features dramatically responded under therapy. Conclusions. Clinical manifestations in the pathology with strictly cutaneous or systemic localization in conjunction or overlap with other autoimmune diseases (grouped in the MAS) represent a rare diagnostic in daily practice.

Comparison of Genes Associated with Thoracic and Abdominal Aortic Aneurysms.

Aneurysms impacting the ascending thoracic aorta and the abdominal aorta affect patient populations with distinct clinical characteristics. Through a literature review, this paper compares the genetic associations of ascending thoracic aortic aneurysm (ATAA) with abdominal aortic aneurysms (AAA). Genes related to atherosclerosis, lipid metabolism, and tumor development are associated specifically with sporadic AAA, while genes controlling extracellular matrix (ECM) structure, ECM remodeling, and tumor growth factor β function are associated with both AAA and ATAA. Contractile element genes uniquely predispose to ATAA. Aside from known syndromic connective tissue disease and poly-aneurysmal syndromes (Marfan disease, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome), there is only limited genetic overlap between AAA and ATAA. The rapid advances in genotyping and bioinformatics will elucidate further the various pathways associated with the development of aneurysms affecting various parts of the aorta.

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.

A Comparative Study of Mixed Connective Tissue Disease and Overlap Syndromes – A Single-Center Study from India

Introduction: Mixed connective tissue disease (MCTD) a classical overlap syndrome with four different defining criteria. The present study attempts to compare the clinical features and autoantibodies for MCTD and overlap syndromes. Methods: In this observational study from October 2018 to August 2020, we included all the patients of MCTD and overlap syndromes. Alarcon–Segovia criteria was used as defining criteria for MCTD patients while the patients meeting diagnostic criteria for more than 1 of 6 classical autoimmune rheumatic diseases were selected in the overlap syndromes group. We compared their clinical features, laboratory parameters, and autoantibody profiles. MS Excel, STATA were used for statistical analysis, and comparison between the groups was done with t-test, Chi-square test, and Wilcoxon rank sum test. P &lt; 0.05 was considered as statistically significant. Results: The study consisted of 60 consecutive patients (MCTD, n = 30 and overlap syndromes, n = 30) with higher female population in both groups (90% in MCTD and 84% in the overlap syndromes group) compared to males. The incidence of fever (83.3% vs. 46.6%), weight loss (60% vs. 26.6%), trigeminal neuralgia (76.6% vs. 13.3%), and myositis (63.3% vs. 20.0%) was significantly higher in MCTD than overlap syndromes whereas the incidence of cough (66.6% vs. 90.0%) and dry mouth (20.0% vs. 53.3%) was higher in overlap syndromes than MCTD (P &lt; 0.05). Anti-U1 RNP antibodies were seen in all MCTD (100.0%) patients while anti-Scl 70 antibodies (60%) and anti-ribosomal-p-protein antibodies (13.3%) were seen in overlap syndromes. Conclusion: Fever and weight loss, trigeminal neuralgia, and myositis were more common in MCTD than overlap syndromes. Anti-U1 RNP antibodies seen in MCTD while Anti-Scl 70 antibodies and anti-ribosomal-P antibodies were commonly were seen in overlap syndromes.

Cutaneous manifestations of systemic lupus erythematosus: experience from a tertiary care hospital of Bangladesh

Background: Systemic lupus erythematosus (SLE) is a chronic, multisystem disorder that can affect any organ of the body. Approximately 80 percent of patients develop skin disease at some point in their disease course. The association with SLE varies among the subtypes of cutaneous lupus erythematosus (LE). Better understanding of cutaneous manifestations can help in more effective management. This study aimed to evaluate the pattern of cutaneous manifestations of SLE and to find out association with organ involvement. Methods: This cross-sectional observational study was conducted in the Green Life Medical College Hospital from January 2019 to December 2020. Sixty four lupus patients who fulfilled the SLICC 2012 classification criteria and having new onset or preexisting skin complaints were enrolled. Mixed connective tissue disease and other overlap syndromes were excluded. All patients were evaluated by a dermatologist and diagnosis was done as per modified Gilliam Classification criteria. Results: Out of 64 patients, 56 were female and 8 were male. Female and male ratio was 7:1. Mean age was 28.4±9.6 years. Among the cutaneous manifestations, LE specific was 38 (59.4%), LE non-specific was 41 (64.1%). Among LE specific, 66% were acute (ACLE), 42% were sub-acute (SCLE) and 37% patients were chronic (CCLE). Among ACLE, 72% had malar rash and 84% had photosensitivity. Among SCLE, most common was papulosqumous (68%). DLE (86%) was the most common CCLE. Among LE non-specific, 85% had non-scarring alopecia, 52% had vascular abnormalities. Most common organ involvement was musculoskeletal (84%), then renal (56%). DLE had negative association with renal involvement [OR (-0.04)]. No other cutaneous manifestations showed any significant association with any other organ involvement. Conclusion: Cutaneous manifestations are important feature in SLE. LE non-specific was more common than LE specific manifestations in this study. Better understanding can help in efficient diagnosis and management. BIRDEM Med J 2022; 12(1): 57-61

Mixed Connective Tissue Disease (MCTD) or SHARP Syndrome: A Case Report with Review of the Literature

Mixed Connective Tissue Disease or SHARP Syndrome was originally described by Gordon. C. Sharp as a syndrome combining clinical signs of rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), scleroderma, polymyositis/dermatomyositis (PM/DM), associated with an elevated level of ribonuclease-sensitive antinuclear antibodies. These antibodies were later defined as anti-U1-RNP antibodies. In routine practice, the clinical and immunological distinction between mixed and overlapping connectivitis or a particular form of differentiated connectivitis is sometimes difficult and has little therapeutic consequence. Nevertheless, this can be an ease of approach for the therapist and an ease of understanding for the patient. We report a case of Sharp's syndrome diagnosed in a 37-year-old female patient at the CHU Aristide LeDantec in Dakar, Senegal.

Pulmonary Arterial Hypertension in a Patient with Connective Tissue Disease and ALCAPA Syndrome

Pulmonary Arterial Hypertension in a Patient with Connective Tissue Disease and ALCAPA Syndrome

Lung Cancer Survival in Patients With Autoimmune Disease

Patients with autoimmune disease and lung cancer pose a multidisciplinary treatment challenge, particularly with the advent of immunotherapy. However, the association between autoimmune disease and lung cancer survival is largely unknown. To determine the association between autoimmune disease and lung cancer survival. Retrospective cohort study between 2003 and 2019 at a single academic medical center (Northwestern University). A query of the Northwestern Medicine Enterprise Data Warehouse identified 349 patients with lung cancer and several autoimmune diseases. Types of lung cancers included small cell, adenocarcinoma, squamous cell carcinoma, non-small cell not otherwise specified, and large cell carcinoma. Autoimmune diseases included rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, mixed connective tissue disease, myositis, and Sjögren syndrome. Inclusion criteria were biopsy-confirmed lung cancer, autoimmune diagnosis confirmed by a rheumatologist, and death or an encounter listed in the electronic medical record within 2 years of study end. A control group of patients with biopsy-proven lung cancer but without autoimmune disease was identified. Data analysis was conducted from March to July 2020. Presence of autoimmune disease. Overall survival and progression-free survival in patients with autoimmune disease. The hypothesis was that patients with autoimmune disease would have worse progression-free survival and overall survival compared with patients in the control group. Of the original 349 patients, 177 met inclusion criteria. Mean (SD) age at lung cancer diagnosis was 67.0 (10.0) years and 136 (76.8%) were women. Most common autoimmune diseases were rheumatoid arthritis (97 [54.8%]), systemic sclerosis (43 [24.3%]), and systemic lupus erythematous (15 [8.5%]). Most common lung cancers were adenocarcinoma (99 [55.9%]), squamous cell carcinoma (29 [16.4%]), and small cell lung cancer (17 [9.6%]). A total of 219 patients (mean [SD] age at diagnosis, 65.9 [4.1] years; 173 [79.0%]) were identified as having lung cancer without autoimmune disease and included in the control cohort. Compared with patients in the control group, patients with autoimmune disease experienced no difference in overall survival (log-rank P = .69). A total of 126 patients (69.5%) with autoimmune disease received standard of care vs 213 patients (97.3%) in the control group (P < .001). No individual autoimmune disease was associated with worse prognosis, even among patients with underlying interstitial lung disease. Compared with institutional controls, patients with autoimmune disease experienced no difference in survival despite the fact that fewer patients in this group received standard-of-care treatment. No individual autoimmune disease was associated with worse prognosis. Future multicenter prospective trials are needed to further evaluate autoimmune disease and lung cancer survival.

Clinical perspective and practices on pleural effusions in chronic systemic inflammatory diseases.

Systemic inflammatory diseases are a heterogeneous family of autoimmune chronic inflammatory disorders that affect multiple systems within the human body. Connective tissue disease (CTD) is a large group within this family characterised by immune-mediated inflammation of the connective tissue. This group of disorders are often associated with pleural manifestations. CTD-induced pleuritis exhibits a wide variety of symptoms and signs including exudative pleural effusions and chest pain. Accurate estimation of prevalence for CTD-related pleuritis is challenging as small effusions are asymptomatic and remain undetected. Rheumatoid arthritis and systemic lupus erythematosus are frequent CTDs and present with pleural pathology in approximately 5–20% and 17–60% of cases, respectively. By contrast, pleural involvement in systemic sclerosis, eosinophilia–myalgia syndrome, mixed connective tissue disease, ankylosing spondylitis, polymyositis and dermatomyositis syndrome is rare. Clinical management depends on the severity of symptoms; however, most effusions resolve spontaneously. In this review we discuss the pathophysiological mechanisms and the clinical considerations of CTD-induced pleuritis.

Mixed connective tissue disease, undifferentiated connective tissue disease and overlap syndromes

Systemic lupus erythematosus, systemic sclerosis, inflammatory myopathy and rheumatoid arthritis are systemic connective tissue disorders which are characterized by heterogeneous clinical symptoms and variable course. To date, updated diagnostic criteria for early diagnosis of each of the diseases of this group have been proposed. At the same time, a proportion of patients already have at the onset of the disease or over time, a combination of signs characteristic of different diseases. Such conditions are referred to as mixed connective tissue disease, undifferentiated connective tissue disease or overlap-syndrome, whose nosological identity remains the subject of discussion. Formerly there has been a kind of terminological confusion and similar conditions were described under different names, depending on the author's preferences. It was also believed that these conditions were an early stage or a clinically "incomplete" form of a connective tissue disease. However, as the observations of large patient groups have shown, whose disease was represented by a number of individual signs of several connective tissue diseases, the clinical manifestation remains unchanged for many years in the majority of them. To recognize the right for nosological independence, one should account for the fact that only for a mixed connective tissue disease various authors and research groups have proposed four variants of diagnostic criteria. These criteria have small differences in the number of clinical signs; however, all criteria include a mandatory sign, i.e. the presence of antibodies to U1-ribonucleoprotein in high titers. Clinical signs common to all these diagnostic criteria include the Raynaud's syndrome, arthritis, myositis and finger swelling or sclerodactyly. Another patient category includes those with mono- or oligosymptomatic manifestations characteristic of systemic connective tissue diseases, but without any specific immunological markers. Some of these patients in a fairly short time, usually from several months to 1–2 years, develop other clinical symptoms and signs corresponding to a reliable diagnosis of a connective tissue disease. At the same time, a significant part of patients with the oligosymptomatic course demonstrate a long-term stability without any further evolution of the disease. Such cases are defined as an undifferentiated connective tissue disease. To avoid the erroneous diagnosis of the transient form or an early stage of any connective tissue disease, the proposed classification criteria, along with the inclusion criteria, also embrace clinical and serological exclusion criteria. A separate category consists of patients with a combination of clinical signs sufficient for a definitive diagnosis of at least two systemic connective tissue diseases. These patients are diagnosed with the overlap-syndrome with indication of the components of connective tissue diseases in each individual case, as it largely determines the individual treatment and prognosis. The possibility of such clinical variants of systemic connective tissue diseases is becoming increasingly justified due to the concept of polyautoimmunity, which has attracted great interest of researchers in the last few years.

Nailfold capillaroscopy and autoimmune connective tissue diseases in patients from a Portuguese nailfold capillaroscopy clinic.

Raynaud's phenomenon (RP) is frequent in autoimmune connective tissue diseases (AICTD) and its approach includes nailfold capillaroscopy (NFC), as it is a non-invasive technique that permits direct visualization of the microcirculation. The aim of this study is to analyze and establish clinical correlations between NFC findings and particular aspects of autoimmune disorders. This is a retrospective study. Clinical data from patients attending our NFC clinic were reviewed. Inclusion criteria included AICTD previous diagnosis, which included systemic sclerosis (SSc), mixed connective tissue disease (MCTD), systemic lupus erythematosus (SLE), Sjögren syndrome, inflammatory idiopathic myopathies (IIM), rheumatoid arthritis, undifferentiated connective tissue disease and antiphospholipid syndrome (APS). Videocap® version 3.0 biomicroscope was used. NFC score was determined. For statistics, SPSS software was utilized. 384 patients were included; most of them were women, with mean age of 47years. RP was present in 91% of the patients, with greater prevalence in SSc and MCTD. Scleroderma pattern was the most prevalent NFC pattern, mainly in SSc, MCTD and IIM. Mean capillary density was reduced in IIM, SSc and MCTD. NFC score was worse in SSc, IIM and MCTD. In patients with AICTD, RP is related to microvascular damage and worse NFC score. NFC scleroderma pattern correlates with SSc classification criteria score. In MCTD, scleroderma pattern relates to myositis. SLE and APS reveal significant hemorrhages, but not related to APS antibodies. This study highlights the possible role of NFC as biomarker of AICTD, particularly in SSc and IIM.

Systemic lupus erythematosus and overlap: A clinician perspective

Autoimmune inflammatory rheumatic diseases, also termed as autoimmune collagen vascular diseases, as the name suggests are the group of illness arising from a combination of loss of tolerance to self-antigens and shifting of the immune system into self-destructive overdrive. These are commonly classified under six mutually exclusive diseases which include systemic lupus erythematosus (SLE), systemic sclerosis (SSc), dermatomyositis, polymyositis, rheumatoid arthritis (RA), and primary Sjogren syndrome, the so-called definitive connective tissue diseases. Undifferentiated and mixed connective tissue disease and overlap syndrome have also been added to the classification. An initially undifferentiated connective tissue disease may later evolve into a differentiated connective tissue disease. Here, we define the various connective tissue diseases and elaborate more upon SLE and its overlap, including the overlap of RA (RHUPUS).

Клинические и генетические параллели дисплазии соединительной ткани, пролапса гениталий и синдрома гипермобильности суставов

Клинические и генетические параллели дисплазии соединительной ткани, пролапса гениталий и синдрома гипермобильности суставов

Lymphocytic thrombophilic arteritis: A distinct inflammatory type I interferon and C5b-9 mediated subcutaneous endovasculitis.

Lymphocytic thrombophilic arteritis is a recently recognized subcuticular larger vessel vasculitis characterized by striking vascular luminal thrombosis. The clinical features, histopathology and phenotypic profile of ten patients with lymphocytic thrombophilic arteritis were explored in an attempt to better define the entity from a clinical and pathophysiologic perspective. The patients were all female (mean age of 43) presenting with generally asymptomatic lower and upper extremity hyperpigmented macules. A consistent picture diagnostic of a connective tissue disease syndrome was not seen. The disease was not progressive although it was typically persistent. The morphology was characterized by a temporally heterogeneous subcutaneous arteritis targeting the endothelium and intima with changes ranging from incipient intimal expansion by hyaluronic acid to concentric intimal fibrin deposition to one of an end stage acellular intraluminal obliterative fibrous arteriopathy. The infiltrate was predominated by lymphocytes and histiocytes. The intimal elastic lamina was intact in most cases. All tested cases showed intimal and endothelial C5b-9 deposition, an upregulated type I interferon microenvironment and marked upregulation of the inducible interferon gamma 16 protein. Lymphocytic thrombophilic arteritis is a unique form of C5b-9 mediated arteritic endotheliopathy where the brunt of the changes involves the endothelium and intima and that is morphologically distinct from the transmural arteritis of benign cutaneous polyarteritis nodosa.

Tocilizumab in the treatment of mixed connective tissue disease and overlap syndrome in children.

Arthritis is one of the main manifestations of mixed connective tissue disease (MCTD) and overlap syndrome in children and can be responsible for functional disability. We report on 2 children with arthritis that were dramatically improved by a treatment with interleukin-6 (IL-6) blockers in the context of connective tissue disease. However, in both cases, other systemic autoimmune symptoms were not modified by the treatment and autoantibodies tend to increase, suggesting a differential effect of IL-6 inhibition on articular inflammation and systemic autoimmunity.

Manifestaciones gastrointestinales de las enfermedades sistémicas y cutáneas

IntroductionThe gastrointestinal tract is frequently affected in many systemic diseases are as rheumatic and collagen diseases, vasculitis, neoplasms, infiltrative diseases and skin diseases. Sometimes the symptoms resulting from this involvement gut is leading to the patient's doctor leads to the disease is diagnosed. CollagenosisRheumatoid arthritis, scleroderma, systemic lupus erythematosus, mixed connective tissue disease, dermatomyositis and Sjogren's syndrome, may have gastrointestinal manifestations. VasculitisPolyarteritis nodosa, Churg-Strauss syndrome, Schönlein-Henoch, malignant atrophic papulosis or Kohlmeier-Degos, Wegener granulomatosis, and Behcet's syndrome, vasculitis syndrome are gastrointestinal manifestations. Dermatological diseasesThe main skin diseases with gastrointestinal manifestations are: Blue-rubber-bleb nevus-of Rendu-Osler-Weber syndrome Klipel-Trenaunay-Weber, bullous pemphigoid and pemphigus, toxic epidermal necrolysis syndrome and disease Stevens-Johnson syndrome and lichen planus. NeoplasmsThe digestive tract can be affected by metastatic lesions of tumors from other organs. The origin It can be by direct invasion from neighboring organs, intraperitoneal seeding or hematogenous spread or lymphatic. Infiltrative diseasesMastocytosis and systemic amyloidosis may have digestive expression Mastocytosis and systemic amyloidosis may have digestive expression.

Pulmonary infections following immunosuppressive treatments during hospitalization worsen the short-term vital prognosis for patients with connective tissue disease-associated interstitial pneumonia

Objective. Connective tissue disease-associated interstitial pneumonia (CTD-IP) significantly affects the mortality of patients with CTD. The purpose of the present study is to identify causes and risk factors for death during hospitalization for immunosuppressive treatment of CTD-IP.Methods. A multicenter, retrospective study was conducted that collected data from patients with CTD who had been hospitalized for commencing or intensifying immunosuppressive treatment of CTD-IP using a standardized case report form. Risk factors were identified using the Cox proportional hazard regression model.Results. A total of 322 CTD-IP patients were enrolled with rheumatoid arthritis (n = 84), systemic lupus erythematosus (n = 13), polymyositis (n = 33), dermatomyositis (n = 69), systemic sclerosis (n = 55), mixed connective tissue disease (n = 21), microscopic polyangiitis (n = 19), and overlap syndrome (n = 28). Of the 42patients who died during hospitalization, 22 died from CTD-IP, 15 from CTD-IP and pulmonary infection, 2 from pulmonary infection, and 3 from other causes. Age ≥ 65 years and development of pulmonary infections after commencing or intensifying immunosuppressive treatments were identified as risk factors for death during hospitalization after adjusting for covariates.Conclusion. Careful consideration of the benefit–risk balance of immunosuppressive treatment for CTD-IP is indispensable for improving the short-term vital prognosis of these patients.

Zebras Do Exist: Churg-Strauss with GI Involvement

Purpose: A 57-year-old woman with recent diagnosis of asthma was admitted with progressive, diffuse abdominal pain for several weeks. The patient also reported non-bloody diarrhea, nausea without emesis, and early satiety. She denied fevers, recent travel, and family history of inflammatory bowel disease (IBD). On physical examination, vital signs were normal and abdominal exam was notable for mild diffuse tenderness to palpation. Admission labs revealed a white blood cell count of 20K with 56% eosinophils. Given diarrhea, abdominal pain, and eosinophilia, diagnosis of IBD was felt to be most likely with other considerations being parasitic infection, allergic reaction, connective tissue disease, neoplasm, and hypereosinophilic syndrome. Stool studies were negative for parasites. ESR and CRP were significantly elevated. CT abdomen showed wall thickening of the distal duodenum and jejunum again suggesting possible small bowel IBD. EGD was performed and was endoscopically normal to the duodenum with random biopsies showing no significant pathology. While admitted, the patient developed dyspnea with intermittent hypoxia; chest x-ray was performed and showed new pulmonary infiltrates. The patient continued to have persistent abdominal symptoms therefore endoscopy was repeated and this time revealed scattered duodenal and jejunal erosions/small ulcers and gastric erythema. Biopsies obtained from the stomach revealed eosinophilic vasculitis with thrombosis involving the small lamina propria blood vessels. The diagnosis of Churg-Strauss was confirmed with additional testing and the patient was treated with high-dose corticosteroids with resolution of all abdominal symptoms. This case illustrates several learning points including the importance of evaluating a broad differential diagnosis. IBD is a much more common cause of abdominal pain and diarrhea than gastrointestinal vasculitis, however, based on the clinical setting, even “zebras” must be considered. Our patient had a diagnosis of asthma in lateadulthood, significant peripheral eosinophilia, varying pulmonary complaints, and transient pulmonary infiltrates, all of which are consistent with Churg-Strauss. The case also emphasizes the need for repeat endoscopy with biopsy in cases that remain enigmatic as initial biopsies can be non-diagnostic due to sampling variation or inadequate depth. In our case, only after repeat biopsies could a final diagnosis be made and appropriate treatment initiated.

Editorial Coarctation of the aorta

Editorial Coarctation of the aorta