Case Reports in Rheumatology The latest articles from Hindawi © 2018 , Hindawi Limited . All rights reserved. Efficacy of Cyclosporine in the Induction and Maintenance of Remission in a Systemic Lupus Erythematosus Patient Presenting with Macrophage-Activating Syndrome Mon, 15 Jan 2018 00:00:00 +0000 Macrophage-activating syndrome (MAS) is a rare condition characterized by dysfunctional macrophage activation leading to overproduction of cytokines and phagocytosis of erythrocytes, leukocytes, and platelets. MAS is associated with infectious diseases, malignancies, and autoimmune rheumatic disorders. Herein, we present a 22-year-old Hispanic woman with SLE who was hospitalized because of a three-week history of fever, fatigue, polyarthralgia, nausea, and abdominal pain. Initial laboratories showed severe pancytopenia with marked elevation of liver enzymes and ferritin levels. Bone marrow biopsy revealed macrophages with engulfed erythrocytes consistent with MAS. The patient was treated with high-dose corticosteroids, intravenous immunoglobulins, and cyclosporine 3 mg/kg/day. She had a remarkable clinical response to this therapy. She was continued on cyclosporine, and prednisone dose was gradually decreased to 7.5 mg daily without experiencing recurrent disease. She remained in full clinical remission for 12 months. Our case, together with other reports, suggests that combination therapy with corticosteroids, immunoglobulins, and cyclosporine appears to be effective for patients with SLE-associated MAS. Furthermore, cyclosporine seems to be a good drug for maintenance of remission. Franchesca Cruz-Pérez, Salvador Vilá, Grissel Ríos, and Luis M. Vilá Copyright © 2018 Franchesca Cruz-Pérez et al. All rights reserved. Thoracic Paravertebral Mass as an Infrequent Manifestation of IgG4-Related Disease Thu, 28 Dec 2017 00:00:00 +0000 Case. A 50-year-old African American male presented with abdominal pain and significant weight loss. On physical examination, he had parotid and submandibular gland enlargement associated with right eye proptosis. Computed tomography showed a thoracic paravertebral soft tissue mass, enlarged lymph nodes, and ascending aortic aneurysm. Laboratory results were remarkable for elevated total IgG and IgG4 subclass. The submandibular gland pathology revealed chronic sclerosing sialadenitis, with a large subset of inflammatory cells positively staining for IgG4. The histology of the paravertebral mass demonstrated fibrosclerosis with increased lymphocytic infiltrate, associated with increased IgG4 plasma cells. He was diagnosed with immunoglobulin G4-related disease (IgG4-RD). Steroid therapy initially yielded improvement; however, after steroids were stopped, there was disease recurrence. Prednisone was restarted, and the plan was to start him on rituximab. Interestingly, the patient’s brother also had IgG4-RD. Conclusion. IgG4-RD can present as a paravertebral mass which is usually responsive to steroids; however, recurrent and resistant disease can be seen for which steroid-sparing agents such as rituximab should be considered. In addition, to the best of our knowledge, this is the first reported case of IgG4-RD in two family members presenting as a paravertebral mass, highlighting an exciting area for more research in the future. Melissa Matzumura Kuan, Bernard Rubin, and Alireza Meysami Copyright © 2017 Melissa Matzumura Kuan et al. All rights reserved. Efficacy of Rituximab in a Systemic Lupus Erythematosus Patient Presenting with Diffuse Alveolar Hemorrhage Wed, 15 Nov 2017 06:04:29 +0000 Diffuse alveolar hemorrhage (DAH) is a life-threatening complication of systemic lupus erythematosus (SLE). Although infrequent, its mortality is very high. While there are no established therapeutic guidelines, DAH has been traditionally managed with high-dose intravenous (IV) corticosteroids, cyclophosphamide, and plasma exchange. The efficacy of alternative therapies such as rituximab has been described only in a few cases. Herein, we report a 25-year-old Hispanic man who presented with acute-onset SLE manifested by polyarthralgia, nephritis, seizures, pancytopenia, severe hypocomplementemia, and elevated anti-dsDNA antibodies. His disease course was complicated by DAH. His condition was refractory to high-dose intravenous (IV) methylprednisolone pulses, IV cyclophosphamide, and plasmapheresis. Given the lack of clinical response, he was started on IV rituximab 375 mg/m2 weekly for a total of four courses. He rapidly improved after the first two doses. Over the next seven months, he did not present recurrent pulmonary symptoms. Follow-up chest computed tomography did not show residual abnormalities. This case, together with other reports, suggests that rituximab is an effective therapeutic option for DAH in SLE. Gabriela Montes-Rivera, Grissel Ríos, and Luis M. Vilá Copyright © 2017 Gabriela Montes-Rivera et al. All rights reserved. Effective Administration of Rituximab in Anti-MDA5 Antibody–Positive Dermatomyositis with Rapidly Progressive Interstitial Lung Disease and Refractory Cutaneous Involvement: A Case Report and Literature Review Tue, 31 Oct 2017 11:22:09 +0000 We describe the case of a 48-year-old man with dermatomyositis (DM) who demonstrated rapidly progressive interstitial lung disease (RP-ILD) and refractory cutaneous involvement together with high levels of anti-melanoma differentiation-associated gene 5 antibody (anti-MDA5-Ab). Even after combination immunosuppressive therapy including a corticosteroid, cyclosporine A, and intravenous cyclophosphamide, his respiratory insufficiency and cutaneous involvement progressively worsened. However, the administration of rituximab (RTX) resulted in clinical remission as well as a visible reduction in anti-MDA5-Ab levels, suggesting that RTX could be a useful remedy in cases refractory to conventional immunosuppressive agents, especially those of RP-ILD related to anti-MDA5-Ab–positive DM. Yuka Ogawa, Dai Kishida, Yasuhiro Shimojima, Koichi Hayashi, and Yoshiki Sekijima Copyright © 2017 Yuka Ogawa et al. All rights reserved. Macrophage Activation Syndrome: A Report of Two Cases and a Literature Review Wed, 25 Oct 2017 00:00:00 +0000 Macrophage activation syndrome (MAS) is a severe, potentially fatal condition that may complicate autoimmune diseases, and it belongs to hemophagocytic lymphohistiocytosis (HLH) disorders. MAS occurs in adults and children. However, it is rare in juvenile systemic lupus erythematosus (jSLE), and it is extremely rare to be the initial presentation of jSLE. Here, we report two patients with juvenile SLE who initially presented with MAS. One of the two patients is 4 years old. This is the youngest reported patient to our knowledge. Asaad Alkoht, Ibrahem Hanafi, and Basheer Khalil Copyright © 2017 Asaad Alkoht et al. All rights reserved. Mycobacterium intracellulare Infection Mimicking Progression of Scleroderma Wed, 27 Sep 2017 00:00:00 +0000 This case report describes a patient with scleroderma who developed Mycobacterium intracellulare infection, which for more than a year mimicked worsening of her connective tissue disorder. The patient was diagnosed with scleroderma based on puffy fingers that developed into sclerodactyly, abnormal nail fold capillaries, interstitial lung disease, Raynaud’s phenomenon, esophageal dysmotility, and positivity for rheumatoid factor and anti-SSA antibodies. She developed massive inflammatory changes of the cutis, the subcutis, and the muscle fasciae of the right leg, that after several failed attempts of immunosuppressive treatments were found to be caused by Mycobacterium intracellulare. While she was receiving high-dose prednisolone, as worsening of her connective tissue disease was suspected to be the cause of the inflammatory changes, she had Listeria monocytogenes meningitis and was hospitalized for several weeks, but she recovered from this without sequelae. After Mycobacterium intracellulare infection was diagnosed, she was treated with clarithromycin and rifampicin. Her skin manifestations, arthralgias, and fatigue improved considerably, and the wounds of the right leg healed, unfortunately with significant scarring. Immunodeficiency testing was unremarkable. In summary, an infection with Mycobacterium intracellulare was mistaken for an unusually severe progression of scleroderma. Simon Krabbe, Merete Engelhart, Sören Thybo, and Søren Jacobsen Copyright © 2017 Simon Krabbe et al. All rights reserved. Successful Treatment of Hemophagocytic Lymphohistiocytosis Associated with Lupus Nephritis by Using Mycophenolate Mofetil Thu, 14 Sep 2017 00:00:00 +0000 An estimated 0.9% to 2.4% of patients with systemic lupus erythematosus (SLE) also have hemophagocytic lymphohistiocytosis (HLH). HLH associated with autoimmune diseases is often refractory to corticosteroid treatment; thus, additional immunosuppressive drugs, such as cyclosporine, cyclophosphamide, or tacrolimus, are required. Here, we describe the case of a 44-year-old Japanese woman who developed HLH associated with lupus nephritis. Initially, her HLH was refractory to treatment with a corticosteroid, tacrolimus, and mizoribine. However, alternative treatment with a corticosteroid, mycophenolate mofetil, and tacrolimus improved both her HLH and lupus nephritis. This case suggests the possibility of mycophenolate mofetil as a key drug for treating HLH associated with SLE. Takashi Nawata, Makoto Kubo, Kosaku Shiragami, Yukinori Nakamura, and Masafumi Yano Copyright © 2017 Takashi Nawata et al. All rights reserved. The Foot That Broke Both Hips: A Case Report and Literature Review of Tumor-Induced Osteomalacia Thu, 14 Sep 2017 00:00:00 +0000 Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by hypophosphatemia and clinical symptoms of osteomalacia. Only discussed as case reports, there is still limited knowledge of this condition as a potentially curable cause of osteomalacia among clinicians and pathologists. In this article, we present a case of tumor-induced osteomalacia in a 59-year-old gentleman followed by an up-to-date review of the existing literature on TIO. Sara Beygi, Alfred Denio, and Tarun S. Sharma Copyright © 2017 Sara Beygi et al. All rights reserved. Sarcoidosis and Systemic Sclerosis: Strange Bedfellows Thu, 24 Aug 2017 00:00:00 +0000 Coexistence of systemic sclerosis and sarcoidosis is rare. Both have predominant lung manifestations, each with distinctive features on computed tomography (CT) of the chest. We present herein a 52-year-old male with limited systemic sclerosis manifested primarily by sclerodactyly and subsequently by shortness of breath. A series of CT scans of the chest were reviewed. Initial CT chest one year prior to sclerodactyly onset revealed bilateral hilar and right paratracheal, prevascular, and subcarinal adenopathy. Five-year follow-up demonstrated thin-walled cysts, mediastinal lymphadenopathy, and nonspecific nodules. Due to progression of dyspnea, follow-up CT chest after one year again demonstrated multiple cysts with peripheral nodularity and subpleural nodules, but no longer with hilar or mediastinal adenopathy. Diagnostic open lung biopsy was significant for noncaseating granulomas suggestive of sarcoidosis. This is the first known case of a patient with systemic sclerosis diagnosed with sarcoidosis through lung biopsy without radiographic evidence of hilar or mediastinal lymphadenopathy at the time of biopsy. A review of cases of concomitant sarcoidosis and systemic sclerosis is discussed, including the pathophysiology of each disease with shared pathways leading to the development of both conditions in one patient. Micah Yu, Vaneet K. Sandhu, Sheila D. Lezcano, Kanwaljeet Maken, Shannon Kirk, and Karina D. Torralba Copyright © 2017 Micah Yu et al. All rights reserved. Hypokalemic Paralysis due to Primary Sjögren Syndrome: Case Report and Review of the Literature Tue, 01 Aug 2017 08:18:09 +0000 Tubulointerstitial nephritis (TIN) is the main renal involvement associated with primary Sjögren syndrome (pSS). TIN can manifest as distal renal tubular acidosis (RTA), nephrogenic diabetes insipidus, proximal tubular dysfunction, and others. We present a 31-year-old female with hypokalemic paralysis due to distal RTA (dRTA). She received symptomatic treatment and hydroxychloroquine with a good response. There is insufficient information on whether to perform a kidney biopsy in these patients or not. The evidence suggests that there is an inflammatory background and therefore a potential serious affection to these patients, such as hypokalemic paralysis. We found 52 cases of hypokalemic paralysis due to dRTA in pSS patients. The majority of those patients were treated only with symptomatic medication. Patients who received corticosteroids had stable evolution even though they did not have another symptomatology. With such heterogeneous information, prospective studies are needed to assess the value of adding corticosteroids as a standardized treatment of this manifestation. A. Garza-Alpirez, A. C. Arana-Guajardo, J. A. Esquivel-Valerio, M. A. Villarreal-Alarcón, and D. A. Galarza-Delgado Copyright © 2017 A. Garza-Alpirez et al. All rights reserved. Granulomatosis with Polyangiitis Presenting as Pyrexia of Unknown Origin, Leukocytosis, and Microangiopathic Haemolytic Anemia Mon, 24 Jul 2017 08:03:16 +0000 A 66-year-old woman presented to the Emergency Department with a florid sepsis-like picture, a two-week history of fever, relative hypotension with end organ ischemia (unexplained liver enzyme and troponin elevations), and nonspecific constitutional symptoms. She was initially found to have a urinary tract infection but, despite appropriate treatment, her fever persisted and her white blood cell count continued to rise. During her hospitalization the patient manifested leukocytosis to 47,000 WBC/μL, ESR 67 mm/hr (normal range 0–42 mm/hr), CRP 17.5 mg/dL (normal range 0.02–1.20 mg/dL), and microangiopathic haemolytic anemia, with declining haemoglobin and haematocrit. An infectious aetiology was not found despite extensive bacteriologic studies and radiographic imaging. The patient progressed to acute kidney injury with “active” urinary sediment and proteinuria. Kidney biopsy results and serological titres of myeloperoxidase positive perinuclear-antineutrophil cytoplasmic antibodies (MPO+ p-ANCA) led to a diagnosis of granulomatosis with polyangiitis. Immunosuppressive treatment with high dose methylprednisolone and rituximab led to resolution of the leukocytosis and return of the haemoglobin and haematocrit values toward normal without further signs of hemolysis. Sima Terebelo and Iona Chen Copyright © 2017 Sima Terebelo and Iona Chen. All rights reserved. NXP-2 Positive Dermatomyositis: A Unique Clinical Presentation Tue, 13 Jun 2017 07:31:21 +0000 Dermatomyositis (DM), a myopathy associated with inflammation and muscle weakness, has historically been difficult to diagnose. Recently, nuclear matrix protein (NXP-2) antibodies have been described as a myositis-specific antibody that may aid in the diagnostic evaluation. We present the case of a 21-year-old, previously healthy, African American male with DM. He presented to our outpatient clinic with periorbital swelling and a rash, for which he was started on prednisone by an ophthalmologist. Towards the end of the prednisone taper, he began to experience muscle weakness, a worsening rash, and dysphagia to solids with a resultant loss of 60 pounds within a month. He was transferred to a tertiary care hospital where he was further evaluated and ultimately diagnosed with dermatomyositis, supported by skin and muscle biopsies, and was found to be positive for NXP-2. He was given intravenous immunoglobulin (IVIG) and high-dose steroids with improvement. Zeeshan Butt, Leeza Patel, Manash K. Das, Christopher A. Mecoli, and Alim Ramji Copyright © 2017 Zeeshan Butt et al. All rights reserved. Improvement of Arterial Wall Lesions in Parallel with Decrease of Plasma Pentraxin-3 Levels in a Patient with Refractory Takayasu Arteritis after Treatment with Tocilizumab Tue, 06 Jun 2017 09:51:18 +0000 A 19-year-old Japanese woman with active Takayasu arteritis despite multiple conventional immunosuppressive therapies with glucocorticoids in combination with intravenous cyclophosphamide, azathioprine, or infliximab with methotrexate and tacrolimus was successfully treated by switching from infliximab to intravenous tocilizumab. Worsening of claudication of the legs and elevated acute phase reactants, including plasma pentraxin-3 levels, were observed during combination therapy with infliximab. Computed tomography demonstrated increased wall thickening with contrast enhancement in the preexisting lesion of the descending aorta and the femoral arteries. After switching from infliximab to tocilizumab, plasma pentraxin-3 levels gradually decreased to the normal range in parallel with the improvement of claudication. Follow-up computed tomographic scans confirmed the marked improvement of these arterial lesions. Moreover, plasma pentraxin-3 level was increased in response to the worsening of claudication that occurred just after switching to a subcutaneous tocilizumab injection. Measurements of plasma pentraxin-3 might be useful for evaluation of the vascular wall inflammation and therapeutic efficacy even during biologic therapy targeting tumor necrosis factor α and interleukin-6. Shiho Iwagaitsu and Taio Naniwa Copyright © 2017 Shiho Iwagaitsu and Taio Naniwa. All rights reserved. The Case of Reactive Arthritis Secondary to Echinococcus Infestation Sun, 21 May 2017 07:27:22 +0000 Reactive arthritis is an inflammatory joint disease that develops after an infection and it usually occurs following a gastrointestinal or genitourinary system infection and it belongs to the family of arthritis called “spondyloarthritis.” We wanted to represent a rare case of reactive arthritis secondary to Echinococcus infestation. Cyst hydatid disease is common in endemic regions like Turkey. Internal organ involvements, especially liver and lung, are most frequent involvements. Primary bone involvement is rare complication of Echinococcus infestation. In our case, the patient with Echinococcus infection developed right knee arthritis and sacroiliitis. Other reactive and oligoarthritis causes were excluded and diagnosis of reactive arthritis secondary to cyst hydatid infestation was done with the present findings. Cold pack and TENS treatment were applied as symptomatic treatment to the right knee of the patient. Acemetacin was given as medical treatment. On the 5th day of treatment, right knee and ankle arthritis were clinically regressed. In regions where the disease is seen as endemic, such as Turkey, patients with musculoskeletal symptoms should consider the possibility of musculoskeletal involvement due to the hydatid cyst. Bülent Alım, Sinan Çetinel, M. Alperen Servi, Fahrettin Bostancı, and Mehmet Ozan Bingöl Copyright © 2017 Bülent Alım et al. All rights reserved. Haematological Malignancies in Systemic Sclerosis Patients: Case Reports and Review of the World Literature Thu, 04 May 2017 00:00:00 +0000 Background. The association of systemic sclerosis (SSc) and haematological cancers was reported in a large number of case reports and cohort studies, describing SSc patients with highly heterogeneous clinical pictures. Objective. We reviewed the literature to better describe SSc patients with haematological malignancies. Methods. SSc cases complicated by haematological malignancies described in the world literature were collected; other 2 cases referred to our centre were reported. Results. One hundred-thirty SSc subjects were collected from 1954 up to date. The mean age of patients at cancer diagnosis was 56.1 ± 16.7 years; 72% of patients were females. In 60% of cases, the diagnosis of haematological malignancy was described within 5 years of SSc diagnosis. In 7.8% of cases, coexistence of Sjögren’s syndrome or other autoimmune disorders was cited. Sixty-six cases with lymphoma (in the majority of cases B-cell neoplasms), 28 with leukaemia (chronic lymphocytic form in 9), 14 with multiple myeloma plus one solitary IgM plasmocytoma, and 16 with myeloproliferative disorders were found. No specific SSc subsets seem to be related to haematological malignancies. Conclusions. We remarked the importance of clinical work-up in SSc, in order to early diagnose and treat eventual occult haematological malignancies, especially during the first years of the disease. M. Colaci, D. Giuggioli, C. Vacchi, and C. Ferri Copyright © 2017 M. Colaci et al. All rights reserved. Sarcoidosis: Is It a Possible Trigger of Inclusion Body Myositis? Mon, 24 Apr 2017 00:00:00 +0000 Sarcoidosis is a multisystem disorder of unknown etiology, characterized pathologically by the presence of nonnecrotizing granulomatous inflammation in affected organs. Although skeletal muscle is involved in 50–80 percent of individuals with sarcoidosis, symptomatic myopathy has been shown to be a rare manifestation of the disease. Inclusion body myositis (IBM) is a rare acquired idiopathic inflammatory myopathy with the insidious onset of asymmetric and distal muscle weakness that characteristically involves the quadriceps, tibialis anterior, and forearm flexors. Moreover, dysphagia can be the presenting complaint in one-third of patients. Herein, we are presenting a case of 67-year-old African American female who presented with one-month history of new onset progressive dyspnea on exertion. She was diagnosed with stage IV sarcoidosis based on chest CT scan findings and transbronchial lung biopsy revealing nonnecrotizing granulomatous inflammation. Over the next three months after her diagnosis, she presented to the hospital with progressive dysphagia associated with asymmetrical distal muscle weakness. A quadriceps muscle biopsy revealed features consistent with inclusion body myositis. We are reporting this case as it may support the hypothesis of sarcoidosis being a trigger that possibly promotes the development of inclusion body myositis, leading to a very poor prognosis. Ali Zakaria, Issam Turk, Kenneth Leung, Ana Capatina-Rata, and Waseem Farra Copyright © 2017 Ali Zakaria et al. All rights reserved. SLE and Non-Hodgkin’s Lymphoma: A Case Series and Review of the Literature Mon, 27 Mar 2017 09:47:50 +0000 Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder punctuated by varied multiorgan complications all along the course of its natural history. Lymphoma represents a relatively well-recognized malignant phenomenon associated with lupus. The cause and effect relationships of lymphoma in SLE have been subject to extensive scrutiny with several studies reporting on clinic-pathologic characteristics and risk factors predicting lymphoma development in SLE. However, the pathogenic role of immunosuppressives in SLE-related lymphoma still remains unclear, and indices to help guide diagnosis, prognostication, therapy, and posttreatment monitoring are yet to be established. In this review, we describe 3 SLE patients who developed non-Hodgkin’s lymphoma at different time points of their disease. Through a careful dissection of the aforementioned cases, we intend to apprise readers of the currently available literature surrounding risk factors, management, and prognosis in SLE-related lymphoma. We will also review and discuss the implications of immunosuppressives in SLE-related lymphoma and the role of mycophenolate mofetil in SLE-related primary CNS lymphoma development. Prajwal Boddu, Abdul S. Mohammed, Chandrahasa Annem, and Winston Sequeira Copyright © 2017 Prajwal Boddu et al. All rights reserved. The Child as a Surrogate for Diagnosis of Lupus in the Mother Mon, 13 Mar 2017 06:44:47 +0000 Introduction. Neonatal lupus erythematosus (NLE) is an acquired disease of the newborn caused by transplacental transfer of maternal anti-Ro/SSA, anti-La/SSB, and infrequently anti-U1 RNP antibodies. Methodology. This is a case report of a male infant delivered via Caesarean section at 36-week gestation following detection of fetal bradycardia during routine antenatal clinic visit. Results. The mother was seropositive for antinuclear antibody (ANA) and anti-Ro/SSA and had elevated erythrocyte sedimentation rate. The baby was positive for ANA, extractable nuclear antigen (ENA), and anti-Ro/SSA. Pediatric echocardiography was abnormal and electrocardiography confirmed complete heart block. Olufemi O. Adelowo, Kenneth A. Ohagwu, Ejiehi E. Aigbokhan, and Richard O. Akintayo Copyright © 2017 Olufemi O. Adelowo et al. All rights reserved. An Unusual Presentation of Limited Granulomatosis with Polyangiitis Involving Vagina and Urethra Mon, 13 Mar 2017 00:00:00 +0000 Granulomatosis with polyangiitis (GPA) is a systemic necrotizing granulomatosis vasculitis characterized by predilection to affect small- and medium-sized blood vessels and commonly affects the upper and lower respiratory tract and kidneys in most cases. Genital involvement is reported in <1% of cases in large cohorts and nearly all cases have been in the setting of multisystemic disease or during the course of the disease in patients already diagnosed as GPA. A case is presented of uncommon limited urogenital GPA in a 66-year-old woman with an irregular mass occupying urethra and vagina. The patient showed a good response after Corticoids and Methotrexate. Sandra Soro Marín, Enrique Júdez Navarro, Manuela Sianes Fernández, Ginés Sánchez Nievas, and Juan Gabriel Lorenzo Romero Copyright © 2017 Sandra Soro Marín et al. All rights reserved. A 64-Year-Old Woman with Chest Pain, Limb Weakness, and Endometrial Cancer Wed, 08 Mar 2017 00:00:00 +0000 Necrotizing autoimmune myopathy (NAM) is a rare subgroup of idiopathic inflammatory myopathies (IIM). This pathology usually affects proximal limb muscles and in some cases the myocardium. Patients usually display proximal limb weakness. Muscular biopsy is required to confirm the diagnosis. We report the case of a 64-year-old woman with an atypical first presentation of NAM, manifested by chest pain in the context of metastatic endometrial cancer. The diagnosis of NAM was however made when she returned a second time with proximal limb weakness. A treatment with prednisone was then initiated, to which rituximab was rapidly associated, beside a specific chemotherapy. Simon Ponthus, Omar Kherad, Nicole Petriccioli, Johannes Alexander Lobrinus, and Pierre-André A. Guerne Copyright © 2017 Simon Ponthus et al. All rights reserved. A Rare Case of Digital Ischemia and Gangrene in ANCA-Associated Vasculitis with Review of the Literature Tue, 28 Feb 2017 09:12:09 +0000 This paper describes one patient with Antineutrophil Cytoplasmic Antibody- (ANCA-) associated vasculitis who initially presented with multiple ischemic fingers and toes. On further evaluation, the patient was also found to have pulmonary-renal involvement and episcleritis. The diagnosis was supported with a positive cANCA (anti-proteinase 3) and a bronchoscopy consistent with diffuse alveolar hemorrhage. Although the patient refused a tissue biopsy, clinical presentation including nasal ulceration, sinus congestion, and epistaxis and anti-proteinase 3 antibody were more consistent with Granulomatosis with Polyangiitis (GPA) rather than Microscopic Polyangiitis (MPA) or Eosinophilic Granulomatosis with Polyangiitis (EGPA) based on the recently presented ACR/EULAR Provisional 2017 Classification Criteria for GPA (Luqmani et al., 2016). The patient responded well to therapy including high dose steroids and cyclophosphamide, with improvement of all organs involved and had no further digital ischemia or gangrene on follow-up. We include a review of the English literature summarizing presentation, management, and outcome of 16 similar cases. Richard A. Lau, Ramandeep Bains, Duminda Suraweera, Jane Ma, Emil R. Heinze, Andrew L. Wong, and Philip J. Clements Copyright © 2017 Richard A. Lau et al. All rights reserved. Progressive Pseudorheumatoid Dysplasia or JIA? Tue, 21 Feb 2017 00:00:00 +0000 Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joints were bulky on examination with mild flexion deformity. Patient had exaggerated kyphosis and lumbar lordosis with pigeon chest and restricted hip joint movements. Anteroposterior X-rays of the hip joints revealed widened and flattened epiphyses of the femoral heads with narrow and irregular joint spaces. Hand X-rays revealed periarticular osteopenia, significant narrowing of the joint spaces of proximal interphalangeal, and distal interphalangeal joints, together with osseous enlargement of the basis of metacarpal bones and phalanges. Spinal X-rays revealed generalized platyspondyly and anterior beaking of vertebral bodies. There was a clear mega os trigonum in his feet images. All blood investigations were normal with no evidence of inflammation and thyroid hormone levels were normal. The diagnosis of PPD was favored by imaging studies and normal inflammatory markers and the patient was treated with physiotherapy, family counseling, and anti-inflammatory medications. Geetha Wickrematilake Copyright © 2017 Geetha Wickrematilake. All rights reserved. Antiproteinase 3 Positive Eosinophilic Granulomatosis with Polyangiitis Presenting with Heart Failure and Intraventricular Thrombosis Sun, 29 Jan 2017 00:00:00 +0000 Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis commonly with cardiac complications. We describe a case of anti-PR3 ANCA-positive EGPA complicated by congestive heart failure and intraventricular thrombosis. Interestingly, the thrombus was resolved rapidly with steroid and cyclophosphamide in the setting of interrupted anticoagulation. To the best of our knowledge, we report the first case of anti-PR3 positive EGPA with extensive cardiac involvement. Our patient had overlapping features with previously studied ANCA-positive and ANCA-negative EGPA cases. We also hypothesize that the thrombogenic potential of eosinophils may play a central role in thrombogenesis in EGPA and aggressive immunosuppressive therapy remains the cornerstone of treatment, and the addition of anticoagulation therapy in the setting of thrombus formation and also very high risk of bleeding needs to be considered cautiously. Dan Zhu, Yiming Luo, Xiangyuan Liu, and Lingyun Zu Copyright © 2017 Dan Zhu et al. All rights reserved. Hydralazine Induced Lupus Syndrome Presenting with Recurrent Pericardial Effusion and a Negative Antinuclear Antibody Tue, 17 Jan 2017 07:58:56 +0000 Drug induced lupus erythematosus (DIL or DILE) is an autoimmune disorder caused by chronic use of certain drugs. We report a unique case of hydralazine induced lupus syndrome (HILS) with a negative antinuclear antibody in a female patient who was on hydralazine for a period of 1.5–2 years and developed recurrent pericardial effusion as a result of it. Initially her condition was managed with a pericardial window. The recurrence of a massive pericardial effusion necessitated a right hemipericardiectomy. After hydralazine was stopped, she never had any further episodes of pericardial effusion or tamponade. Praneet Iyer, Ahmed Dirweesh, and Ritika Zijoo Copyright © 2017 Praneet Iyer et al. All rights reserved. Primary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism? Mon, 02 Jan 2017 14:16:18 +0000 Background. Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by abnormal proliferation of the skin and bony structures at the distal extremities resulting in digital clubbing, periosteal bony reaction, and joint effusion. It can be primary (idiopathic) without any clear identifiable etiology as well as secondary to variety of systemic diseases most notably lung pathology. Case Presentation. We describe a rare case of primary idiopathic osteoarthropathy in a male patient who presented with severe pain and tenderness in his legs. His history was significant for long standing alcoholism. Physical examination showed severe fingers and toes clubbing. He reported similar changes in his mother. Clinical and radiological findings were remarkable for distal leg tenderness and diffuse periosteal bony reactions, respectively. Computerized tomography scan failed to show any pathology apart from fatty liver infiltration. In the absence of obesity or diabetes, this was consistent with alcoholic steatosis. He was started on nonsteroidal anti-inflammatory drug which dramatically improved his symptoms. Conclusion. Primary hypertrophic osteoarthropathy should be considered in a previously healthy person presenting with bony pain and finger clubbing especially after ruling out the common secondary causes. Moreover, alteration of prostaglandin metabolism secondary to alcoholic consumption might be a contributing factor. Yanal Alnimer, Suresh Subedi, Thair Dawood, and Ghassan Bachuwa Copyright © 2017 Yanal Alnimer et al. All rights reserved. A Unique Case of Systemic Lupus Erythematosus Pelvic Vasculitis Thu, 29 Dec 2016 14:43:35 +0000 The clinical presentation of Systemic Lupus Erythematosus (SLE) is diverse and vasculitis can be a potential manifestation. Cutaneous lesions involving small vessels are the most frequent presentation. However, medium and large vessel vasculitis may present with life-threatening visceral manifestations. We present a unique case of pelvic vasculitis mimicking a pelvic mass as an initial presentation of SLE. There are case reports of systemic vasculitis involving the female genital tract with giant cell arteritis (GCA), polyarteritis nodosa (PAN), and granulomatous with polyangiitis and microscopic polyangiitis (GPA/MPA), among others, but only a few cases attributed to SLE. Awareness of this condition and a prompt diagnosis are warranted as this is a severe and potentially life-threatening condition. Pamela Traisak, Shristi Basnyat, Hala Eid, Patrick Cronin, Halyna Kuzyshyn, and David Feinstein Copyright © 2016 Pamela Traisak et al. All rights reserved. Postchikungunya Chronic Inflammatory Rheumatism Wed, 28 Dec 2016 11:57:10 +0000 A 65-year-old male resident of Guatemala presented with a 5-month history of distal symmetric arthritis and generalized fatigue. This was associated with night sweats, chills, and weight loss. Symptoms were refractory to oral prednisone and hydroxychloroquine. Keith A. Sacco and Razvan M. Chirila Copyright © 2016 Keith A. Sacco and Razvan M. Chirila. All rights reserved. Can Cell Bound Complement Activation Products Predict Inherited Complement Deficiency in Systemic Lupus Erythematosus? Thu, 15 Dec 2016 09:14:50 +0000 Activation of the classical pathway complement system has long been implicated in stimulating immune complex mediated tissue destruction in systemic lupus erythematosus (SLE). C3 and C4 complement levels are utilized as part of SLE diagnosis and monitoring criteria. Recently, cell bound complement activation products (CBCAPs) have shown increased sensitivity in diagnosing and monitoring lupus activity, compared to traditional markers. CBCAPs are increasingly utilized in rheumatology practice as additional serological markers in evaluating SLE patients. We report a case of a patient diagnosed with SLE that had chronically low C3 and C4, along with negative CBCAPs. We surmise that the patient has an inherited complement deficiency as the etiology of her SLE and that CBCAPs could be used to predict such deficiency. Naveen Raj and Barry Waters Copyright © 2016 Naveen Raj and Barry Waters. All rights reserved. Chronic and Asymptomatic Diffuse Alveolar Haemorrhage with Microscopic Polyangiitis: A Case Report and Review of the Literature Mon, 05 Dec 2016 12:05:47 +0000 Diffuse alveolar haemorrhage (DAH) is one of the major causes of death in microscopic polyangiitis (MPA) patients, because of acute respiratory failure with various respiratory symptoms. We, herein, present a case of chronic and asymptomatic DAH in a patient with MPA who was diagnosed by fibreoptic bronchoscopy. The patient showed localized reticular shadows, without any respiratory symptoms, and absence of inflammatory reactions, such as fever and CRP elevation, which is atypical for DAH. Three months after appearance of the lung abnormalities, DAH with MPA was diagnosed by fibreoptic bronchoscopy. She was initially treated with only corticosteroids and has thereafter been maintained with corticosteroids and azathioprine without relapse to date. We reviewed the literature for similar cases and opined that physicians should perform fibreoptic bronchoscopy in MPA patients with chronic lung abnormalities and anaemia to identify DAH, even if the patients show no respiratory symptoms and in the absence of inflammatory reactions. Hiroki Tashiro, Koichiro Takahashi, Hironori Sadamatsu, Masaru Uchida, Shinya Kimura, and Naoko Sueoka-Aragane Copyright © 2016 Hiroki Tashiro et al. All rights reserved. Combination Immunosuppressive Therapy Including Rituximab for Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis in Adult-Onset Still’s Disease Mon, 28 Nov 2016 11:26:13 +0000 Hemophagocytic lymphopcytosis (HLH) is a life-threatening condition. It can occur either as primary form with genetic defects or secondary to other conditions, such as hematological or autoimmune diseases. Certain triggering factors can predispose individuals to the development of HLH. We report the case of a 25-year-old male patient who was diagnosed with HLH in the context of adult-onset Still’s disease (AOSD) during a primary infection with Epstein-Barr virus (EBV). During therapy with anakinra and dexamethasone, he was still symptomatic with high-spiking fevers, arthralgia, and sore throat. His laboratory values showed high levels of ferritin and C-reactive protein. His condition improved after the addition of rituximab and cyclosporine to his immunosuppressive regimen with prednisolone and anakinra. This combination therapy led to a sustained clinical and serological remission of his condition. While rituximab has been used successfully for HLH in the context of EBV-associated lymphoma, its use in autoimmune diseases is uncommon. We hypothesize that the development of HLH was triggered by a primary EBV infection and that rituximab led to elimination of EBV-infected B-cells, while cyclosporine ameliorated the cytokine excess. We therefore propose that this combination immunosuppressive therapy might be successfully used in HLH occurring in the context of autoimmune diseases. Eva Johanna Schäfer, Wolfram Jung, and Peter Korsten Copyright © 2016 Eva Johanna Schäfer et al. All rights reserved.