Case history: A 39 year old female had a first admission to her local hospital with cough and haemoptysis. She reported palpitations for the previous 6 months and had been previously investigated with an echocardiogram which showed a normal LV function. There was no other past medical history. During this first admission CT Pulmonary Angiogram (CTPA) demonstrated ground-glass opacifications. She was hypertensive and so a 24 hour urine sample was collected for metanephrines but at that time no result was available. She was treated for suspected community acquired pneumonia and discharged. She re-attended A&E 6 weeks later and had a second admission. She again presented with haemoptysis but also breathlessness and type 1 respiratory failure with a blood pressure of 107/84 mmHg. A repeat CTPA identified bilateral pulmonary haemorrhage. She was admitted to ITU, intubated and ventilated. The initial working diagnosis was pulmonary vasculitis treated with high dose steroids.
Investigations: The troponin I on admission was 1196 ng/l (<40) and 927 ng/l the following day. Echocardiogram demonstrated a significantly reduced LV function and global basal akinetic segments. The urine metadrenaline result became available and was elevated. Plasma metanephrines were urgently processed and demonstrated extremely high levels (plasma metadrenaline > 9000 pmol/L, normetadrenaline > 40,000 pmol/L and 3-methoxytyramine 386 pmol/L). A CT chest/abdomen/pelvis revealed a large 8.2 cm solitary heterogeneous mass arising from the right adrenal gland. The patient was referred and transferred to a tertiary centre for management of phaeochromocytoma crisis. FDG PET demonstrated intense glycolytic in the right adrenal mass with no evidence of other sites of disease.
Results and treatment: After adequate alpha-blockade, she underwent successful open right adrenalectomy. The histology confirmed a 9 cm infiltrating and locally aggressive phaeochromocytoma with a Ki67 of 10% and a clear resection margin. Genetic testing did not reveal any disease causing variant.
Conclusions and points for discussion: Phaeochromocytoma can be challenging to diagnose and can present with haemodynamic compromise and LV dysfunction which may mimic cardiomyopathy or acute coronary syndrome. Haemoptysis and pulmonary haemorrhage is a rare presentation of phaeochromocytoma crisis, first described in 1975 and rarely since. Cases are often misdiagnosed initially as pulmonary vasculitis. Phaeochromocytoma should therefore be regarded as a rare differential in respiratory crisis as well as a cause of unexplained cardiogenic shock, acute LV dysfunction or troponin leak especially in a young patient.
08 - 10 Apr 2019
Society for Endocrinology