Graves' disease, myxedema, and papillary thyroid carcinoma / Doença de Graves, mixedema e carcinoma papilífero de tireoide

Graves' disease (GD) is the leading cause of hyperthyroidism and diffuse toxic goiter in iodine-sufficient geographi-cal areas. GD is associated with classical manifestations such as ophthalmopathy and thyroid dermopathy, in addi-tion to diffuse goiter, which may be the site of carcinomas, as a complication. Case report: A 52-year-old woman presented with goiter and symptoms compatible with hyperthyroidism, such as heat intolerance, weight loss, fati-gue, increased sweat, tachycardia, fine tremors, increased intestinal transit, anxiety, emotional lability, insomnia, exophthalmos, and pretibial myxedema. A complementary investigation confirmed the diagnosis of hyperthyroidism (high free T4 and total T3 levels and low thyroid-stimulating hormone - TSH levels). Ultrasound images showed dif-fuse enlargement of the thyroid lobes by approximately 10 times and the presence of three thyroid nodules, one of which was larger than 2 cm with heterogeneous echogenicity and vascularization throughout the nodule; ultrasoun-d-guided fine needle aspiration revealed cytology compatible with Bethesda IV; scintigraphy revealed a low uptake area (cold nodule) amid a diffuse high-uptake goiter. A thyroidectomy was performed, and the anatomical specimen diagnosis revealed papillary thyroid carcinoma in the right lobe, with adjacent parenchyma compatible with GD. Histopathological examination of the skin showed the presence of myxedema compatible with Graves' dermopathy. The patient evolved with the normalization of TSH levels and a reduction of cutaneous manifestations. Conclusion:GD abnormalities may not be restricted to the classic clinical manifestations, and a careful investigation may reveal the coexistence of carcinomas. (AU)

A doença de Graves (DG) é a principal causa de hipertireoidismo e bócio difuso tóxico em áreas geográficas com iodo suficiente. DG está associada a manifestações clínicas clássicas como oftalmopatia e dermopatia da tireoide, além do bócio difuso, que pode ser sítio de carcinomas, como uma complicação. Relato de caso: Mulher de 52 anos apresentou bócio e sintomas compatíveis com hipertireoidismo como intolerância ao calor, emagrecimento, fadiga, sudorese aumentada, taquicardia, tremores finos, trânsito intestinal aumentado, ansiedade, labilidade emocional, insônia, exoftalmia e mixedema pré-tibial. A investigação complementar confirmou o diagnóstico de hipertireoidis-mo (níveis elevados de T4 livre e T3 total; níveis baixos de hormônio estimulante da tireoide - TSH). As imagens ultrassonográficas mostraram aumento difuso dos lobos tireoidianos em aproximadamente 10 vezes e a presença de três nódulos tireoidianos, um dos quais, maior que 2 cm, com ecogenicidade e vascularização heterogêneas em todo o nódulo, cuja punção aspirativa por agulha fina guiada por ultrassom revelou citologia compatível com Bethesda IV; e a cintilografia evidenciou uma área de baixa captação (nódulo frio) em meio a um bócio difuso de alta captação. Foi realizada tireoidectomia e o diagnóstico da peça anatômica revelou carcinoma papilífero de tir-eoide em lobo direito, com parênquima adjacente compatível com DG. O exame histopatológico da pele mostrou a presença de mixedema compatível com dermopatia de Graves. A paciente evoluiu com normalização dos níveis de TSH e redução das manifestações cutâneas. Conclusão: As anormalidades da DG podem não estar restritas às manifestações clínicas clássicas, e uma investigação criteriosa pode revelar a coexistência de carcinomas, (AU)

Urgencias endocrinológicas: coma mixedematoso / Endocrine emergencies: myxedema coma

Introducción: en el presente reporte de caso se presenta una urgencia endocrinológica, el coma mixedematoso. Se considera una descompensación del hipotiroidismo y su mortalidad es alta alcanzando hasta 52% en algunas series de casos. Puede desencadenarse por múltiples factores y su presentación clínica es muy variada ya que comprende la afección de diversos sistemas. Presentación del caso: se presenta el caso de una paciente femenina de 42 años de edad que consultó al servicio de urgencias del Hospital de San José de Bogotá con sospecha inicial de una de falla cardiaca descompensada, sin embargo, cursó con pobre mejoría ante el manejo instaurado, por lo cual se realizaron estudios de extensión en donde se encontró una función tiroidea deprimida. Discusión y conclusiones: en este momento se consideró que la paciente padecía un coma mixedematoso, se instauró manejo con dosis altas de levotiroxina oral con lo cual evolucionó de manera favorable y se logró dar de alta a los pocos días.

Introduction: herein we present an endocrine emergency, myxedema coma, which is a form of decompensated hypothyroidism, whose mortality may be as high as 52% as evidenced in some case series. It may be triggered by multiplefactors and has varied clinical presentations for it affects diverse organ systems. Case presentation:we present the case of a 42-year-old female who presented to the emergency department of Hospital de San José in Bogotá with clinical suspicion of decompensated heart failure upon admission, however, her response was poor to the treatment she received. Extension studies were performed which showed low thyroid function. Discussion and conclusions: at this point the patient was diagnosed with myxedema coma, and was started on high doses of oral levothyroxine, with which she evolved favorably and was discharged a few days later.

Convulsiones, derrame pericárdico y rabdomiólisis en debut de coma mixedematoso / Myxedema coma presenting with seizures, pericardial effusion, and rhabdomyolysis

RESUMEN El coma mixedematoso es la complicación más grave de un hipotiroidismo. Ocurre, por lo general, en mujeres ancianas con hipotiroidismo conocido sin un adecuado manejo y en presencia de un evento desencadenante. El diagnóstico es difícil y debe realizarse en forma oportuna para disminuir el riesgo de muerte. El coma es una de las presentaciones neurológicas de esta urgencia endocrinológica y no es necesario su presencia para el diagnóstico. En este reporte de caso se presentan varías manifestaciones inusuales en un paciente masculino con hipotiroidismo profundo que, al diagnóstico, debutó con coma mixedematoso con predictores de mal pronóstico durante la hospitalización, pero debido al abordaje temprano y el manejo integral, se dio una resolución satisfactoria a esta urgencia endocrinológica infrecuente.

SUMMARY Myxedema coma is the most serious complication of hypothyroidism. It usually occurs in the context of elderly women, with known hypothyroidism without proper management and in the presence of a triggering event. The diagnosis is challenging and must be made in a timely manner to prevent the development of adverse outcomes. Coma is one of the neurological manifestations of the entity, not being necessary for its diagnosis. This case report presents a constellation of unusual manifestations of a male patient with myxedema coma at the debut of severe hypothyroidism with predictors of poor prognosis during hospitalization, but due to the early approach and comprehensive management, this uncommon endocrinological emergency was satisfactorily resolved.

Successful therapeutic approach in a patient with elephantiasic pretibial myxedema

Abstract Localized pretibial myxedema is a dermopathy whose treatment is a challenge in dermatology, occurring in 0.5-4% of patients with Graves' disease. This autoimmune thyroid condition stimulates the production of hyaluronic acid and glycosaminoglycans that are deposited particularly in the pretibial region. Clinically, it presents as a localized, circumscribed, and non-depressible infiltrate in plaques. Several treatment modalities have been proposed, and their results vary, with worse response observed in severe cases. This report presents the case of a patient with elephantiasic pretibial myxedema who was subjected to intralesional corticosteroid applications, resulting in an excellent and encouraging therapeutic response that was maintained.

Successful therapeutic approach in a patient with elephantiasic pretibial myxedema.

Localized pretibial myxedema is a dermopathy whose treatment is a challenge in dermatology, occurring in 0.5-4% of patients with Graves' disease. This autoimmune thyroid condition stimulates the production of hyaluronic acid and glycosaminoglycans that are deposited particularly in the pretibial region. Clinically, it presents as a localized, circumscribed, and non-depressible infiltrate in plaques. Several treatment modalities have been proposed, and their results vary, with worse response observed in severe cases. This report presents the case of a patient with elephantiasic pretibial myxedema who was subjected to intralesional corticosteroid applications, resulting in an excellent and encouraging therapeutic response that was maintained.

Coma mixedematoso como presentación de hipotiroidismo / Myxedema coma as presentation of hypothyroidism

Resumen Se presenta un caso de una paciente de 69 años de edad y sin antecedentes personales o familiares de patología tiroidea alguna, que asiste con un estado convulsivo de aparición súbita, de hemicuerpo derecho y relajación esfinteriana, asociado, además, a trastornos del estado de conciencia, bradicardia, bradipnea y edema de difícil Godet en miembros inferiores. Los exámenes complementarios mostraron acidosis respiratoria, hiposecreción de T4 y elevación de la hormona estimulante de la tiroides por retroalimentación negativa. Estos resultados corroboraron el diagnóstico presuntivo de coma mixedematoso. Se emprendió el tratamiento hormonal correspondiente con levotiroxina, al cual respondió satisfactoriamente y fue egresada a los 24 días de su ingreso, pendiente de valoración por el especialista de endocrinología.

Abstract We present the case of a 69-year-old female patient with no personal or family history of any thyroid disease, who attends with a convulsive state of sudden onset, right hemibody and sphincter relaxation, also associated with disorders of the state of consciousness, bradycardia, bradypnea and edema of difficult godet in lower limbs. Complementary analyses showed respiratory acidosis, hyposecretion of T4 and elevation of the thyroid stimulating hormone by negative feedback. These results corroborated the presumptive diagnosis of myxedema coma. The corresponding hormonal treatment with levothyroxine was undertaken, to which it responded satisfactorily and was discharged 24 days after admission, pending evaluation by the endocrinology specialist for an outpatient hormone replacement therapy.

Utility of rituximab treatment for exophthalmos, myxedema, and osteoarthropathy syndrome resistant to corticosteroids due to Graves' disease: a case report.

BACKGROUND: Exophthalmos, myxedema, and osteoarthropathy syndrome is a very rare condition that is associated with Graves' disease. The presence of dermopathy and the involvement of joint/bone tissues indicate that it seems to be related with the severity of the autoimmune process. Owing to its low incidence, there is a lack of information regarding its treatment and clinical follow-up. Some cases improved after use of high doses of steroids; however, some patients do not respond to this treatment. Recently, the effectiveness of rituximab for treatment of Graves' ophthalmopathy resistant to corticosteroids has been demonstrated. However, it has never been used for the treatment of exophthalmos, myxedema, and osteoarthropathy syndrome (particularly for the treatment of osteoarticular manifestations). CASE PRESENTATION: We present the case of a 54-year-old Mexican woman previously treated for Graves' disease who developed post-iodine hypothyroidism and exophthalmos, myxedema, and osteoarthropathy that did not improve after high doses of steroids (intravenous and oral). Her exophthalmos, myxedema, and osteoarthropathy syndrome symptoms improved as early as 6 months after treatment with rituximab. CONCLUSION: Exophthalmos, myxedema, and osteoarthropathy syndrome is a non-classical presentation of Graves' disease, whose clinical manifestations could improve after treatment with rituximab, particularly in those patients with lack of response to high doses of corticosteroids.

Coma mixedematoso e trombo de veia cava superior. Relato de caso e revisão da literatura / Myxedema coma and superior vena cava thrombus: case report and literature review

O coma mixedematoso é uma emergência endocrinológica rara e consiste na máxima expressão do hipotireoidismo, com alta mortalidade por suas complicações hemodinâmicas e ventilatórias, podendo ser agravadas por distúrbios da coagulação. Relatamos o caso de uma paciente diagnosticada com coma mixedematoso e trombo de veia cava superior. Buscamos salientar os distúrbios de coagulação frequentes no hipotireoidismo grave, que contribuem para o aumento da mortalidade deste grupo de pacientes. O diagnóstico e o tratamento precoce do coma mixedematoso, aliados à instituição imediata da terapia para o fenômeno trombótico encontrado, permitiram a evolução favorável do quadro. O relato, juntamente da bibliografia pesquisada, orientou o raciocínio sobre a relação dos distúrbios de coagulação, que ocorrem no hipotireoidismo descompensado. Apesar de poucos relatos, estes distúrbios podem ser frequentes e devem ser pesquisados, pois contribuem com o aumento da mortalidade.(AU)

Myxedema coma is a rare endocrinological emergency, consisting of the highest expression of hypothyroidism with high mortality due to hemodynamic and ventilatory complications, which may be aggravated by coagulation disorders. We report the case of a patient diagnosed with myxedema coma and superior vena cava thrombus. We sought to emphasize the frequent coagulation disorders in severe hypothyroidism, which contribute to increased mortality in this group of patients. The diagnosis and early treatment of myxedema coma, together with the immediate institution of therapy for the thrombotic phenomenon found, allowed the favorable evolution of the condition. The report, together with the literature, has guided the rationale for the influence of coagulation disorders that occur in decompensated hypothyroidism. Despite the few number of reports, these disorders can be frequent and should be investigated because they contribute to the increase in mortality.(AU)

[Myxedema coma]. / Coma mixedematoso.

Hypothyroidism is a frequently diagnosed and simply treated disease. If not recognised, however, in time it may develop into the most severe manifestation of hypothyroidism known as myxedema coma. The term "myxedema coma" is generally seen as misleading since most patients do not initially present in a coma. The typical progression is lethargy evolving into stupor and, eventually, into coma with respiratory failure and hypothermia. It mainly affects elderly women, often occurring in winter and is relatively rare. It can be considered a form of decompensated hypothyroidism often triggered by a variety of non-thyroid conditions or diseases provoking an extremely severe condition of multiple system failure with lethal consequences unless an early diagnosis is made and an aggressive treatment is administered.

Coma mixedematoso / Myxedema coma

El hipotiroidismo es una enfermedad frecuente, de diagnóstico y tratamiento simples. Si no es detectada a tiempo puede progresar a la forma más grave conocida como coma mixedematoso. El término "coma mixedematoso" es considerado generalmente engañoso, ya que la mayoría de los pacientes no se presenta inicialmente en estado de coma. La progresión típica es la letargia, evolucionando al estupor y eventualmente al coma, con insuficiencia respiratoria e hipotermia. Es relativamente infrecuente, afecta fundamentalmente a mujeres ancianas, y a menudo ocurre en invierno. Esta entidad debe ser considerada una forma de hipotiroidismo descompensado, desencadenada a partir de una variedad de enfermedades o condiciones no tiroideas que provocan un compromiso sistémico generalizado de extrema gravedad, con desenlace fatal de no mediar un diagnóstico precoz y un tratamiento intensivo.

Hypothyroidism is a frequently diagnosed and simply treated disease. If not recognised, however, in time it may develop into the most severe manifestation of hypothyroidism known as myxedema coma. The term "myxedema coma" is generally seen as misleading since most patients do not initially present in a coma. The typical progression is lethargy evolving into stupor and, eventually, into coma with respiratory failure and hypothermia. It mainly affects elderly women, often occurring in winter and is relatively rare. It can be considered a form of decompensated hypothyroidism often triggered by a variety of non-thyroid conditions or diseases provoking an extremely severe condition of multiple system failure with lethal consequences unless an early diagnosis is made and an aggressive treatment is administered.

Myxoedema in a patient with achondroplasia in rural area of Guatemala.

A 43-year-old indigenous Guatemalan woman with achondroplasia presented to our clinic with chronic fatigue and generalised oedema. She had limited contact with the formal healthcare system. However, 1 year prior, she had sought medical evaluation from a private physician. Her symptoms had been attributed to a combination of heart failure and physical disability due to the musculoskeletal complications of her achondroplasia. She was lost to follow-up due to inability to pay for further testing or treatment. On initial laboratory evaluation in our clinic, she was found to have a thyrotropin level greater than assay. With initiation of oral levothyroxine supplementation, her dyspnoea and oedema completely resolved. The case illustrates how indigenous patients in rural Guatemala experience many barriers to accessing high-quality medical care. As a result, presentations of common illnesses are often very advanced and definitive diagnoses and treatments are frequently delayed.

Myxedema madness complicating postoperative follow-up of thyroid cancer.

Although hypothyroidism is associated with an increased prevalence of psychiatric manifestations, myxedema madness is rarely observed. We report the case of a 62-year-old woman with no prior history of psychiatric disorders, who presented to the emergency department with psychomotor agitation 6 weeks after total thyroidectomy for papillary thyroid cancer. Serum thyroid stimulating hormone (TSH) on admission was 62.9 mIU/L and free T4 was < 0.35 ng/dL, indicating severe hypothyroidism. After ruling out other possible causes, the diagnosis of myxedema madness was considered; hence, antipsychotic drug treatment and intravenous levothyroxine were prescribed. Behavioral symptoms returned to normal within 4 days of presentation, while levels of thyroid hormones attained normal values 1 week after admission. Recombinant TSH (Thyrogen®) was used successfully to prevent new episodes of mania due to thyroid hormone withdrawal in further controls for her thyroid cancer. This case illustrates that myxedema madness can occur in the setting of acute hypothyroidism, completely reverting with levothyroxine and antipsychotic treatment. Recombinant TSH may be a useful tool to prevent myxedema madness or any severe manifestation of levothyroxine withdrawal for the follow-up of thyroid cancer.

Pre-tibial myxedema: treatment with intralesional corticosteroid.

The pretibial myxedema is a manifestation of Graves' disease characterized by accumulation of glycosaminoglycans in the reticular dermis. The dermopathy is self-limiting but in some cases may cause cosmetic and functional damage. Conventional treatment is use of topical steroids under occlusive dressing, however the intralesional application has shown good results. We present a case of pretibial myxedema treated with single injection of intralesional corticosteroid.

Myxedema madness complicating postoperative follow-up of thyroid cancer

Although hypothyroidism is associated with an increased prevalence of psychiatric manifestations, myxedema madness is rarely observed. We report the case of a 62-year-old woman with no prior history of psychiatric disorders, who presented to the emergency department with psychomotor agitation 6 weeks after total thyroidectomy for papillary thyroid cancer. Serum thyroid stimulating hormone (TSH) on admission was 62.9 mIU/L and free T4 was < 0.35 ng/dL, indicating severe hypothyroidism. After ruling out other possible causes, the diagnosis of myxedema madness was considered; hence, antipsychotic drug treatment and intravenous levothyroxine were prescribed. Behavioral symptoms returned to normal within 4 days of presentation, while levels of thyroid hormones attained normal values 1 week after admission. Recombinant TSH (Thyrogen®) was used successfully to prevent new episodes of mania due to thyroid hormone withdrawal in further controls for her thyroid cancer. This case illustrates that myxedema madness can occur in the setting of acute hypothyroidism, completely reverting with levothyroxine and antipsychotic treatment. Recombinant TSH may be a useful tool to prevent myxedema madness or any severe manifestation of levothyroxine withdrawal for the follow-up of thyroid cancer.

Pre-tibial myxedema: treatment with intralesional corticosteroid

The pretibial myxedema is a manifestation of Graves' disease characterized by accumulation of glycosaminoglycans in the reticular dermis. The dermopathy is self-limiting but in some cases may cause cosmetic and functional damage. Conventional treatment is use of topical steroids under occlusive dressing, however the intralesional application has shown good results. We present a case of pretibial myxedema treated with single injection of intralesional corticosteroid.

Diagnóstico e tratamento do coma mixedematoso / Diagnosis and treatment of myxedema coma

Coma mixedematoso é definido como uma forma de hipotireoidismo muito severo, que ocasiona decréscimo da consciência, hipotermia e outros sintomas relacionados à diminuição da função tireoidiana, afetando múltiplos órgãos. Trata-se de uma emergência que deve ser prontamente reconhecida e tratada, devido a alta mortalidade.

Myxedema coma is defined as severe hypothyroidsm leadind to decreased mental status, hypothermia and other symptoms related to impairment of thyroid function, afecting multiple organs. It is an emergency and should be immediately treated and recognized since the mortality is very high.

Coma mixedematoso em paciente com neurofibromatose tipo 1: associação rara / Myxedema coma in a patient with type 1 neurofibromatosis: rare association

O coma mixedematoso (CM) é uma emergência endocrinológica rara, porém letal e consiste na expressão extrema do hipotireoidismo. Relatamos o caso de um paciente do sexo masculino, 51 anos, que abandonou tratamento do hipotireoidismo por 10 meses e evoluiu com sintomas de letargia, edema e intolerância ao frio que culminaram em insuficiência respiratória e coma. Apresentava também diagnóstico prévio de neurofibromatose. O diagnóstico precoce do coma mixedematoso aliado à instituição imediata do tratamento com levotiroxina e ao manejo adequado de complicações, como insuficiência respiratória, choque cardiogênico associado a swinging heart, insuficiências adrenal e renal agudas e sepse, permitiu a evolução favorável do quadro.

Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis of neurofibromatosis. After admission, he progressed to respiratory insufficiency and coma. The prompt recognition of the condition, thyroid hormone replacement, and management of the complications (hypoventilation, cardiogenic shock associated with swinging heart, adrenal and renal insufficiency and sepsis), resulted in a favorable evolution.

Mixedema de la vía aérea superior como causa de Sahos transitorio: reporte de caso / Upper airway myxedema as a cause of transient osas. Case report

El Síndrome de Apnea-Hipopnea del Sueño (SAHOS) y el hipotiroidismo tienen varios signos y síntomas en común; esta similitud crea un solapamiento en sus presentaciones clínicas, que pudieran llevar a un sinnúmero de casos de hipotiroidismo sin diagnosticar durante el SAHOS. La incidencia de los estados de hipotiroidismo en pacientes con síndrome de apnea del sueño aún no se conoce, por lo que es razonable evaluar la función tiroidea en todos los pacientes. Estudios previos han demostrado una asociación entre el hipotiroidismo y la apnea obstructiva del sueño; sin embargo, los trastornos endocrinos asociados a la obstrucción de la vía aérea superior en el adulto continúan siendo una de las causas más raras de obstrucción, después del trauma, infección, reacciones alérgicas y malignidad. Se presenta el caso clínico de una paciente de 41 años de edad, con hipotiroidismo manifiesto y mixedema supraglótico, que desarrolló síndrome transitorio severo de apnea-hipopnea del sueño durante un mes, el cual mejoró después del tratamiento médico con reemplazo de hormona tiroidea...

The Obstructive Sleep Apnea Syndrome (OSAS) and hypothyroidism have several signs and symptoms in common, this similarity creates an overlap in their clinical presentations that could lead to a number of cases of hypothyroidism undiagnosed for OSAS. Incidence of hypothyroidism in patients with Obstructive Sleep Apnea Syndrome is not yet known, so it is reasonable to evaluate thyroid function in all patients. Previous studies have shown an association between hypothyroidism and obstructive sleep apnea, however, endocrine disorders associated with obstruction of the upper airway in adults remains one of the rarest causes of obstruction, after trauma, infection, allergic reactions and malignancy. Its presented a clinical case of a female 41 years old patient with overt hypothyroidism and supraglottic myxedema, who developed severe Transient Obstructive Sleep Apnea Syndrome for a month, which improved after medical treatment with thyroid hormone replacement...