Multiple endocrine neoplasia type 2b: long-term follow-up of a case

Multiple endocrine neoplasia type 2b is a rare inherited syndrome which comprises the association of medullary thyroid carcinoma, phaeochromocytoma, widespread neuromatous proliferation and a characteristic body habitus. In this report we present the late clinical course and autopsy findings of the first patient with this syndrome described in Australia. At presentation she was found to have a right adrenal phaeochromocytoma and medullary thyroid carcinoma which were resected in separate operations. No clinical or biochemical evidence of residual medullary thyroid carcinoma was identified in life. However, in spite of serial vanillylmandelic acid estimations, which showed normal or only mildly elevated levels, and normal results of urinary catecholamine studies, a left adrenal phaeochromocytoma was identified in a metaiodobenzylguanidine (MIBG) study performed 14 years after presentation. Her late clinical course was dominated by progressive dysphagia, intestinal dysmotility and megacolon associated with unrelenting malnutrition. After her death due to an intracerebral haemorrhage, an autopsy confirmed the presence of a left adrenal phaeochromocytoma and revealed diffuse intestinal ganglioneuromatosis to be the cause of her intestinal dysmotility. No residual medullary thyroid carcinoma was found. This case emphasises the propensity for multiple endocrine tumours in these patients and highlights the potentially significant role of intestinal ganglioneuromatosis in the natural history of this condition.     

Phaeochromocytoma with nocturnal elevation of blood pressure

A 47-year-old woman with phaeochromocytoma showed blood pressure changes characterized by the regular appearance of hypertension at night. The urinary excretion of catecholamines and their metabolites showed augmentation roughly parallel with the elevation of the blood pressure. During normotensive periods, the urinary excretion of catecholamines and their metabolites was elevated. The findings suggested that the pressor effect of catecholamine hypersecretion was compromised to a certain degree and that the regular nocturnal appearances of hypertensive paroxysm conceivably resulted from a spontaneous cyclic augmentation of the catecholamine secretion from the tumour.     

Phaeochromocytoma unearthed by fluoxetine

Non-specific noradrenaline reuptake inhibition by high dose selective serotonin reuptake inhibitors, along with catecholamine release from phaeochromocytoma, may lead to a hypertensive paroxysm. This may unmask a clinically silent phaeochromocytoma. Hypertensive paroxysm induced by paroxetine leading to detection of phaeochromocytoma has been reported. The first patient in whom fluoxetine unmasked a phaeochromocytoma is reported.     

Paraganglioma with acute hyperamylasaemia masquerading as acute pancreatitis

Phaeochromocytomas are rare catecholamine-producing tumours. Although classically described to present with headache, diaphoresis and palpitations, they also present in unusual ways; hyperamylasaemia is one such rare presentation. We describe a man with an extra-adrenal phaeochromocytoma (paraganglioma) presenting with diaphoresis, abdominal pain and multi-organ failure. He had hyperamylasaemia of 1,087 (normal range [NR] 44-161) U/L, which mimicked acute severe pancreatitis. Serum lipase and radiographic imaging of the pancreas appeared normal, and the serial amylase levels normalised over six days upon stabilisation of his condition. 24-hour urinary metanephrines of 10,406 (NR 400-1,500) nmol/day suggested a catecholamine-secreting tumour, and metaiodobenzylguanine scintigraphy confirmed this. We postulate that amylase (of the salivary isotype) is released by hypoxic tissues when high catecholamine levels cause vasoconstriction and that fluctuating hypotension decreases organ perfusion. This case highlights the need for awareness of rare presentations of phaeochromocytomas and encourages physicians to rethink the diagnosis when investigations are inconsistent.     

The impact of recent advances in diagnostic technology on the clinical presentation of phaeochromocytoma.

OBJECTIVE: To examine the impact of recent advances in diagnostic technology on the spectrum of clinical and biochemical features of patients presenting with a new diagnosis of phaeochromocytoma. DESIGN: A retrospective review of the clinical and biochemical features of patients diagnosed by our laboratory as having phaeochromocytoma within a 27-month period up to December, 1990. Noradrenaline, adrenaline and dihydroxyphenylglycol were assayed in 24-hour urine specimens (19 patients) or plasma (1 anuric patient) by gas chromatography/mass spectrometry. SETTING: A tertiary level chemical pathology department. PATIENTS: Twenty patients with a new diagnosis of phaeochromocytoma. RESULTS: The classic, episodic adrenergic symptoms traditionally associated with phaeochromocytoma were absent in 9 of the 20 patients (45%). "Atypical" phaeochromocytoma presented as a mass on computed tomography imaging (6 patients, 30%), "phaeochromocytoma crisis" (4 patients, 20%) or family screening (1 patient, 5%). Excessive adrenaline production was found in 11 patients (55%) and six (30%) had predominantly adrenaline-secreting tumours. The urinary noradrenaline:dihydroxyphenylglycol ratio was raised in all nine patients with predominantly noradrenaline-secreting tumours but was not raised in nine out of ten patients with adrenaline-secreting phaeochromocytoma. Adrenaline excretion was significantly correlated with tumour size (r = 0.8; P less than 0.05). CONCLUSIONS: Advances in diagnostic technology, particularly specific adrenaline assays and computed tomography, have made possible the early diagnosis of patients with phaeochromocytoma presenting in ways previously thought to be uncommon. All patients with adrenal masses noted incidentally on CT scan should be investigated for phaeochromocytoma. Adrenaline-secreting tumours are common and both noradrenaline and adrenaline should be assayed in all patients investigated for phaeochromocytoma.     

Phaeochromocytoma with myocarditis managed with alpha-methyl-p-tyrosine.

A case of bilateral phaeochromocytoma with catecholamine-induced myocarditis is described. The two operations needed allowed comparison of the use of alpha-methyl-p-tyrosine alone and in conjunction with adrenergic blocks in the management of the patient. The combination of both drugs was particularly successful in the relief of symptoms and reduction of catecholamine metabolism as monitored by 4-hydroxy-3-methoxymandelic acid (HMMA) excretion. As myocarditis is a potentially fatal complication, further investigation of the combined use of alpha-methyl-p-tyrosine and adrenergic blocking drugs is suggested in the pre-operative management of patients with phaeochromocytoma.     

Recurrence of Phaeochromocytoma and Abdominal Paraganglioma After Initial Surgical Intervention

BackgroundClinical and biochemical follow up after surgery for phaeochromocytoma is essential with long term studies demonstrating recurrence frequencies between 6% and 23%.AimTo examine the characteristics and frequency of tumour recurrence in a regional endocrine referral centre, in patients with surgical resection of phaeochromocytoma (P) and abdominal paraganglioma (AP).MethodsWe identified a cohort of 52 consecutive patients who attended our Regional Endocrinology & Diabetes Centre and retrospectively reviewed their clinical, biochemical and radiological data (between 2002 and 2013). After confirmation of early post-operative remission by negative biochemical testing, tumour recurrence was defined by demonstration of catecholamine excess with confirmatory imaging.ResultsPhaeochromocytoma was confirmed histologically in all cases (43:P, 9:AP, mean-age:53years). Open adrenalectomy was performed in 20 cases and laparoscopically in 32. Hereditary phaeochromocytoma was confirmed by genetic analysis in 12 (23%) patients. Median follow up time from initial surgery was 47 months, (range: 12 - 296 months), 49 patients had no evidence of tumour recurrence at latest follow-up. Three patients (6%) demonstrated tumour development, one in a patient with VHL which occurred in a contralateral adrenal gland, one sporadic case had local recurrence, and an adrenal tumour occurred in a patient with a SDHB gene mutation who had a previous bladder tumour. After initial surgery, the tumours occurred at 8.6, 12.0 and 17.7 years respectively.ConclusionIn this study tumour development occurred in 6% of patients. Although tumour rates were low, careful and sustained clinical and biochemical follow up is advocated, as new tumour development or recurrence may occur long after the initial surgery is performed.     

Recurrence of asthma following removal of a noradrenaline-secreting phaeochromocytoma

A patient with asthma and a phaeochromocytoma is described. At about the time she was first noted to be hypertensive her asthma resolved spontaneously but bronchospasm returned with some severity when the tumour was removed. The phaeochromocytoma was of the noradrenaline secreting variety. Possible mechanisms through which this catecholamine might have produced the observed alleviation of asthma are considered.     

Lipid and lipoprotein metabolism in familial combined hyperlipidaemia during treatment of sporadic phaeochromocytoma: a case study.

Lipid metabolism was evaluated during management of phaeochromocytoma in a 41 year old non-obese post-menopausal women with familial combined hyperlipidaemia. The main effect of the excess catecholamine secretion on lipid metabolism was increased lipolytic activity, lower serum triglyceride and increased HDL cholesterol concentrations, compared with findings following removal of the tumour. Before removal of the tumour, the use of beta blockers alone led to marked deterioration of the hyperlipidaemic state, and combined alpha and beta blockade additionally led to a marked reduction in fat oxidation and lipoprotein lipase activity. Overactivity of the adrenergic system leads to changes in lipid metabolism in phaeochromocytoma. Treatment of the phaeochromocytoma may lead to worsening of hyperlipidaemia pre-existing in such individuals.     

Prognostic value of the stress response following stroke

The systemic metabolic response following intracranial vascular damage was measured in 65 consecutively seen patients (56 with cerebral infarction and nine with subarachnoid hemorrhage). Significantly (P less than .01) greater mortality and eventual disability occurred in patients excreting more than 200 microgram of urinary norepinephrine and epinephrine daily early in their acute illness. These patients also had significantly (P less than .001) elevated plasma cortisol levels; this measurement may prove useful in predicting prognosis after stroke. Cardiac abnormalities resulting from the elevated catecholamine levels may contribute to the excess mortality in those patients with an intense stress response.     

The relationship between catecholamines levels in mother and fetus, and pathogenesis of pregnancy-induced hypertension

Pregnancy inducedhypertension (PIH)isoneofthemostcommoncomplicationsinpregnancy Inrecentyears,thisdisorderhasbeenwidelyinvestigated ,yetitscausestillremainsunknown OurpurposewastostudytherelationshipbetweenpathogenesisofPIHandcatecholamine (CA )levels METHODSThenormalgestationalwomen (n =4 0 ) ,andPIHcases(116 )allvolunteeredtotakepartinourstudyatourhospital Theywereallsubjecttoacesareansection PatientswithanyotherdiseasesorobstetricalcomplicationsexceptforPIHwereexcludedfromthestudy …     

Phaeochromocytoma and acute cardiovascular death (with special reference to myocardial infarction)

The causes of death, as determined by autopsy, in 10 patients dying from the acute effects of phaeochromocytoma were myocardial infarction (five patients), left ventricular failure (two patients), cerebral haemorrhage (two patients) and circulatory collapse with malignant phaeochromocytoma (one patient). Most patients died shortly after admission during the course of a fulminant cardiovascular illness and the underlying tumour was unsuspected in eight instances. The clinical features and post-mortem cardiovascular findings are reviewed.     

Phaeochromocytoma: current concepts

The discovery of novel mutations in genes encoding succinate dehydrogenase subunits has revealed that familial phaeochromocytomas are much more common than previously thought. Genetic screening should be offered to patients with apparently sporadic phaeochromocytomas and their first-degree relatives. An increasing proportion of phaeochromocytomas present preclinically on genetic testing or as "incidentalomas" on abdominal imaging, rather than with classic symptoms and signs. Clinical suspicion should prompt measurement of plasma levels of free metanephrine or 24-hour urinary catecholamine and metanephrine levels, followed, if positive, by tumour localisation studies. With appropriate perioperative care, surgical management of phaeochromocytomas is safe and effective. Most tumours can be removed laparoscopically.     

Bilateral adrenal phaeochromocytomas associated with unilateral renal artery stenosis

A 21 year old male was discovered to be severely hypertensive. He was found to have bilateral adrenal phaeochromocytomas and a single renal artery stenosis. More than 40 cases of coexisting renal artery stenosis and phaeochromocytomas have been reported. The aetiology of renal artery stenosis in association with phaeochromocytoma maybe multifactorial and the radiographic appearances are not always clear-cut. Renin levels in this patient were elevated prior to the removal of the phaeochromocytomas but the renal vein renin ratio did not suggest that the renal artery stenosis contributed significantly to his hypertension. The patient's hypertension resolved following successful removal of the phaeochromocytomas despite persistence of the renal artery stenosis. Thus, though renin levels may be misleading in these cases, renal vein renin ratios may still be helpful in deciding on patient management.     

Giant phaeochromocytoma: Case report

A case of giant phaeochromocytoma occurring in a 47-year-old man with no signs or symptoms of catecholamine secretion is reported. Abdominal ultrasound scanning, chest X-ray, computed tomography and magnetic resonance imaging were preoperatively performed. The patient was operated through a thoracoabdominal incision and section of the left hemidiaphragm. The giant retroperitoneal mass was en-bloc resected together with the left adrenal gland. Macroscopic sectioning showed a smoothly rounded 29 x 21 x 12 cm tumour attached to a normal left adrenal gland, weighing 4050 gr. The huge size of the neoplasm, the several areas of necrosis, the size and monomorphic appearance of the cells, and the large number of mitotic figures afforded a diagnosis of malignant phaeochromocytoma.     

Role of 131I-metaiodobenzylguanidine in the localization of suspected phaeochromocytomas

Iodine-131-metaiodobenzylguanidine is a recently-developed radiopharmaceutical agent for adrenal medullary scintigraphy. Twenty-one scans with 131I-metaiodobenzylguanidine were performed in 20 adults with suspected phaeochromocytomas over a four-year period. All patients previously had undergone computed tomographic scans of the abdomen and pelvis. The computed-tomographic scans were abnormal in 14 patients (16 tumours), eight (nine tumours) of whose 131I-metaiodobenzylguanidine scans gave positive results. Both types of scan gave negative results in the remaining six patients. Among 12 patients who underwent surgery or postmortem examination, the 131I-metaiodobenzylguanidine scan correctly showed eight phaeochromocytomas; six tumours that were found on computed-tomographic scans but not on 131I-metaiodobenzylguanidine scans proved not to be phaeochromocytoma. The 131I-metaiodobenzylguanidine scan probably gave a true-positive result in an additional case (surgical confirmation was not available). None of the remaining seven patients in whom the 131I-metaiodobenzylguanidine scan gave negative results has been shown to harbour a phaeochromocytoma on extended follow-up (2.5 to four years). Iodine-131-metaiodobenzylguanidine is a highly sensitive and specific agent for the localization of phaeochromocytomas. In patients with suspected phaeochromocytomas and abnormal computed-tomographic findings, 131I-metaiodobenzylguanidine permits a non-invasive, functional evaluation of the morphological abnormalities to be made. The importance of making a biochemical diagnosis of a phaeochromocytoma before attempting localization studies is emphasized.     

Lack of uniformity in the clinical approach to the interpretation of urinary catecholamines and their metabolites

A study of the case notes from 101 of the 113 instances where at least one of the results was abnormal from the analysis of 24 hr urinary collections for noradrenaline, adrenaline, and dopamine and their metabolites 4-hydroxy-3-methoxy-mandelic acid (HMMA) and homovanillic acid (HVA) in screening for phaeochromocytomas in hospitals affiliated to the Royal College of Surgeons in Ireland Medical School from a total of 199 false positives from all sources shows that 51% had a second sample, 33% had ultra sound, 12% had a CT scan, 6% had an¹³¹I metaiodobenzylguanadine (MIBG) scan, 40% had no imaging performed and in 5% the reports were not received by the referring medical team. The 12 sets of data where case notes could not be retrieved were disregarded. Of the 22 patients with one or more biochemical value greater than twice the upper reference range, 8 had not, by our criteria had a phaeochromocytoma positively excluded. The sensitivity and specificity for phaeochromocytoma diagnosis for the free catecholamines together was 82% and 88.4%; for HMMA 60% and 95.8%; and for catecholamines and HMMA together 82% and 93.2% respectively. A protocol which includes repeat samples where results are abnormal and the appropriate use of diagnostic imaging should be systematically pursued to minimise false negative diagnoses.     

手术治疗的肾上腺疾病临床特征回顾分析

目的：分析总结手术治疗的肾上腺疾病的临床特点。方法：查阅四川大学华西医院2000-2007年入院行肾上腺手术患者的病案,对肾上腺疾病的临床特点进行回顾分析。结果：352例患者,最大径≤3 cm的肿瘤中良性肿瘤占99.2%。嗜铬细胞瘤患者患有高血压的比例为69.6%,具有特异性症状的比例是73.9%。原醛、库欣综合征以及嗜铬细胞瘤患者相关血生化检查阳性率为97.8%、97.3%、94.4%。结论：肾上腺疾病中醛固酮腺瘤的直径最小,不典型嗜铬细胞瘤是肾上腺偶发瘤鉴别诊断的重点     

肝型脂肪酸结合蛋白在重症患者急性肾损伤早期诊断中的意义

目的:探讨尿肝型脂肪酸结合蛋白(L-FABP)在重症患者急性肾损伤(AKI)中的早期诊断价值。方法:以我院收治的危重症患者为观察对象,按照阿姆斯特丹AKI诊断标准,将5d内符合诊断标准的AKI患者纳入AKI组（12例）,对照组（12例）由匹配的非AKI患者构成。每24 h收集尿标本,持续5d。ELISA法检测尿L-FA...     

糖尿病人几种有关激素测定结果的分析

本文对96例糖尿病人测定了血胰岛素、皮质醇、T_3、T_4和24h尿VMA,结果表明:糖尿病人血胰岛素Ⅰ型显著低于对照组,Ⅱ型略高于对照组。其它多种有关激素亦有相应的变化,包括皮质醇、儿茶酚胺升高,T_3、T_4降低,且Ⅰ型因胰岛素严重缺乏,血糖升高比Ⅱ型显著,其有关激素的变化亦比Ⅱ型显著。