Clinical Overview > Condition/ Syndrome > Phaeochromocytoma
You are looking at 11 - 20 of 24 items
Search for other papers by Catherine Alguire in
Google Scholar
PubMed
Search for other papers by Jessica Chbat in
Google Scholar
PubMed
Search for other papers by Isabelle Forest in
Google Scholar
PubMed
Search for other papers by Ariane Godbout in
Google Scholar
PubMed
Search for other papers by Isabelle Bourdeau in
Google Scholar
PubMed
Summary
Pheochromocytoma is a rare tumor of the adrenal gland. It often presents with the classic triad of headache, palpitations and generalized sweating. Although not described as a typical symptom of pheochromocytoma, anxiety is the fourth most common symptom reported by patients suffering of pheochromocytoma. We report the case of a 64 year old man who had severe anxiety and panic disorder as presenting symptoms of pheochromocytoma. After 13 years of psychiatric follow-up, the patient was diagnosed with malignant pheochromocytoma. After surgical resection of his pheochromocytoma and his hepatic metastases, the major panic attacks completely disappeared, the anxiety symptoms improved significantly and the psychiatric medications were stopped except for a very low maintenance dose of venlafaxine. We found in our cohort of 160 patients with pheochromocytoma 2 others cases of apparently benign tumors with severe anxiety that resolved after pheochromocytoma resection. These cases highlight that pheochromocytoma should be included in the differential diagnosis of refractory anxiety disorder.
Learning points:
-
Anxiety and panic disorder may be the main presenting symptoms of pheochromocytoma.
-
The diagnosis of pheochromocytoma should be excluded in cases of long-term panic disorder refractory to medications since the anxiety may be secondary to a catecholamine-secreting tumor.
-
Surgical treatment of pheochromocytoma leads to significant improvement of anxiety disorders.
Search for other papers by Cheuk-Lik Wong in
Google Scholar
PubMed
Search for other papers by Chun-Kit Fok in
Google Scholar
PubMed
Search for other papers by Vicki Ho-Kee Tam in
Google Scholar
PubMed
Summary
We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma. Resection of the parathyroid adenoma and pheochromocytoma resulted in normalization of biochemical abnormalities and hypertension. The rare concurrence of primary hyperparathyroidism and pheochromocytoma in neurofibromatosis type-1 is discussed.
Learning points:
Search for other papers by R T Casey in
Google Scholar
PubMed
Search for other papers by B G Challis in
Google Scholar
PubMed
Search for other papers by D Pitfield in
Google Scholar
PubMed
Search for other papers by R M Mahroof in
Google Scholar
PubMed
Search for other papers by N Jamieson in
Google Scholar
PubMed
Search for other papers by C J Bhagra in
Google Scholar
PubMed
Search for other papers by A Vuylsteke in
Google Scholar
PubMed
Search for other papers by S J Pettit in
Google Scholar
PubMed
Search for other papers by K C Chatterjee in
Google Scholar
PubMed
Summary
A phaeochromocytoma (PC) is a rare, catecholamine-secreting neuroendocrine tumour arising from the adrenal medulla. Presenting symptoms of this rare tumour are highly variable but life-threatening multiorgan dysfunction can occur secondary to catecholamine-induced hypertension or hypotension and subsequent cardiovascular collapse. High levels of circulating catecholamines can induce an acute stress cardiomyopathy, also known as Takotsubo cardiomyopathy. Recent studies have focused on early diagnosis and estimation of the prevalence of acute stress cardiomyopathy in patients with PC, but very little is reported about management of these complex cases. Here, we report the case of a 38-year-old lady who presented with an acute Takotsubo or stress cardiomyopathy and catecholamine crisis, caused by an occult left-sided 5 cm PC. The initial presenting crisis manifested with symptoms of severe headache and abdominal pain, triggered by a respiratory tract infection. On admission to hospital, the patient rapidly deteriorated, developing respiratory failure, cardiogenic shock and subsequent cardiovascular collapse due to further exacerbation of the catecholamine crisis caused by a combination of opiates and intravenous corticosteroid. An echocardiogram revealed left ventricular apical hypokinesia and ballooning, with an estimated left ventricular ejection fraction of 10–15%. Herein, we outline the early stabilisation period, preoperative optimisation and intraoperative management, providing anecdotal guidance for the management of this rare life-threatening complication of PC.
Learning points:
-
A diagnosis of phaeochromocytoma should be considered in patients presenting with acute cardiomyopathy or cardiogenic shock without a clear ischaemic or valvular aetiology.
-
Catecholamine crisis is a life-threatening medical emergency that requires cross-disciplinary expertise and management to ensure the best clinical outcome.
-
After initial resuscitation, treatment of acute catecholamine-induced stress cardiomyopathy requires careful introduction of alpha-blockade followed by beta-blockade if necessary to manage β-receptor-mediated tachycardia.
-
Prolonged α-adrenergic receptor stimulation by high levels of circulating catecholamines precipitates arterial vasoconstriction and intravascular volume contraction, which can further exacerbate hypotension. Invasive pressure monitoring can aid management of intravascular volume in these complex patients.
Search for other papers by Run Yu in
Google Scholar
PubMed
Search for other papers by Danielle Sharaga in
Google Scholar
PubMed
Search for other papers by Christopher Donner in
Google Scholar
PubMed
Search for other papers by M Fernando Palma Diaz in
Google Scholar
PubMed
Search for other papers by Masha J Livhits in
Google Scholar
PubMed
Search for other papers by Michael W Yeh in
Google Scholar
PubMed
Summary
Pheochromocytomatosis, a very rare form of pheochromocytoma recurrence, refers to new, multiple, and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma. We here report a case of pheochromocytomatosis in a 70-year-old female. At age 64 years, she was diagnosed with a 6-cm right pheochromocytoma. She underwent laparoscopic right adrenalectomy, during which the tumor capsule was ruptured. At age 67 years, CT of abdomen did not detect recurrence. At age 69 years, she began experiencing episodes of headache and diaphoresis. At age 70 years, biochemical markers of pheochromocytoma became elevated with normal calcitonin level. CT revealed multiple nodules of various sizes in the right adrenal fossa, some of which were positive on metaiodobenzylguanidine (MIBG) scan. She underwent open resection of pheochromocytomatosis. Histological examination confirmed numerous pheochromocytomas ranging 0.1–1.2 cm in size. Next-generation sequencing of a panel of genes found a novel heterozygous germline c.570delC mutation in TMEM127, one of the genes that, if mutated, confers susceptibility to syndromic pheochromocytoma. Molecular analysis showed that the c.570delC mutation is likely pathogenic. Our case highlights the typical presentation of pheochromocytomatosis, a rare complication of adrenalectomy for pheochromocytoma. Previous cases and ours collectively demonstrate that tumor capsule rupture during adrenalectomy is a risk factor for pheochromocytomatosis. We also report a novel TMEM127 mutation in this case.
Learning points:
-
Pheochromocytomatosis is a very rare form of pheochromocytoma recurrence.
-
Pheochromocytomatosis refers to new, multiple and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma.
-
Tumor capsule rupture during adrenalectomy predisposes a patient to develop pheochromocytomatosis.
-
Surgical resection of the multiple tumors of pheochromocytomatosis is recommended.
-
Pheochromocytoma recurrence should prompt genetic testing for syndromic pheochromocytoma.
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.
Search for other papers by Rowena Speak in
Google Scholar
PubMed
Search for other papers by Jackie Cook in
Google Scholar
PubMed
Search for other papers by Barney Harrison in
Google Scholar
PubMed
Endocrinology
Search for other papers by John Newell-Price in
Google Scholar
PubMed
Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of phaeochromocytoma that screening for this latter complication has been called to question. Patients with other RET mutations are at higher risk of younger age onset phaeochromocytoma if they also possess other RET polymorphisms (L769L, S836S, G691S and S904S), but there are no similar data for patients with 609 mutations. We investigated the unusual phenotypic presentation in a family with MEN2A due to a C609Y mutation in RET. Sanger sequencing of the entire RET-coding region and exon–intron boundaries was performed. Five family members were C609Y mutation positive: 3/5 initially presented with phaeochromocytoma, but only 1/5 had MTC. The index case aged 73 years had no evidence of MTC, but presented with phaeochromocytoma. Family members also possessed the G691S and S904S RET polymorphisms. We illustrate a high penetrance of phaeochromocytoma and low penetrance of MTC in patients with a RET C609Y mutation and polymorphisms G691S and S904S. These data highlight the need for life-long screening for the complications of MEN2A in these patients and support the role for the screening of RET polymorphisms for the purposes of risk stratification.
Learning points:
-
C609Y RET mutations may be associated with a life-long risk of phaeochromocytoma indicating the importance of life-long screening for this condition in patients with MEN2A.
-
C609Y RET mutations may be associated with a lower risk of MTC than often quoted, questioning the need for early prophylactic thyroid surgery discussion at the age of 5 years.
-
There may be a role for the routine screening of RET polymorphisms, and this is greatly facilitated by the increasing ease of access to next-generation sequencing.
Search for other papers by Elise Flynn in
Google Scholar
PubMed
University of Melbourne, Parkville, Victoria, Australia
Search for other papers by Sara Baqar in
Google Scholar
PubMed
Search for other papers by Dorothy Liu in
Google Scholar
PubMed
University of Melbourne, Parkville, Victoria, Australia
Search for other papers by Elif I Ekinci in
Google Scholar
PubMed
Search for other papers by Stephen Farrell in
Google Scholar
PubMed
University of Melbourne, Parkville, Victoria, Australia
Search for other papers by Jeffrey D Zajac in
Google Scholar
PubMed
Search for other papers by Mario De Luise in
Google Scholar
PubMed
University of Melbourne, Parkville, Victoria, Australia
Search for other papers by Ego Seeman in
Google Scholar
PubMed
Summary
ACTH-secreting phaeochromocytoma (ASP) is a rare cause of ACTH-dependent Cushing’s syndrome (CS). We report the case of a 63-year-old female presenting with CS secondary to an ASP complicated by bowel perforation. This case report highlights ASP as an uncommon but important cause of ectopic ACTH secretion (EAS). There have been 29 cases of ASP, all of which were unilateral and benign, but associated with significant complications. Patients presenting with ASP have the potential for cure with unilateral adrenalectomy. Given this promising prognosis if recognised, ASP should be considered in the diagnostic workup of ACTH-dependent CS. As this case demonstrates, gastrointestinal complications can arise from severe hypercortisolaemia associated with CS. Early medical and surgical intervention is imperative as mortality approaches 50% once bowel perforation occurs.
Learning points
-
Consider phaeochromocytoma in the diagnostic workup of ACTH-dependent CS; screen with plasma metanephrines or urinary catecholamines.
-
Serial screening may be required if ACTH-secreting phaeochromocytoma is suspected, as absolute levels can be misleading.
-
Early catecholamine receptor blockade and adrenal synthesis blockade may avoid the need for rescue bilateral adrenalectomy in ACTH-secreting phaeochromocytoma.
-
Consider early medical or surgical management when gastrointestinal features are present in patients with CS, as bowel perforation due to severe hypercortisolaemia can occur and is associated with significant mortality.
Search for other papers by Stephanie Teasdale in
Google Scholar
PubMed
Search for other papers by Elham Reda in
Google Scholar
PubMed
Summary
We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1 (NF1). One had an adrenergic phenotype. The other had a more noradrenergic phenotype. Both had large primary tumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, which has been linked with malignancy even in non-SDHB phaeochromocytomas.
Learning points
-
Phaeochromocytoma can have varied clinical presentations.
-
Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma.
-
The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.
Search for other papers by Annika Sjoeholm in
Google Scholar
PubMed
Search for other papers by Cassandra Li in
Google Scholar
PubMed
Search for other papers by Chaey Leem in
Google Scholar
PubMed
Search for other papers by Aiden Lee in
Google Scholar
PubMed
Search for other papers by Maria P Stack in
Google Scholar
PubMed
Search for other papers by Paul L Hofman in
Google Scholar
PubMed
Paediatric Endocrinology, Southern District Health Board, Dunedin, New Zealand
Search for other papers by Benjamin J Wheeler in
Google Scholar
PubMed
Summary
Phaeochromocytomas are a rare clinical entity, with dual hormone-secreting lesions particularly uncommon, seen in <1%. ACTH is the most common hormone co-produced, and is potentially lethal if not diagnosed. We present the case of a previously well 10-year-old boy, who presented acutely with a hypertensive crisis and was found to have a unilateral, non-syndromic phaeochromocytoma. Medical stabilization of his hypertension was challenging, and took 3 weeks to achieve, before proceeding to unilateral adrenalectomy. Post-operatively the child experienced severe fatigue and was subsequently confirmed to have adrenal insufficiency. He improved markedly with hydrocortisone replacement therapy, which is ongoing 6 months post-operatively. In retrospect this likely represents unrecognized, sub-clinical ACTH-dependent Cushing's syndrome secondary to an ACTH/or precursor dual-hormone secreting phaeochromocytoma. At follow-up, his hypertension had resolved, there was no biochemical evidence of recurrence of the phaeochromocytoma, and genetic analysis was indicative of a sporadic lesion.
Learning points
-
Dual hormone secreting phaeochromocytomas with ACTH/or a precursor may cause secondary adrenal insufficiency following surgical removal.
-
The concurrent features of Cushing's syndrome can be mild and easily overlooked presenting diagnostic and management pitfalls.
-
As concomitant syndromes of hormone excess are rare in phaeochromocytomas; the diagnosis requires a high index of suspicion.
-
Serial/diurnal cortisol levels, ACTH measurement +/− low dose dexamethasone suppression (when clinically stable, appropriate adrenergic blockade in place, and well supervised), can all be considered as needed.
Search for other papers by N Atapattu in
Google Scholar
PubMed
Search for other papers by K A C P Imalke in
Google Scholar
PubMed
Search for other papers by M Madarasinghe in
Google Scholar
PubMed
Search for other papers by A Lamahewage in
Google Scholar
PubMed
Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
Search for other papers by K S H de Silva in
Google Scholar
PubMed
Summary
Children rarely present with phaeochromocytoma. Their presentation differs from that of adults. The classic triad of sweating, headache and palpitation may not always present in children with phaeochromocytoma. In this study, we present a 6-year-old girl who came to us with polyuria and polydipsia for evaluation of suspected diabetes insipidus. She gave a clear history of increased sweating in the recent past. On clinical examination, she was noted to have high blood pressure. Subsequent investigations revealed a phaeochromocytoma. Her polyuria and hypertension resolved immediately after the surgery. We did not have the facilities to arrange for genetic tests; however, the patient and the family members are under follow-up for other associated conditions.
Learning points
-
Polyuria and polydipsia are rare symptoms of phaeochromocytoma.
-
Complete physical examination prevented unnecessary investigations for polyuria and led to a correct diagnosis.
-
Classic features are not always necessary for diagnostic evaluation of rare diseases.