ACROMEGALY: DIAGNOSIS FROM A TECHNICAL PERSPECTIVE
ABSTRACT:
Introduction: Acromegaly is a rare disease resulting from overproduction of Growth Hormone (GH) and Growth Factor Similar to Insulin Type 1 (IGF-1). Clinically, it develops slowly and insidiously, which corroborates for a late diagnosis, when many characteristics of the disease have already become manifest and irreversible. Therefore, the time of diagnosis becomes an essential part in the management of the disease, which, at times, can be hindered by atypical or subtle presentations, especially for doctors or other health professionals with little experience in the case. Methodology: This is a descriptive observational study of the type "Case Report" whose information was obtained exclusively through the analysis of medical records. In addition, a bibliographic review on the topic (acromegaly) was carried out for greater theoretical support. Case Description: Male patient, 57 years old, started follow-up with an Endocrinologist to follow a levothyroxine replacement that he had started 3 months before (after total thyroidectomy for large adenomatous goiter). In the anamnesis, the patient reported healthy lifestyle habits, with regular physical exercise practices and a stable weight. Of historical past, he referred only the use of CPAP (Continuous Positive Airway Pressure) for the treatment of Obstructive Sleep Apnea Syndrome (OSAS). During the physical examination, apparent mandibular prognathism, anterior incisor teeth slightly apart and macroglossia were identified. These clinical characteristics associated to the history of adenomatous thyroid disease (in the absence of autoimmune disease, family history or origin from an endemic region) raised the hypothesis of acromegaly. After investigation with laboratory and imaging exams, the diagnosis of acromegaly due to pituitary macroadenoma was confirmed and the therapeutic management was instituted. During the clinical follow-up, the patient showed a gradual and complete improvement of all symptoms related to the disease, greatly improving his quality of life. Discussion: The patient in the case had an atypical presentation of acromegaly, which hindered his early diagnosis. However, when analyzing the case retrospectively, there were many celebrations (well described in the literature) that could anticipate the diagnostic hypothesis, such as macroglossia, OSAS and adenomatous goiter. On physical examination, it is notable that a characteristic as classic as the acromegalic facies was not identified by the other specialists who followed the case. However, it was identified by the Endocrinologist at the first appointment and it was crucial for the appropriate follow-up of the diagnostic investigation. In contrast to the clinical presentation, the results of laboratory and imaging tests were quite typical of the disease. Conclusion: Although acromegaly is an easily understood disease in textbooks, atypical and subtle presentations can delay diagnosis in the absence of the Endocrinologist. Thus, it is extremely important to question the etiological diagnosis in cases of macroglossia, OSAS and adenomatous goiter - which can be performed by any doctor. With an early and timely diagnosis of the disease, the onset of cardiovascular and metabolic complications, associated with increased mortality, can and should be avoided.
Keywords: acromegaly; macroglossia; sleep apnea; nodular goiter; prostatic hyperplasia; research; adenoma.
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