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A 19-year-old woman of Moroccan descent presented with severe dyspnoea on exertion. She had difficulty walking stairs (New York Heart Association functional class 3) and accompanying symptoms included fatigue, palpitations and near collapse. She had no cough or wheezing, but mentioned severe and continuous menstrual bleeds since menarche without use of contraceptives. Her medical history included long-standing complaints of fainting, abdominal pains and chest pain, without a clear diagnosis. The family history included hypercholesterolaemia and venous thromboembolic disease (VTE). In fact, 1 year prior to this presentation, the patient was diagnosed with PE herself. Other than a temporary mild polycythaemia (haemoglobin concentration of 16 g/dL) no risk factors for VTE had been discovered at that time.
Physical examination showed a thin woman with a body mass index of 17 kg/m2 (height 161 cm and weight 44 kg). Her blood pressure was 82/51 mm Hg, while her extremities appeared warm. Her heart rate was 91 bpm, the respiratory rate 16/min and oxygen saturation (SpO2) 98%. Heart and lungs appeared normal, but abdominal examination revealed overt hepatosplenomegaly. There were no signs of peripheral oedema, venous thrombosis or clubbing.
Routine blood chemistry showed a haemoglobin level of 16.0 g/dL, haematocrit 57%, a mean corpuscular volume of 72, reticulocyte index 18% together with a serum iron of 6.1 μmol/L and a ferritin of 7 μg/L, suggestive for anaemia secondary to severe iron deficiency, most likely due to hypermenorrhoea. The N-terminal pro brain natriuretic peptide level was elevated to 196 pg/mL. Thrombocytes, white blood cells, kidney function, liver enzymes and thyroid stimulating hormone were all within reference values (see online supplementary table S3). No abnormalities were noted on the chest radiograph; however, a transthoracic echocardiogram showed mild right ventricular (RV) dilatation and dysfunction, a tricuspid annular plane systolic excursion of 23 mm, an estimated RV systolic pressure of 57 mm Hg and right atrial pressure of …
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