Diagnosis and Treatment > Investigation > Adrenaline
You are looking at 1 - 4 of 4 items
Search for other papers by Alessandro Rossini in
Google Scholar
PubMed
Search for other papers by Francesca Perticone in
Google Scholar
PubMed
Search for other papers by Laura Frosio in
Google Scholar
PubMed
Search for other papers by Marco Schiavo Lena in
Google Scholar
PubMed
Search for other papers by Roberto Lanzi in
Google Scholar
PubMed
Summary
ACTH-secreting pheochromocytoma is a very rare cause of Cushing’s syndrome, with a high morbidity and mortality risk due to both cortisol and catecholamines excess. We report the case of a 45-year-old female patient with a 3 cm, high-density, left adrenal mass, diagnosed as an ACTH-secreting pheochromocytoma. The biochemical sensitivity of the tumor to somatostatin analogues was tested by a 100 μg s.c. octreotide administration, which led to an ACTH and cortisol reduction of 50 and 25% respectively. In addition to alpha and beta blockers, preoperative approach to laparoscopic adrenalectomy included octreotide, a somatostatin analogue, together with ketoconazole, in order to achieve an adequate pre-surgical control of cortisol release. Histopathological assessment confirmed an ACTH-secreting pheochromocytoma expressing type 2 and 5 somatostatin receptors (SSTR-2 and -5).
Learning points:
-
ACTH-secreting pheochromocytomas represent a rare and severe condition, characterized by high morbidity and mortality risk.
-
Surgical removal of the adrenal mass is the gold standard treatment, but adequate medical therapy is required preoperatively to improve the surgical outcome and to avoid major complications.
-
Somatostatin analogs, in addition to other medications, may represent a useful therapeutic option for the presurgical management of selected patients.
-
In this sense, the octreotide challenge test is a useful tool to predict favorable therapeutic response to the treatment.
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Eka Melson in
Google Scholar
PubMed
Search for other papers by Sidra Amir in
Google Scholar
PubMed
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Lisa Shepherd in
Google Scholar
PubMed
Search for other papers by Samina Kauser in
Google Scholar
PubMed
Search for other papers by Bethan Freestone in
Google Scholar
PubMed
Search for other papers by Punith Kempegowda in
Google Scholar
PubMed
Summary
Although pheochromocytoma classically presents with headaches, palpitations and paroxysmal hypertension, atypical presentations such as cardiomyopathy, stroke and subarachnoid haemorrhage have been infrequently documented. We present in this case report, an uncommon presentation of pheochromocytoma with myocardial infarction with normal coronary arteries (MINOCA). A 79-year-old woman presented with central crushing chest pain radiating to left arm associated with headache, palpitations, sweating and difficulty in breathing. For 2 years, she experienced brief episodes of headache, tinnitus, dizziness, palpitations, and sweating that spontaneously resolved. Clinical examination was unremarkable except for high blood pressure (210/105 mmHg). Her electrocardiogram showed T wave inversions from V1 to V6 and elevated troponins (774 ng/L at baseline and 932 ng/L 3 h from baseline (normal <16 ng/L) in keeping with a diagnosis of non-ST elevated myocardial infarction. Coronary angiography showed normal coronary arteries. Patient was hence treated as myocardial infarction with normal coronaries (MINOCA). Despite appropriate treatment for MINOCA, she continued to experience episodic headaches, palpitations, dizziness and erratic blood pressures (particularly severe hypertension shortly after beta-blocker administration). Further investigations revealed raised urine noradrenaline of 4724 nmol/24 h (<554 nmol/24 h) and urine adrenaline of 92863 nmol/24 h (<77 nmol/24 h). Computerised tomography demonstrated a well-defined rounded mass in right adrenal gland morphological of pheochromocytoma. She underwent laparoscopic right adrenalectomy with histology confirming pheochromocytoma. This case highlights the importance of thorough investigation for the underlying cause for MINOCA. In patients with unexplained erratic blood pressure control, pheochromocytoma should be considered as a differential diagnosis.
Learning points:
-
Pheochromocytoma is rare tumour that often presents with non-specific symptoms.
-
It is important to investigate underlying cause of MINOCA.
-
Thorough history is the key to diagnosis.
Search for other papers by Natasha Shrikrishnapalasuriyar in
Google Scholar
PubMed
Search for other papers by Mirena Noyvirt in
Google Scholar
PubMed
Search for other papers by Philip Evans in
Google Scholar
PubMed
Search for other papers by Bethan Gibson in
Google Scholar
PubMed
Search for other papers by Elin Foden in
Google Scholar
PubMed
Search for other papers by Atul Kalhan in
Google Scholar
PubMed
A 54-year-old woman was admitted to hospital with a presumed allergic reaction to a single dose of amoxicillin given for a suspected upper respiratory tract infection. She complained of chest tightness although there was no wheeze or stridor. On examination, she was pyrexial, tachycardic, hypertensive and had a diffuse mottled rash on her lower limbs. Her initial investigations showed raised inflammatory markers. She was treated in the intensive care for a presumed anaphylactic reaction with an underlying sepsis. Further investigations including CT head and CSF examination were unremarkable; however, a CT abdomen showed a 10 cm heterogeneous right adrenal mass. Based on review by the endocrine team, a diagnosis of pheochromocytoma crisis was made, which was subsequently confirmed on 24-h urinary metanephrine measurement. An emergency adrenalectomy was considered although she was deemed unfit for surgery. Despite intensive medical management, her conditioned deteriorated and she died secondary to multi-organ failure induced by pheochromocytoma crisis.
Learning points:
-
Pheochromocytoma have relatively higher prevalence in autopsy series (0.05–1%) suggestive of a diagnosis, which is often missed.
-
Pheochromocytoma crisis is an endocrine emergency characterized by hemodynamic instability induced by surge of catecholamines often precipitated by trauma and medications (β blockers, general anesthetic agents, ephedrine and steroids).
-
Pheochromocytoma crisis can mimic acute coronary syndrome, cardiogenic or septic shock.
-
Livedo reticularis can be a rare although significant cutaneous marker of underlying pheochromocytoma crisis.
Search for other papers by Kohei Saitoh in
Google Scholar
PubMed
Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan
Search for other papers by Takako Yonemoto in
Google Scholar
PubMed
Search for other papers by Takeshi Usui in
Google Scholar
PubMed
Search for other papers by Kazuhiro Takekoshi in
Google Scholar
PubMed
Search for other papers by Makoto Suzuki in
Google Scholar
PubMed
Search for other papers by Yoshiharu Nakashima in
Google Scholar
PubMed
Search for other papers by Koji Yoshimura in
Google Scholar
PubMed
Search for other papers by Rieko Kosugi in
Google Scholar
PubMed
Search for other papers by Tatsuo Ogawa in
Google Scholar
PubMed
Search for other papers by Tatsuhide Inoue in
Google Scholar
PubMed
Summary
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of apparently sporadic PCC/PGL cases carry 1 of the 12 gene germline mutations conferring genetic susceptibility to PCC/PGL. Although the precise mechanisms are unclear, TMEM127 is one of the rare responsible genes for PCC/PGL. Here we report the case of a patient with familial PCC having a novel TMEM127 variant (c.119C > T, p.S40F). In silico prediction analysis to evaluate the functional significance of this variant suggested that it is a disease-causing variant. A PCC on the left side was considered to be the dominant lesion, and unilateral adrenalectomy was performed. The histopathologic findings were consistent with benign PCC. A loss of heterogeneity of the TMEM127 variant was detected in the surgically removed tumour.
Learning points:
-
c.119C > T (p.S40F) is a novel TMEM127 variant that can cause pheochromocytoma.
-
The tumour showed loss of heterozygosity of this TMEM127 variant.
-
The clinical phenotype of this mutation is putative bilateral pheochromocytoma in the 4th decade.
-
Unilateral adrenalectomy may be performed as the initial surgery in such cases.
