RESUMEN
INTRODUCTION: Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile-onset MCTD (jMCTD) worldwide especially from Southeast Asia. OBJECTIVES: To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India. METHODS: A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail. RESULTS: Thirty-one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5-18 years) and the median duration of symptoms was 24 months at diagnosis (range 2-96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud's phenomenon (70.9%). At a mean follow-up of 43 months (range 1-168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively. CONCLUSION: We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study's findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.
Asunto(s)
Enfermedad Mixta del Tejido Conjuntivo , Humanos , Niño , Masculino , Femenino , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Enfermedad Mixta del Tejido Conjuntivo/epidemiología , India/epidemiología , Adolescente , Preescolar , Resultado del Tratamiento , Edad de Inicio , Inmunosupresores/uso terapéutico , Antirreumáticos/uso terapéutico , Estudios Retrospectivos , Factores de Tiempo , Inducción de RemisiónRESUMEN
Mixed connective tissue disease (MCTD) is a rare autoimmune condition. Since its first description 50 years ago, its mere existence has been debated, given that it shares features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), systemic sclerosis, inflammatory myopathy, rheumatoid arthritis and Sjogren's syndrome. Also, while antibodies to U1-RNP are essential for the diagnosis of MCTD, these antibodies may be expressed in other circumstances, such as in case of SLE. Nevertheless, the patient fulfilling criteria for MCTD needs specific management. In this review, we describe the clinical features and the potential complications of this complex disease, often wrongly disregarded as benign. We will also emphasize the recommended follow-up exams and address treatment, which is currently lacking formal recommendations.
La connectivite mixte (mixed connective tissue disease (MCTD)) est une maladie auto-immune rare. Dès sa description il y a cinquante ans, l'existence propre de la MCTD est débattue, car les limites avec d'autres maladies, comme le lupus érythémateux systémique (LES), la sclérodermie, les myopathies inflammatoires, la polyarthrite rhumatoïde et le syndrome de Sjögren, sont floues. Les anticorps anti-U1-RNP obligatoires au diagnostic de MCTD sont également exprimés dans d'autres circonstances, comme le LES. Quoi qu'il en soit, le patient présentant des critères de MCTD nécessite une prise en charge spécifique. Nous présentons ici les signes cliniques et complications potentielles d'une maladie longtemps estimée à tort comme d'évolution bénigne. Nous abordons aussi les examens de suivi recommandés et la thérapeutique, qui reste à ce jour mal définie.
Asunto(s)
Artritis Reumatoide , Enfermedades Autoinmunes , Lupus Eritematoso Sistémico , Enfermedad Mixta del Tejido Conjuntivo , Humanos , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Existencialismo , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapia , Enfermedades RarasRESUMEN
Undifferentiated connective tissue disease (CTD) usually refers to patients who are presented with certain symptoms and signs related to CTD, and positive serological evidence of autoimmune diseases but don't fulfill any of the classification criteria for a certain CTD. Mixed CTD refers to patients who are presented with one or more clinical manifestations such as hand swelling, synovitis, myositis, Raynaud's phenomenon, and acrosclerosis. Patients with mixed CTD always have high-titer anti-nuclear antibodies (ANA) of speckled pattern and high-titer anti-U1 ribonuclear protein (RNP) antibody in serum, while with negative anti-Sm antibody. The update of diagnosis and treatment of undifferentiated CTD and mixed CTD lags behind other established CTD. There is a lack of evidence from randomized controlled trials or guidelines/recommendations on the treatment of undifferentiated CTD or mixed CTD. At present, the conventional therapy is mainly adopted according to the specific clinical manifestations of the disease. The standardized diagnosis and treatment of undifferentiated CTD and mixed CTD were drafted by the Chinese Rheumatology Association based on the previous guidelines and the progress of available evidence, so as to improve the management of these patients in China.
Asunto(s)
Enfermedades del Tejido Conjuntivo , Enfermedad Mixta del Tejido Conjuntivo , Enfermedad de Raynaud , Enfermedades Indiferenciadas del Tejido Conectivo , Anticuerpos Antinucleares , Enfermedades del Tejido Conjuntivo/diagnóstico , Enfermedades del Tejido Conjuntivo/terapia , Humanos , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Enfermedad de Raynaud/diagnóstico , Enfermedades Indiferenciadas del Tejido Conectivo/diagnósticoRESUMEN
OBJECTIVES: As a rare and heterogeneous disease, mixed connective tissue disease (MCTD) represents a challenge. Herein, we aimed to unravel potential pitfalls including correct referral diagnosis, distinction from other connective tissue diseases (CTD) and treatment modalities. METHODS: We characterised the MCTD cohort at our tertiary referral centre. All patients were evaluated for fulfilment of classification criteria of various CTDs. SLEDAI-2 K and EUSTAR-AI were used in accordance with previous research to evaluate disease activity and treatment response. RESULTS: Out of 85 patients initially referred as MCTD, only one-third (33/85, 39%) fulfilled the diagnostic MCTD criteria and the other patients had undifferentiated CTD (16/85, 19%), non-MCTD overlap syndromes (11/85, 13%) and other rheumatic diseases. In our final cohort of 33 MCTD patients, 16 (48%) also met the diagnostic criteria of systemic sclerosis, 13 (39%) these of systemic lupus erythematosus, 6 (18%) these of rheumatoid arthritis and 3 (9%) these of primary myositis. Management of MCTD required immunomodulating combination therapy in most cases (15/28, 54%), whereas monotherapy was less frequent (10/28, 36%), and only a few (3/28, 11%) remained without immune modulators until the end of the follow-up period. Treatment led to a significant decline in disease activity. CONCLUSIONS: Our study showed a high risk for misdiagnosis for patients with MCTD. As a multi-organ disease, MCTD required prolonged immunomodulating therapy to achieve remission. The establishment of an international registry with longitudinal data from observational multi-centre cohorts might represent a first step to address the many unmet needs of MCTD.
Asunto(s)
Artritis Reumatoide , Lupus Eritematoso Sistémico , Enfermedad Mixta del Tejido Conjuntivo , Enfermedades Reumáticas , Esclerodermia Sistémica , Artritis Reumatoide/diagnóstico , Humanos , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapia , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Esclerodermia Sistémica/diagnósticoRESUMEN
BACKGROUND: Although the survival rate of thrombocytopenic purpura (TTP) has increased significantly due to the introduction of therapeutic plasma exchange (TPE). TTP in patients with mixed connective tissue disease (MCTD) has a very high mortality rate and a very small number of reported cases. In TTP, daily TPE is administered until a treatment response is achieved; however, in practice, TPE is often not performed for such long durations. METHODS: We report a case of TTP with MCTD in a female patient. She had developed thrombocytopenia and hemolytic anemia 9 months after delivery. She had status epilepticus and lapsed into a coma. RESULTS: The patient was successfully treated with extended sessions of TPE with corticosteroids and rituximab. CONCLUSIONS: Although the TTP regimen has not yet been established and remains controversial, this report demonstrates the importance of continuing daily TPE until achieving a treatment response.
Asunto(s)
Anemia Hemolítica , Enfermedad Mixta del Tejido Conjuntivo , Púrpura Trombocitopénica Trombótica , Rituximab , Adulto , Femenino , Humanos , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/terapia , Intercambio Plasmático , Púrpura Trombocitopénica Trombótica/complicaciones , Púrpura Trombocitopénica Trombótica/diagnóstico , Púrpura Trombocitopénica Trombótica/terapia , Rituximab/uso terapéuticoRESUMEN
Pulmonary arterial hypertension is a lethal complication of different connective tissue diseases such as systemic sclerosis, mixed connective tissue disease and systemic lupus erythematosus. Although the treatment possibilities for patients with pulmonary arterial hypertension have increased in the last two decades and survival of patients with idiopathic pulmonary arterial hypertension has improved, the latter is not the case for patients with pulmonary arterial hypertension associated with connective tissue disease. In this narrative review, we review recent literature and describe the improvement of early diagnostic possibilities, screening modalities and treatment options. We also point out the pitfalls in diagnosis in this patient category and describe the unmet needs and what the focus of future research should be.
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Enfermedades del Tejido Conjuntivo/terapia , Hipertensión Pulmonar/terapia , Enfermedades del Tejido Conjuntivo/complicaciones , Dermatomiositis/complicaciones , Dermatomiositis/terapia , Manejo de la Enfermedad , Humanos , Hipertensión Pulmonar/diagnóstico , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/fisiopatología , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/terapia , Tamizaje Masivo , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/terapia , Pronóstico , Hipertensión Arterial Pulmonar/diagnóstico , Hipertensión Arterial Pulmonar/etiología , Hipertensión Arterial Pulmonar/fisiopatología , Hipertensión Arterial Pulmonar/terapia , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/terapia , Síndrome de Sjögren/complicaciones , Síndrome de Sjögren/terapiaRESUMEN
Mixed connective tissue disease (MCTD) involves various clinical manifestations, and pulmonary hypertension (PH) is an important organ dysfunction defining the prognosis of MCTD. The pathology of PH is heterogeneous. Here, we present 2 cases of MCTD complicated by PH that had contrasting clinical courses. The first case involved a 54-year-old woman with Raynaud's phenomenon and dyspnoea on exertion. She was diagnosed with MCTD accompanied by pulmonary arterial hypertension (PAH) and was treated with ambrisentan and tadalafil in addition to high-dose glucocorticoid (GC) therapy and rituximab therapy. After treatment, her PH resolved. The second case involved a 64-year-old woman with Raynaud's phenomenon and dyspnoea on exertion. She was similarly diagnosed with MCTD accompanied by PAH and was treated with ambrisentan and tadalafil in addition to high-dose GC therapy and cyclophosphamide pulse therapy. However, she showed exacerbation of her respiratory condition and manifestation of pulmonary veno-occlusive disease (PVOD). Thus, the treatment was discontinued, and subsequently, her condition improved and eventually returned to that before treatment. The findings suggest that the presence or absence of latent PVOD might be an important factor for predicting the therapeutic responsiveness of MCTD-associated PH. Evaluation of chest radiography findings, computed tomography findings, percent vital capacity, and percent carbon monoxide diffusion capacity might be useful for predicting prognosis and might aid in treatment. PVOD could be underlying in patients with CTD-PH. When the complication of PVOD is suggested by chest CT or pulmonary function test, we need a careful introduction with pulmonary vasodilators. So, combination therapy of pulmonary vasodilators should not be applied in all patients with CTD-PH since underlying PVOD could deteriorate the patient's condition.
Asunto(s)
Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Hipertensión Arterial Pulmonar/tratamiento farmacológico , Hipertensión Arterial Pulmonar/etiología , Vasodilatadores/uso terapéutico , Femenino , Humanos , Inmunosupresores/administración & dosificación , Inmunosupresores/efectos adversos , Inmunosupresores/uso terapéutico , Persona de Mediana Edad , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Hipertensión Arterial Pulmonar/diagnóstico , Enfermedad Veno-Oclusiva Pulmonar/diagnóstico , Pruebas de Función Respiratoria , Evaluación de Síntomas , Resultado del Tratamiento , Vasodilatadores/administración & dosificaciónAsunto(s)
Dermatomiositis , Lupus Eritematoso Sistémico , Enfermedad Mixta del Tejido Conjuntivo , Esclerodermia Localizada , Esclerodermia Sistémica , Niño , Dermatomiositis/diagnóstico , Dermatomiositis/terapia , Diagnóstico Diferencial , Femenino , Humanos , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapia , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Pronóstico , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/terapia , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/terapiaRESUMEN
RATIONALE: Mixed connective tissue disease (MCTD) refers to an overlapping condition of different autoimmune disorders such as systemic lupus erythematosus, cutaneous systemic sclerosis, rheumatoid arthritis, polymyositis, and dermatomyositis. However, MCTD manifesting as transverse myelitis is extremely rare. Herein, we report a case of MCTD with both central and peripheral nervous system involvement. PATIENT CONCERNS: We describe and discuss the clinical findings and management of a 36-year-old man presented with a 2-week history of sudden bilateral lower-limb paralysis and dysuresia. Further investigation of his medical history showed a 6-month history of autoimmune symptoms. DIAGNOSES: The patient was diagnosed with MCTD, transverse myelitis, mononeuritis multiplex, and multiple lacunar infarctions. INTERVENTIONS: A combination of low-dose methylprednisolone (40âmg/d) and hydroxychloroquine sulfate (400âmg/d) was administered. OUTCOMES: After treatment, the symptoms were significantly improved. The patient recovered well after 1 year follow-up and the sequela was urinary incontinence and grade 4/5 lower-extremity muscle strength. LESSONS: MCTD with multiple neurological complications is extremely rare and poses diagnostic and therapeutic challenges. Our experience suggests a combination of low-dose corticosteroids and hydroxychloroquine sulfate may be an effective therapeutic approach.
Asunto(s)
Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedades del Sistema Nervioso/complicaciones , Enfermedades del Sistema Nervioso/diagnóstico , Adulto , Humanos , Masculino , Enfermedad Mixta del Tejido Conjuntivo/terapia , Enfermedades del Sistema Nervioso/terapiaRESUMEN
Juvenile systemic lupus erythematosus (jSLE), mixed connective tissue disease (jMCTD), and Sjögren syndrome (jSS) are systemic autoimmune and inflammatory disorders with distinct patterns of organ involvement. All are characterized by autoantibody formation, with antinuclear (ANA) and anti-double-stranded DNA common in jSLE, ANA with high-titer ribonucleoprotein antibody in jMCTD, and Sjögren syndrome A and Sjögren syndrome B antibodies + ANA in jSS. Recognition, monitoring, and management for primary care providers are discussed, focusing on the role of primary physicians in recognizing and helping maintain optimal health in children with these potentially life-threatening diseases.
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Lupus Eritematoso Sistémico , Enfermedad Mixta del Tejido Conjuntivo , Síndrome de Sjögren , Adolescente , Antiinflamatorios no Esteroideos/uso terapéutico , Niño , Diagnóstico Diferencial , Humanos , Inmunosupresores/uso terapéutico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapia , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Pediatras , Pronóstico , Síndrome de Sjögren/diagnóstico , Síndrome de Sjögren/terapiaRESUMEN
Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD) characterised by the combination of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis, in the presence of elevated titers of anti-U1-RNP antibodies. Main symptoms of the disease are polyarthritis, hand oedema, Raynaud's phenomenon, sclerodactyly, myositis and oesophageal hypomobility. Although widely discussed, most authors today accept MCTD as an independent entity. Others, however, suggest that these patients may belong to subgroups or early stages of certain definite connective diseases, such as SLE or SSc, or are, in fact, SARD overlap syndromes.
Asunto(s)
Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Diagnóstico Diferencial , Disentimientos y Disputas , Humanos , Enfermedad Mixta del Tejido Conjuntivo/mortalidad , Enfermedad Mixta del Tejido Conjuntivo/terapiaAsunto(s)
Enfermedad Mixta del Tejido Conjuntivo/terapia , Terapia con Helmintos/métodos , Adulto , Femenino , Humanos , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/inmunología , Enfermedad Mixta del Tejido Conjuntivo/fisiopatología , Monitoreo Fisiológico/métodos , Resultado del TratamientoRESUMEN
Extra Musculoskeletal manifestations are a distinct clinical entity that refers to a combination of clinical features, which are found in multiple rheumatic diseases. Besides the standard manifestations, other organs can be damaged such as the vascular system, skin, gastrointestinal tract, musculoskeletal system, cardiopulmonary system, hematologic system, kidneys, and the central nervous system. Among the gastrointestinal MCTD symptoms, the most frequent are the esophageal ones. Treatment of patients with MCTD must be performed by both medical and surgical multidisciplinary teams in order to provide a management suitable for the patients' needs. All authors have contributed significantly and have been involved in the writing of the manuscript in draft and any revision stages, and have read and approved its final version.
Asunto(s)
Enfermedades del Esófago/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedades del Esófago/patología , Enfermedades del Esófago/terapia , Humanos , Enfermedad Mixta del Tejido Conjuntivo/patología , Enfermedad Mixta del Tejido Conjuntivo/terapiaRESUMEN
Autoimmune diseases often have overlapping symptoms and laboratory somewhat unfamiliar to the non-rheumatologist. Characteristic signs, symptoms, and autoantibodies define specific connective tissue diseases. Some patients have some characteristic symptoms, but cannot be definitively classified. Still other patients meet criteria for more than one specific connective tissue disease. These patients can be confusing with regard to diagnosis and prognosis. Clarification of each patient's condition can lead to improved patient care.
Asunto(s)
Enfermedad Mixta del Tejido Conjuntivo/inmunología , Autoanticuerpos , Humanos , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapiaRESUMEN
BACKGROUND: Untreated mental health problems may result in poor outcomes for youth with systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD). We investigated perceptions, barriers and facilitators for mental healthcare of these youth. METHODS: We conducted 32 semi-structured interviews with 16 outpatient youth with SLE/MCTD, ages 11-22 years, and their parents. We used purposive sampling to deliberately obtain the experiences of youth screened during a previous study for depression and anxiety with the Patient Health Questionnaire 9 and the Screen for Childhood Anxiety and Related Disorders, respectively. We recruited 6 youth with previous positive screens and 10 with negative screens. We assessed interim mental health history, and qualitatively examined perceptions, barriers and facilitators for mental healthcare. RESULTS: Youth with a mental health history increased from 6 (38%) at initial screening to 9 (56%) at interview (mean follow-up = 2.1 years). Youth receiving mental health treatment increased from 33 to 67%. Youth and parents identified rheumatologists as primary physicians and found mental health screening in rheumatology acceptable. Barriers to mental healthcare included: stigma; fear; uncertainty about getting help; parental emotional burden; minimization by doctors; and limited mental healthcare access. Facilitators included: strong clinician relationships; clinician initiative, sincerity and normalization in discussing mental health; and increased patient/family awareness of mental health issues in SLE/MCTD. CONCLUSION: Youth with SLE/MCTD and their parents perceive pediatric rheumatologists as a preferred source for mental health screening, guidance and referral. Interventions addressing barriers and enhancing facilitators may improve mental healthcare for youth with SLE/MCTD.
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Accesibilidad a los Servicios de Salud , Lupus Eritematoso Sistémico/psicología , Servicios de Salud Mental , Enfermedad Mixta del Tejido Conjuntivo/psicología , Adolescente , Niño , Femenino , Humanos , Entrevistas como Asunto , Lupus Eritematoso Sistémico/terapia , Masculino , Enfermedad Mixta del Tejido Conjuntivo/terapia , Padres/psicología , Investigación Cualitativa , Adulto JovenRESUMEN
Various inflammatory and autoimmune conditions affecting joints of the hand and wrist can present with symptoms similar to those of rheumatoid arthritis. The most common of these nonrheumatoid arthroses are psoriatic arthritis, systemic lupus erythematosus, and systemic sclerosis. Management of these and several other conditions is typically medical in nature and continues to evolve with the development of biologically targeted medications. Surgical treatment is not frequently used but can be efficacious for severe cases to alleviate symptoms and correct deformities.
Asunto(s)
Mano/patología , Inflamación/diagnóstico , Inflamación/terapia , Muñeca/patología , Artritis Psoriásica/diagnóstico , Artritis Psoriásica/terapia , Dermatomiositis/diagnóstico , Dermatomiositis/terapia , Humanos , Inestabilidad de la Articulación/diagnóstico , Inestabilidad de la Articulación/terapia , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapia , Enfermedad de Lyme/diagnóstico , Enfermedad de Lyme/terapia , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/terapia , Espondiloartropatías/diagnóstico , Espondiloartropatías/terapiaAsunto(s)
Enfermedad Mixta del Tejido Conjuntivo , Autoanticuerpos/inmunología , Encefalitis/etiología , Humanos , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/inmunología , Enfermedad Mixta del Tejido Conjuntivo/patología , Enfermedad Mixta del Tejido Conjuntivo/terapia , Mielitis/etiología , Enfermedades del Sistema Nervioso Periférico/etiología , Pronóstico , Enfermedades del Nervio Trigémino/etiologíaRESUMEN
BACKGROUND: Mixed connective tissue disease (MCTD) is a connective tissue disorder characterized by high titers of distinct antibodies: U1 ribonucleoprotein with clinical features seen in systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), dermatomyositis (DM), polymyositis, and scleroderma. The association of SLE and DM with various cancers of the thyroid has been reported in the literature. However, there have been no reports associating MCTD with thyroid cancer. CASE REPORT: We present a 58-year-old woman diagnosed with MCTD with co-morbid interstitial lung disease that has remained stable for 10 years, who developed papillary thyroid carcinoma (PTC) 10 years after initial diagnosis. CONCLUSIONS: We theorize that: 1) MCTD may have been a primary diagnosis complicated by PTC, or 2) MCTD may have been an initial presentation of paraneoplastic syndrome of silent PTC, because her symptoms of MCTD significantly improved after total thyroidectomy. To the best of our knowledge, this is the first case report to associate MCTD with PTC. It highlights the importance of maintaining a high index of suspicion for thyroid malignancy in MCTD patients.
Asunto(s)
Carcinoma/complicaciones , Carcinoma/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Neoplasias de la Tiroides/complicaciones , Neoplasias de la Tiroides/diagnóstico , Carcinoma/terapia , Carcinoma Papilar , Femenino , Humanos , Persona de Mediana Edad , Enfermedad Mixta del Tejido Conjuntivo/terapia , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/terapiaRESUMEN
Mixed connective tissue disease (MCTD) is a rare connective tissue disease frequently involving the lungs. The main characteristic is a systemic sclerosis-like picture of slowly progressing interstitial lung disease consistent with lung fibrosis, while pulmonary arterial hypertension is rare. Herein, we present a case of a newly diagnosed MCTD patient developing life-threatening acute pneumonitis similar to lupus pneumonitis. Previous literature on this exceptionally rare complication of MCTD is reviewed and differential diagnosis and management discussed.
Asunto(s)
Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/terapia , Neumonía/diagnóstico , Neumonía/terapia , Insuficiencia Respiratoria/prevención & control , Enfermedad Aguda , Adulto , Cuidados Críticos/métodos , Diagnóstico Diferencial , Femenino , Humanos , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Neumonía/etiología , Insuficiencia Respiratoria/diagnóstico , Insuficiencia Respiratoria/etiología , Resultado del TratamientoRESUMEN
Mixed connective tissue disease (MCTD) is an overlap syndrome first defined in 1972 by Sharp et al. In this original study, the portrait emerged of a connective tissue disorder sharing features of systemic lupus erythematosus, systemic sclerosis (scleroderma) and polymyositis. Scleroderma renal crisis (SRC) is an extremely infrequent but serious complication that can occur in MCTD. The histologic picture of SRC is that of a thrombotic micro-angiopathic process. Renal biopsy plays an important role in confirming the clinical diagnosis, excluding overlapping/superimposed diseases that might lead to acute renal failure in MCTD patients, helping to predict the clinical outcome and optimizing patient management. We herewith report a rare case of SRC in a patient with MCTD and review the relevant literature.