ABSTRACT
Los síndromes poliglandulares autoinmunes son una serie de anomalías funcionales que causan desregulación inmunitaria y afectan a múltiples glándulas endocrinas del organismo. Las patologías crónicas en un paciente adulto no siempre son independientes una de otra, sino más bien, múltiples presentaciones clínicas con un origen en común. Presentamos el caso de una paciente femenina de tercera edad, con antecedentes de vitÍligo, alopecia, hipertensión arterial y diabetes mellitus tipo 2, acude a consulta por presentar astenia, adinamia y somnolencia de aproximadamente 10 meses de evolución, al examen físico biotipo pícnico, mixedema, piel seca más bocio, laboratorio reporta TSH (12 UI/ml), T4 libre (0.2 ng/dl), Anti TPO 168.70 UI/ml, USG que determina bocio tiroideo y patrón micro nodular, se hace el diagnóstico de tiroiditis de Hashimoto. Es así que el análisis de los antecedentes patológicos junto al padecimiento actual, nos permitieron diagnosticar un síndrome poli glandular autoinmune tipo III-C.
Polyglandular autoimmune syndromes (PAS) are a series of functional anomalies that can cause immunitary deregulation affecting multiple endocrine glands. Chronic pathologies in adult patients are not always independent from one another, but rather, are unique defects with multiple clinical presentations.We report an elderly female patient with a history of vitiligo, alopecia, hypertension and type 2 diabetes mellitus who came into a consultation for asthenia, adynamia and drowsiness for approximately 10 months. The physical exam showed a pyknic biotype, myxedema, dry skin and goiter.Test results show TSH (12 lU/ml), free T4 (0. 2 ng/dl), Anti TPO 168.70 lU/ml, USG reported thyroid goiter and a micro nodular pattern where the diagnosis of Hashimoto's thyroiditis is made. This study demonstrated that, through understanding the pathological history alongside the current disease, we can diagnose a polyglandular autoimmune syndrome type III-C.
ABSTRACT
SUMMARY Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison's disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Its less frequent clinical presentation is the combination of AD, Graves' disease, and T1DM. We present the case of a 42-year-old woman with a history of total thyroidectomy due to Graves' disease, type 2 diabetes mellitus, and hypertension, who sought the ED due to asthenia, dizziness, nausea, and vomiting. She reported having stopped antihypertensive therapy due to hypotension and presented a glycemic record with frequent hypoglycemia. On physical examination, she had cutaneous hyperpigmentation. She had no leukocytosis, anemia, hypoglycemia, hyponatremia or hyperkalemia, and a negative PCR. Serum cortisol <0.5 ug/dl (4,3-22,4), urine free cortisol 9 ug/24h (28-214), ACTH 1384 pg/mL (4,7-48,8), aldosterone and renin in erect position of 0 pg/ml (41-323) and 430.7 uUI/ml (4.4-46.1) respectively. Quantiferon TB was negative; computerized axial tomography of the adrenals showed no infiltrations, hemorrhage, or masses. The 21-hydroxylase antibody assay was positive. B12 vitamin was normal, anti-GAD antibodies were positive, anti-insulin, anti-IA2, and anti-transglutaminase antibodies were all negative. The patient started insulin therapy and treatment for AD with prednisolone and fludrocortisone with good clinical response. This case aims to alert to the need for high clinical suspicion in the diagnosis of AD. Since this is a rare autoimmune disease, it is important to screen for other autoimmune diseases in order to exclude APS.
RESUMO A síndrome poliglandular autoimune tipo 2 (SPGA2) é definida pela presença de doença de Addison (DA) associada à doença tiroideia autoimune e/ou diabetes mellitus tipo 1 (DMT1). Trata-se de uma doença rara, afetando cerca de 1,4-2 casos/100.000 habitantes. A apresentação clínica menos frequente é a combinação de DA, doença de Graves e DMT1. Apresenta-se mulher de 42 anos, com antecedentes de tiroidectomia total por doença de Graves, diabetes mellitus tipo 2 e hipertensão, que recorre ao SU por quadro arrastado de astenia, emagrecimento, tonturas, náuseas e vômitos. Referia ter suspendido terapêutica anti-hipertensora por hipotensão e apresentava registro glicêmico com hipoglicemias frequentes. Ao exame físico, salientava hiperpigmentação cutânea. Analiticamente sem leucocitose, anemia, hipoglicemia, hiponatremia ou hipercaliemia, PCR negativa. Cortisol sérico matinal <0,5 ug/dl (4,3-22,4), cortisol livre na urina 9 ug/24h (28-214), ACTH 1.384 pg/mL (4,7-48,8), aldosterona e renina em posição ereta de 0 pg/mL (41-323) e 430,7 uUI/mL (4,4-46,1), respectivamente. Realizado estudo complementar para averiguar causa de insuficiência suprarrenal primária. Quantiferon TB negativo, tomografia axial computadorizada das suprarrenais sem infiltrações, hemorragia ou massas. Anticorpos anti-21-hidroxilase positivos. Foi aprofundada a investigação com vitamina B12 normal, anti-GAD positivo, anti-insulina, anti-IA2, antitransglutaminase, negativos. Nesse contexto, a doente iniciou insulinoterapia e tratamento dirigido para a DA com prednisolona e fludrocortisona, com boa resposta clínica. Este caso tem como objetivo alertar para a necessidade de elevada suspeição clínica no diagnóstico de DA. Sendo esta uma doença autoimune rara, é importante rastrear outras doenças autoimunes no sentido de excluir SPGA.
Subject(s)
Humans , Female , Adult , Polyendocrinopathies, Autoimmune/diagnosis , Addison Disease/diagnosis , Graves Disease/diagnosis , Treatment Outcome , Polyendocrinopathies, Autoimmune/drug therapy , Rare Diseases , Early Diagnosis , Diabetes Mellitus, Type 1/diagnosisABSTRACT
Background: Schmidt's syndrome, also known as poliglandular autoimmune syndrome type 2, is a rare disease that has a prevalence between 1.5-4.5 cases per 100 000 inhabitants. The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The aim of this paper is to describe a case of Schmidt's syndrome in the peruvian context and to analyze the difficulties in the diagnosis. Clinical case: We present the case of a 43-year-old woman that presents to the emergency room with headache, nausea, vomits and a "syncope episode". The patient had a history of secondary amenorrhea, Addison disease, hypothyroidism, osteoporosis and diabetes mellitus type 2. Physical exam showed hyperpigmentation, hypotension and bradycardia. Lab exams demonstrated leukocytosis, hyponatremia, hyperglycemia, and compensated metabolic alkalosis. The emergency management consisted on rehydration, corticoids and insulin. During the hospital stance, exams included follicle stimulation hormone increasement and vaginal echography determined uterine hypoplasia. The patient was discharged one month later with Schmidt's syndrome, based on autoimmune thyroiditis, Addison's disease and hypergonadotrophic hypogonadism. In a two week later control, the patient was asymptomatic with levothyroxine, fluodrocortisone, estradiol and insulin treatment. Conclusions: In our context, Schmidt's syndrome is a very rare disease, which leads to a late diagnosis and difficult management.
Introducción: El síndrome de Schmidt es una enfermedad rara que se presenta con prevalencia de entre 1.5 - 4.5 casos por cada 100 mil habitantes. El diagnóstico consiste en la presentación concomitante de la enfermedad de Addison, enfermedad tiroidea autoinmune y otras condiciones endocrinológicas autoinmunes. El objetivo de este trabajo fue describir un caso de síndrome de Schmidt en el contexto peruano y analizar las dificultades en el diagnóstico. Caso clínico: Se describe un caso de una paciente mujer de 43 años, quien acudió a Emergencias por cefalea intensa, náuseas y vómitos. La paciente tenía como antecedentes amenorrea secundaria, enfermedad de Addison, hipotiroidismo, osteoporosis y diabetes mellitus. Los exámenes auxiliares demostraron leucocitosis, hiponatremia, hiperglicemia y alcalosis metabólica compensada. Durante la hospitalización se encontró hormona folículo estimulante elevada y la ecografía transvaginal determinó hipoplasia uterina. Luego de un mes de hospitalización fue dada de alta con el diagnóstico de síndrome de Schmidt compuesto por: hipotiroidismo autoinmune con anticuerpos anti-peroxidasa, enfermedad de Addison e hipogonadismo hipergonadotrópico. Dos semanas después, la paciente se encuentra asintomática con manejo adecuado a base de levotiroxina, fluodrocortisona, valerato de estradilol e insulina. Conclusión: El síndrome de Schmidt es una enfermedad poco común en nuestro medio, lo que genera un diagnóstico tardío y manejo inadecuado.
Subject(s)
Polyendocrinopathies, Autoimmune/diagnosis , Adult , Female , Humans , PeruABSTRACT
BACKGROUND: Data collected in EHRs have been widely used to identifying specific conditions; however there is still a need for methods to define comorbidities and sources to identify comorbidities burden. We propose an approach to assess comorbidities burden for a specific disease using the literature and EHR data sources in the case of autoimmune diseases in celiac disease (CD). METHODS: We generated a restricted set of comorbidities using the literature (via the MeSH® co-occurrence file). We extracted the 15 most co-occurring autoimmune diseases of the CD. We used mappings of the comorbidities to EHR terminologies: ICD-10 (billing codes), ATC (drugs) and UMLS (clinical reports). Finally, we extracted the concepts from the different data sources. We evaluated our approach using the correlation between prevalence estimates in our cohort and co-occurrence ranking in the literature. RESULTS: We retrieved the comorbidities for 741 patients with CD. 18.1% of patients had at least one of the 15 studied autoimmune disorders. Overall, 79.3% of the mapped concepts were detected only in text, 5.3% only in ICD codes and/or drugs prescriptions, and 15.4% could be found in both sources. Prevalence in our cohort were correlated with literature (Spearman's coefficient 0.789, p = 0.0005). The three most prevalent comorbidities were thyroiditis 12.6% (95% CI 10.1-14.9), type 1 diabetes 2.3% (95% CI 1.2-3.4) and dermatitis herpetiformis 2.0% (95% CI 1.0-3.0). CONCLUSION: We introduced a process that leveraged the MeSH terminology to identify relevant autoimmune comorbidities of the CD and several data sources from EHRs to phenotype a large population of CD patients. We achieved prevalence estimates comparable to the literature.
Subject(s)
Autoimmune Diseases/epidemiology , Celiac Disease/epidemiology , Electronic Health Records , Adult , Comorbidity , Cost of Illness , Data Mining , Female , Humans , Male , Middle Aged , Phenotype , WorkflowABSTRACT
Fundamento: la afección poliglandular autoinmune constituye una rareza clínica; de todas las variantes, el síndrome poliglandular autoinmune tipo II (SPGA-II) es el más común, el cual está caracterizado fundamentalmente por la presencia de la enfermedad de Addison autoinmune combinada con tiroiditis autoinmune y diabetes mellitus tipo 1. Este síndrome ocurre fundamentalmente alrededor de la tercera y cuarta décadas de la vida, donde se reporta comúnmente en mujeres con relación a los hombres, con una proporción de 3-4:1. Objetivo: presentar un caso clínico de un síndrome de Schmidt-Carpenter. Caso clínico: paciente femenina de 35 años de edad que presenta a los 20 años diabetes mellitus tipo 1, seguida nueve años después de una tiroiditis de Hashimoto, y en los últimos cincos años amenorrea alternando con metrorragias y tres abortos espontáneos; en el ingreso hospitalario se constata alopecia y un complejo sintomático compatible con insuficiencia suprarrenal. Los estudios clínicos y analíticos comprobaron la presencia de un síndrome de Schmidt-Carpenter asociado a hipogonadismo y alopecia. Conclusiones: este síndrome es una rara enfermedad severa de múltiples glándulas endocrinas causada por trastornos inmunes con destrucción de los tejidos. El diagnóstico es clínico, comprobado por la determinación de los niveles hormonales y las pruebas de inmunidad. Se debe diferenciar de otros procesos inmunes, cromosómicos, hematológicos y digestivos que afectan diferentes glándulas y órganos. La terapéutica empleada fue eficaz. Esta enfermedad es importante para las especialidades clínicas, especialmente la medicina interna, la endocrinología, la inmunología y la genética.
Background: polyglandular autoimmune syndrome type II is a clinical rarity; among all variants this syndrome is the most common. It is mainly characterized by the presence of autoimmune Addison´s disease combined with autoimmune thyroiditis and type I diabetes mellitus. This syndrome appears around the third and fourth decades of life. It is more frequent in women than in men, in a ratio of 3-4:1. Objective: to present a clinical case of Schmidt-Carpenter syndrome. Clinical Case: a thirty-five-year-old female patient who presented type I diabetes mellitus at the age of 20 and nine years later a Hashimoto´s thyroiditis. In the last five years the patient presented amenorrhea alternated with metrorrhagia and had three miscarriages. After her hospital admission, it was established alopecia and a symptomatic complex compatible with adrenal insufficiency. Clinical and analytical studies confirmed the presence of Shmidt-Carpenter syndrome associated with hypogonadism and alopecia. Conclusions: this syndrome is a rare and severe disease that affects multiple endocrine glands caused by immune disorders with destruction of tissues. The diagnosis is clinical, confirmed by the establishment of hormonal levels and immunity tests. This syndrome should be differentiated from other immune, chromosomal, hematological, and digestive processes that affect other glands and organs. The therapeutics employed was effective. This disease is relevant to clinical specialties, particularly for internal medicine, endocrinology, immunology, and genetics.
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Objective To evaluate the associations of human leukocyte antigen(HLA)-DQ gene with autoimmune polyglandular syndrome(APS),type 1 diabetic mellitus(T1DM) and autoimmune thyroid disease(AITD).Methods Fifteen cases of APS,29 cases of T1DM and 40 cases of AITD were selected as research subjects,while 27 healthy children were selected as controls.The DQA1 and DQB1 alleles were determined by polymerase chain reaction(PCR) and sequence-based typing method.The difference of their frequency in children and adolescents was analyzed.Results Compared with controls,APS and T1DM patients had increased frequency of subjects with DQA1*0301,0501(all P
