Endocrine Abstracts

We present extremely rare case of a female patient with the coincidence of hyperthyroidism, exophthalmos and Erdheim–Chester disease (a rare form of non-Langerhans cell histiocytosis, positive BRAF mutation). The patient was hospitalized due to exacerbations of the primary disease and symptoms of thyroid dysfunction. For about two months, the patient has reported increased feeling of heat, sweating, palpitations, weight loss of about 10 kg for 3 months, significant intensification of exophthalmos, pain in the eyeballs, lacrimation, feeling of sand under the eyelids. In addition, the patient has been taking amiodarone for 1.5 years (due to ventricular arrhythmias). The medical history also revealed central diabetes insipidus, progressive retroperitoneal and peraortic fibrosis involving the adrenal glands, aorta, inferior vena cava, spreading into the mediastinum, condition after insertion of JJ catheters into both ureters due to stagnation in the calicapelic system, multiple osteosclerotic changes. During the diagnostics and treatment, it was found that the exacerbation of eye symptoms (bilateral exophthalmos) was caused by the masses of fibrous tissue formed in the course of the underlying disease – the patient was referred to orbits decompression. During the observation, due to the diagnosed hyperthyroidism, the patient was qualified to radical treatment with radioiodine – it was obtained euthyreosis with substitution treatment with l-thyroxine. This case illustrates the importance of careful attention of diagnostics, treatment and monitoring even despite the most typical course of hyperthyroidism – and if necessary to accelerate and extend the treatment with additional tests.