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Fulltext An audit of management of patients with borderline increased plasma-free metanephrines

Anas SS, Vasikaran SD

Ann. Clin. Biochem., 2010 Nov;47(Pt 6):554-8.
PMID: 20926470 DOI: 10.1258/acb.2010.010131

BACKGROUND: Measurement of plasma-free metanephrine plus normetanephrine (PFM) is the best screening test for phaeochromocytoma. While clearly raised levels are diagnostic, borderline increases may be associated with factors such as stress and medications, and should prompt a repeat study after interfering factors are withdrawn.
METHODS: PFM results reported by a teaching hospital laboratory over a 12-month period were extracted from the laboratory information system. All borderline raised results were examined for a subsequent repeat test (as recommended by attached interpretative comment) and those not repeated were followed up by examination of case-notes or questionnaires to doctors.
RESULTS: Of 111 patients with borderline increased PFM which did not normalize on repeat measurement, 33 were from the hospital and 78 from outside locations. Hospital notes for 27 out of 33 hospital-patients (82%) could be reviewed, and 49 completed questionnaires (63% of 78 sent out) were received from outside locations. Of these 76 patients thus followed up, the test was not repeated in 55 (72%) cases with borderline increased PFM. Of 10 patients with an adrenal mass and borderline PFM, only three had PFM repeated. Of another nine patients with undetermined final diagnosis and borderline PFM, only three had the test repeated.
CONCLUSION: Seventy-two per cent of borderline increased PFM results were not followed up with appropriate repeat testing, potentially leading to missed detection of phaeochromocytoma. A stronger interpretative comment may encourage appropriate repeat testing in more cases with borderline increased PFM and suspected phaeochromocytoma.

Matched MeSH terms: Pheochromocytoma/diagnosis
Screening for phaeochromocytoma in patients with acute cerebrovascular disease: Is it necessary?

Mohamed Zainuddin N, Sthaneshwar P, Ratnasingam J

Malays J Pathol, 2020 Aug;42(2):203-207.
PMID: 32860372

INTRODUCTION: Phaeochromocytoma may present with uncontrolled hypertension leading to haemorrhagic stroke (HS), ischaemic stroke (IS) and transient ischaemic attack (TIA). False elevation in the levels of CATS/ METS has been reported in acute cerebrovascular disease. Our aim was to analyse the frequency and pattern of elevations of CATS/METS in patients with acute cerebrovascular disease and to determine associated factors.
MATERIALS AND METHODS: This is a retrospective study of 112 samples of CATS/ METS received by the laboratory over a two-year period, from patients with acute cerebrovascular disease. CATS/METS were measured using LC/MS/MS method. Clinical details and CATS/METS level were obtained from the database. Mann-Whitney U test and Kruskal Wallis test were used for statistical analysis. These statistical analyses were performed using SPSS v.20.0 (IBM Corp., Armonk, NY, USA).
RESULTS: Of the 112 patients, 39% had HS, 54% had IS and 7% had TIA. A total of 29% of patients had elevated CATS/ METS. Elevated levels of CATS/METS were noted in 41% and 25% of HS and IS patients, respectively (p=0.53). Median norepinephrine, epinephrine and metanephrine levels in HS were significantly higher than IS (p< 0.05). Systolic blood pressure was higher in those who had elevated CATS/ METS (p=0.04). Only for two patients with elevated CATS/METS repeat testing was performed. Age, diastolic blood pressure and the time of sample collection in relation to the presentation, for CATS/METS were not significantly different between groups that had elevated levels of CATS/ METS versus those who did not.
CONCLUSION: We noted that CATS/METS were elevated in one-third of patients, especially in patients with high systolic blood pressure. Increase in CATS/METS should be appropriately followed up with repeat testing. Since false elevation in CATS/METS has been reported in cerebrovascular disease, screening for phaeochromocytoma is best deferred for a month.

Matched MeSH terms: Pheochromocytoma/diagnosis*
The challenge of improving the diagnostic yield from metanephrine testing in suspected phaeochromocytoma and paraganglioma

Samsudin I, Page MM, Hoad K, Chubb P, Gillett M, Glendenning P, et al.

Ann. Clin. Biochem., 2018 Nov;55(6):679-684.
PMID: 29660998 DOI: 10.1177/0004563218774590

Background Plasma-free metanephrines (PFM) or urinary fractionated metanephrines (UFM) are the preferred biochemical tests for the diagnosis of phaeochromocytoma and paraganglioma (PPGL). Borderline increased results should be followed up to either exclude or confirm diagnosis. Methods We extracted all PFM and UFM results reported by our laboratory over a six-month period from the laboratory information system. We categorized patients with borderline increased results according to whether follow-up testing had been performed as suggested in the initial laboratory report. Questionnaires were then sent to all requesting doctors and medical notes reviewed where available. Results Two hundred and four patients with borderline increased PFM or UFM were identified. Sixty-five (38.5%) of 169 patients with borderline increased PFM had a repeat test out of which 36 were normal and 29 did not normalize. Of 35 patients with borderline increased UFM, 17 (48.6%) had subsequent PFM measurement, out of which 15 were normal. Questionnaires were returned to 106 (52%) patients. Of these, the most frequent indication for testing was hypertension ( n = 50); 15 patients had an incidental adrenal mass and two of these patients were diagnosed with a phaeochromocytoma. Conclusion Only 38% of patients with borderline increased PFM had a repeat PFM measurement. This was not significantly higher when compared with the 28% in a previous audit that we reported in 2010 ( P = 0.10). Forty-nine per cent of patients with a borderline increased UFM had a repeat UFM or PFM measurement. There remains a substantial possibility of missed detection of PPGL.

Matched MeSH terms: Pheochromocytoma/diagnosis*
Fulltext Phaeochromocytoma of the urinary bladder

Naqiyah I, Rohaizak M, Meah FA, Nazri MJ, Sundram M, Amram AR

Singapore Med J, 2005 Jul;46(7):344-6.
PMID: 15968447

The occurrence of urinary bladder paragangliomas is rare. A 12-year-old Chinese girl who presented with history of blurring of vision was found to have grade IV hypertensive retinopathy. Investigations revealed a phaeochromocytoma on the posterior wall of the urinary bladder. A partial cystectomy with right ureter reimplantation was undertaken and her hypertension was promptly controlled. The diagnosis and management of this rare tumour is discussed.

Matched MeSH terms: Pheochromocytoma/diagnosis
Fulltext A rare case of Von Hippel Lindau disease

Abdul Ghani R, Norazmi MK, Norlaila M

Med J Malaysia, 2006 Jun;61(2):254-7.
PMID: 16898326 MyJurnal

Pheochromocytoma is a rare catecholamine-secreting tumour typically arising within the adrenal medulla. It may occur sporadically or be associated as part of a tumour syndrome including Von Hippel Lindau (VHL), Multiple Endocrine Neoplasia (MEN) 2 and Neurofibromatosis Type 1. VHL is associated with multi-organ involvement of benign and malignant tumours characterized by the presence of retinal angiomas, hemangioblastomas of the cerebellum and spinal cord, renal cell carcinomas, pheochromocytomas and other cystic lesions in the kidneys, pancreas, and epididymis. It is a rare disorder with prevalence estimated at 2-3 per 100,000. This case report describes a 37 years old Chinese gentleman who presented to our institution for further management of bilateral pheochromocytoma and retinal angioblastoma with problems of duodenal ulcer and anaemia. There was no family history of similar problems. With these features the criteria for the diagnosis of von Hippel Lindau disease was established.

Matched MeSH terms: Pheochromocytoma/diagnosis
Uncontrolled hypertension, palpitation and sweating in young female - A rare cause

Sandeep HV, Sarat KS, Ng LT

Med J Malaysia, 2016 02;71(1):39-40.
PMID: 27130746

Extra-adrenal /retroperitoneal paraganglioma is a rare cause of hypertension in young with increased incidence of metastasis as compared to adrenal pheochromocytoma. We present a case of a young female with history of headache, nausea/vomiting, palpitations, uncontrolled hypertension, heat intolerance and diaphoresis. The 24-hour urine catecholamine levels were elevated. Clinical diagnosis of pheochromocytoma was made and further evaluation with Computed Tomography (CT) scan of the adrenals revealed extradrenal para-aortic retroperitoneal mass in keeping with paraganglioma. Gallium-68 DOTATE positron emission tomography-CT scan (PET-CT) confirmed the diagnosis without evidence of metastatic foci.

Matched MeSH terms: Pheochromocytoma/diagnosis*
Fulltext Phaeochromocytoma during pregnancy: ultrasound and MRI appearances

Puvaneswary M, Beckhouse M

Med J Malaysia, 1992 Mar;47(1):81-5.
PMID: 1387457
Matched MeSH terms: Pheochromocytoma/diagnosis*
Fulltext Ectopic adrenocorticotrophic hormone syndrome (EAS) with phaeochromocytoma: a challenging endocrine case with a happy ending

Wan Muhamad Hatta SF, Lekkakou L, Viswananth A, Buch H

BMJ Case Rep, 2019 Aug 20;12(8).
PMID: 31434676 DOI: 10.1136/bcr-2019-230636

Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rarely caused by a phaeochromocytoma. We report a case of a 51-year-old woman with an 8-year history of severe constipation who underwent extensive investigations including gastroscopy, colonoscopy, ultrasonography, colonic transit studies and isotope defeacography, which did not reveal any pathology other than slow colonic transit time. The unifying diagnosis of ectopic ACTH and phaeochromocytoma was made after the case was initially investigated for an adrenal incidentaloma. Multiple challenges had to be overcome prior to surgery for the functioning adrenal adenoma including management of refractory hypokalaemia, poor nutritional status, persistent hyperglycaemia, labile blood pressure and florid hypercortisolaemia driving the metabolic derangements. She underwent an uneventful left-sided adrenalectomy and required no medication thereafter with normal blood pressure, blood glucose and serum potassium and resolution of constipation and abdominal symptoms. In conclusion, patients with EAS related to phaeochromocytoma are rare and present with distinctive diagnostic and management challenges but if diagnosed successfully and managed intensively, they are curable.

Matched MeSH terms: Pheochromocytoma/diagnosis*
Cystic pheochromocytoma mimicking a malignant pancreatic cyst

Lee J, Raman K, Sachithanandan S

Gastrointest Endosc, 2011 Sep;74(3):712-3.
PMID: 21111418 DOI: 10.1016/j.gie.2010.09.027
Matched MeSH terms: Pheochromocytoma/diagnosis*
Fulltext Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated?

Azarisman SM, Nor Azmi K

Singapore Med J, 2007 Aug;48(8):779-82.
PMID: 17657389

A 39-year-old man was diagnosed with von Hippel-Lindau syndrome, which was associated with retinal haemangioblastoma, cervical cord haemangioblastoma and bilateral renal cell carcinoma. He subsequently underwent an arterial embolisation and cervical laminectomy, following a spinal angiogram of the cervical lesion. He also had a right radical nephrectomy, with no perioperative complications. However, on admission for the left radical nephrectomy, he was noted to have preoperative hypertension. Further investigation revealed an enlarged left adrenal gland on abdominal computed tomography scan and raised urinary catecholamines. We discuss the risk of renal cell carcinoma and phaeochromocytoma arising concomitantly in von Hippel-Lindau syndrome, and how best to investigate and manage them.

Matched MeSH terms: Pheochromocytoma/diagnosis
Epinephrine-secreting pheochromocytoma in a normotensive woman with adrenal incidentaloma

Sukor N, Saidin R, Kamaruddin NA

South. Med. J., 2007 Jan;100(1):73-4.
PMID: 17269532

Pheochromocytomas are rare neuroendocrine tumors that produce, metabolize, and usually secrete catecholamines. Although hypertension is a common presenting feature of pheochromocytoma, the tumors occur (or are present) in only 0.1% of patients with hypertension. The variability of symptoms and rarity of occurrence render these tumors difficult to diagnose; many are discovered incidentally during radiological examination or at autopsy. A patient is presented with a pheochromocytoma that was discovered incidentally when she presented with abdominal pain and a normal blood pressure.

Matched MeSH terms: Pheochromocytoma/diagnosis
The surgical treatment of adrenal diseases

Meah FA, Abdullah T, Jasmi AY, Hisham AN, Tan TT, Khalid BA, et al.

Ann Acad Med Singap, 1996 Mar;25(2):251-4.
PMID: 8799016

Between January 1978 to December 1993, 130 cases of adrenal diseases were diagnosed and surgically treated at the National University of Malaysia. They were 58 cases (44.6%) of Conn's syndrome, 40 cases (30.7%) of Cushing's syndrome, 20 cases (15.3%) of phaeochromocytoma and 12 cases (9.2%) of adrenocortical carcinoma (ACC). The commonest cause of Conn's syndrome was an adenoma (96.5%) which affected the left gland four times more than the right gland. Cushing's syndrome was caused by adrenocortical adenoma (32.5%), diffuse bilateral adrenal hyperplasia (40.0%), pigmented macronodular hyperplasia (20.0%) and adrenal carcinoma (7.5%). Twenty-five percent of the phaeochromocytomas were extraadrenal in origin arising mainly from the abdominal sympathetic chain. More than 50% of ACCs were non-functioning tumours. Fifty percent of the patients with ACC had inoperable tumours. The prognosis was poor even with adjuvant chemoradiotherapy. The main surgical approach was the anterior transabdominal route. There was no operative mortality or morbidity in all operated cases.

Matched MeSH terms: Pheochromocytoma/diagnosis
Unusual presentation of pheochromocytoma with ischemic sigmoid colitis and stenosis

Tan F, Thai AC, Cheah WK, Mukherjee JJ

South. Med. J., 2009 Oct;102(10):1068-70.
PMID: 19738530 DOI: 10.1097/SMJ.0b013e3181b571e6

A 45-year-old woman with poorly controlled hypertension and diabetes mellitus presented with left iliac fossa pain, constipation alternating with diarrhea, and weight loss. She had been diagnosed with idiopathic cardiomyopathy five years previously. Echocardiogram had shown a left ventricular ejection fraction (LVEF) of 35%; coronary angiogram was normal. Colonoscopy revealed sigmoid colitis with stenosis. Abdominal computed tomography revealed a 5 cm right adrenal tumor. Twenty-four hour urinary free catecholamines and fractionated metanephrine excretion values were elevated, confirming pheochromocytoma. Her colitis resolved after one month of adrenergic blockade. Repeat echocardiogram showed improvement of LVEF to 65%. After laparoscopic right adrenalectomy, the patient's hypertension resolved, and diabetic control improved. Timely management avoided further morbidity and potential mortality in our patient.

Matched MeSH terms: Pheochromocytoma/diagnosis*