AB 69. Coexistence of Wilson’s disease and sarcoidosis in a 35-year-old female
Background: The simultaneous diagnosis of two relatively rare coexisting diseases.
Patients and methods: Description of clinical and laboratory findings.
Results: A thirty-five year-old female was referred to a neurology department for symptoms of resting, postural and kinetic tremor of the upper extremities as well as head tremor. Diagnostic workup revealed Kaiser-Fleischer rings in both eyes, high levels of copper in the urine (200 μg/24 h with normal value [n.v.] <100, low levels of ceruloplasmine (17.5 mg/dL-n.v.22-58) and marginally low serum copper (0.6 μg/mL-n.v.0.7-1.4). A diagnosis of Wilson’s disease was established. The patient’s chest radiograph, however, showed enlarged pulmonary hili which were confirmed, by computed tomography, to represent enlarged lymph nodes. The patient’s angiotensin converting enzyme was 72.2 U/L (n.v. 12-68), spirometry was normal (FEV1: 87%, FVC: 88%, Dlco: 81%, FRC: 89%, RV: 82%, TLC: 84%) and she did not have considerable hemoglobin desaturation during a six-minute walk test (97% to 96%, distance walked: 360 m). A bronchoalveolar lavage was performed: Cells: 0.132×106, alveolar macrophages 44%, lymphocytes 42%, neutrophils 6%, mononuclear 3%, eosinophils 5%. Ratio CD4/CD8: 2.57. Τhe patient was started on triethylenetetramine (Trientin) for her primary disease and was followed up for her stage I sarcoidosis. Three years later she remains clinically stable with no respiratory symptoms, with unchanged findings from spirometry and computed tomography regarding sarcoidosis. The coexistence of these two diseases is rare. Only one similar case has been reported. It concerned a forty-three year-old male, who presented with symptoms and signs of cirrhosis and no neurologic symptoms. He had been diagnosed with sarcoidosis nine years earlier and been treated with corticosteroids.
Conclusions: The existence of one rare disease should not deter the search towards a coexisting disease if signs and symptoms are not compatible with the first one.
