RESUMO
Background: Potential influences of parathyroidectomy (PTx) on the quality of life (QoL) in multiple endocrine neoplasia type 1-related primary hyperparathyroidism (HPT/MEN1) are unknown. Method: Short Form 36 Health Survey Questionnaire was prospectively applied to 30 HPT/MEN1 patients submitted to PTx (20, subtotal; 10, total with autograft) before, 6 and 12 months after surgery. Parameters that were analyzed included QoL, age, HPT-related symptoms, general pain, comorbidities, biochemical/hormonal response, PTx type and parathyroid volume. Results: Asymptomatic patients were younger (30 vs 38 years; P = 0.04) and presented higher QoL scores than symptomatic ones: Physical Component Summary score (PCS) 92.5 vs 61.2, P = 0.0051; Mental Component Summary score (MCS) 82.0 vs 56.0, P = 0.04. In both groups, QoL remained stable 1 year after PTx, independently of the number of comorbidities. Preoperative general pain was negatively correlated with PCS (r = -0.60, P = 0.0004) and MCS (r = -0.57, P = 0.0009). Also, moderate/intense pain was progressively (6/12 months) more frequent in cases developing hypoparathyroidism. The PTx type and hypoparathyroidism did not affect the QoL at 12 months although remnant parathyroid tissue volume did have a positive correlation (P = 0.0490; r = 0.3625) to PCS 12 months after surgery. Patients with one to two comorbidities had as pre-PTx PCS (P = 0.0015) as 12 months and post-PTx PCS (P = 0.0031) and MCS (P = 0.0365) better than patients with three to four comorbidities. Conclusion: A variable QoL profile was underscored in HPT/MEN1 reflecting multiple factors associated with this complex disorder as comorbidities, advanced age at PTx and presence of preoperative symptoms or of general pain perception. Our data encourage the early indication of PTx in HPT/MEN1 by providing known metabolic benefits to target organs and avoiding potential negative impact on QoL.
RESUMO
Introdução: A neoplasia endócrina múltipla tipo 2 (MEN2) é uma doença hereditária autossômica dominante causada por mutação germinativa RET, que cursa com carcinoma medular de tireóide (CMT), feocromocitoma (Feo) e hiperparatireoidismo. O CMT é uma neoplasia maligna, que se desenvolve já na 1ª década de vida, pouco responsiva a quimioterapia/radioterapia. Assim, tireoidectomia profilática é indicada antes dos 5 ou dos 10 anos, dependendo do códon mutado, para assegurar a cura. O CMT é um tumor de crescimento lento e os pacientes convivem com o diagnóstico de câncer por décadas. Além disto, podem desenvolver Feo, predispondo os ao risco de óbito por infarto agudo do miocárdio ou acidente vascular em idade jovem. Somam-se situações de stress como risco de transmissão aos descendentes, expectativa de resultados de exames periódicos e risco de múltiplas cirurgias. Há poucos trabalhos enfocando os aspectos psíquicos em MEN2. O doente oncológico pode desenvolver sintomas psicológicos de: ansiedade, depressão, angústia, medo de recorrência da doença, perturbações psicossomáticas, stress decorrente das cirurgias e auto-conceito negativo. Objetivos: avaliar a sintomatologia ansiosa e depressiva, a qualidade de vida, o ajustamento psicológico, a presença de culpa auto-referida pela transmissão da doença aos filhos, o conhecimento da doença e a adesão ao tratamento. Casuística: Avaliação de 43 pacientes pertencentes a 12 famílias com diagnóstico clínico e gênico de MEN2. Metodologia: Avaliação psicológica por Entrevista semidirigida, Escala Hospitalar de Ansiedade e Depressão (HAD), European Organization for Research and Treatment of Cancer Quality of Life, Escala de Ajustamento Mental para Câncer e Estrutura Fatorial. A análise dos dados foi realizada de modo quantitativo e qualitativo. Resultados: Todos os 43 pacientes com MEN2 apresentavam CMT (100%) e 19 deles tinham diagnóstico prévio ou atual de Feo (44%; 19/43). Dos 43 pacientes, 16 (37%) tratados por CMT...
Introduction: Multiple endocrine neoplasia type 2 (MEN2) is autosomal-dominant hereditary cancer syndrome caused by germline RET mutation with high susceptibility to develop tumors as medullary thyroid carcinoma (MTC), pheochromocytoma (Pheo), and hyperparathyroidism. The CMT is a malignancy that develops already in the 1st decade of life, poorly responsive to chemotherapy / radiotherapy. Thus, prophylactic thyroidectomy is indicated before 5 or 10 years, depending on the mutated codon to ensure healing. The CMT is a slow-growing tumor and the patients live with the diagnosis of cancer for decades. In addition, they can develop Pheo, predisposing them to risk of death from myocardial infarction or stroke at a young age. Add to stress conditions such as risk of transmission to offspring, expectative for results of periodic examinations and risk of multiple surgeries. It is known that cancer patients can develop psychological symptoms of anxiety, depression, distress, fear of recurrence, stress for surgery and negative self-concept. However, studies focusing on the psychological aspects in MEN2 are strict and mainly related with the time of RET genetic testing and genetic counselling. Objectives: To assess anxious and depressive symptoms, quality of life, psychological adjustment, presence of guilt by self-reported disease transmission to children, knowledge of disease and treatment adherence. Methods: Evaluation of 43 patients from 12 families with clinical and genetic diagnosis of MEN2. Methodology: Psychological assessment by semi-directed interview, Scale Hospital Anxiety and Depression (HAD), European Organization for Research and Treatment of Cancer Quality of Life Scale, Mental Adjustment to Cancer and Factor Structure. Data analysis was performed quantitatively and qualitatively. Results: All 43 patients had CMT MEN2 (100%) and 19 had previous or current diagnosis of pheochromocytoma (44%, 19/43). Of the 43 patients, 16 (37%) treated by...
