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Endocrine Reviews Sep 2023Pheochromocytoma and paraganglioma (PPGL) require prompt consideration and efficient diagnosis and treatment to minimize associated morbidity and mortality. Once...
Pheochromocytoma and paraganglioma (PPGL) require prompt consideration and efficient diagnosis and treatment to minimize associated morbidity and mortality. Once considered, appropriate biochemical testing is key to diagnosis. Advances in understanding catecholamine metabolism have clarified why measurements of the O-methylated catecholamine metabolites rather than the catecholamines themselves are important for effective diagnosis. These metabolites, normetanephrine and metanephrine, produced respectively from norepinephrine and epinephrine, can be measured in plasma or urine, with choice according to available methods or presentation of patients. For patients with signs and symptoms of catecholamine excess, either test will invariably establish the diagnosis, whereas the plasma test provides higher sensitivity than urinary metanephrines for patients screened due to an incidentaloma or genetic predisposition, particularly for small tumors or in patients with an asymptomatic presentation. Additional measurements of plasma methoxytyramine can be important for some tumors, such as paragangliomas, and for surveillance of patients at risk of metastatic disease. Avoidance of false-positive test results is best achieved by plasma measurements with appropriate reference intervals and preanalytical precautions, including sampling blood in the fully supine position. Follow-up of positive results, including optimization of preanalytics for repeat tests or whether to proceed directly to anatomic imaging or confirmatory clonidine tests, depends on the test results, which can also suggest likely size, adrenal vs extra-adrenal location, underlying biology, or even metastatic involvement of a suspected tumor. Modern biochemical testing now makes diagnosis of PPGL relatively simple. Integration of artificial intelligence into the process should make it possible to fine-tune these advances.
Topics: Humans; Pheochromocytoma; Artificial Intelligence; Paraganglioma; Metanephrine; Adrenal Gland Neoplasms
PubMed: 36996131
DOI: 10.1210/endrev/bnad011 -
Endocrine Practice : Official Journal... Dec 2023The aim of this review was to provide a practical approach for clinicians regarding the diagnosis and management of pheochromocytomas and paragangliomas (PPGLs). (Review)
Review
OBJECTIVE
The aim of this review was to provide a practical approach for clinicians regarding the diagnosis and management of pheochromocytomas and paragangliomas (PPGLs).
METHODS
A literature search of PubMed was carried out using key words, including pheochromocytoma, paraganglioma, treatment, diagnosis, screening, and management. The discussion of diagnosis and management of PPGL is based on the evidence available from prospective studies when available and mostly from cohort studies, cross-sectional studies, and expert consensus.
RESULTS
PPGL are neuroendocrine tumors arising from the chromaffin cells of adrenal medulla and sympathetic and parasympathetic ganglia, respectively. PPGL can be localized or metastatic, and they may secrete catecholamines, causing a variety of symptoms and potentially catastrophic and lethal complications if left untreated. The rarity of these tumors along with heterogeneous clinical presentation often poses challenges for the diagnosis and management. PPGL can be associated with several familial syndromes which are important to recognize.
CONCLUSION
The last few years have witnessed an exponential growth in the knowledge around PPGL. This review aims at providing a comprehensive discussion of current concepts for clinicians regarding clinical presentation, diagnostic tools, and management strategies for PPGL.
Topics: Humans; Pheochromocytoma; Prospective Studies; Cross-Sectional Studies; Paraganglioma; Adrenal Gland Neoplasms
PubMed: 37586639
DOI: 10.1016/j.eprac.2023.07.027 -
Frontiers in Endocrinology 2023Pheochromocytoma/paraganglioma (PPGL) are neuroendocrine tumors that frequently produce and release catecholamines. Catecholamine excess can manifest in several... (Review)
Review
Pheochromocytoma/paraganglioma (PPGL) are neuroendocrine tumors that frequently produce and release catecholamines. Catecholamine excess can manifest in several cardiovascular syndromes, including cardiomyopathy. PPGL-induced cardiomyopathies occur in up to 11% of cases and are most often associated with an adrenal pheochromocytoma (90%) and rarely with a paraganglioma derived from the sympathetic ganglia (10%). PPGL-associated cardiomyopathies can be chronic or acute, with takotsubo cardiomyopathy being the most often reported. These two types of PPGL-induced cardiomyopathy seem to have different pathophysiological backgrounds. Acute catecholaminergic stress inundates myocardial β-adrenoceptors and leads to left ventricle stunning and slight histological apoptosis. In chronic cardiomyopathy, prolonged catecholamine exposure leads to extended myocardial fibrosis, inflammation, and necrosis, and ultimately it causes dilated cardiomyopathy with a low ejection fraction. Sometimes, especially in cases associated with hypertension, hypertrophic cardiomyopathy can develop. The prognosis appears to be worse in chronic cases with a higher hospital mortality rate, higher cardiogenic shock rate at initial presentation, and lower left ventricular recovery rate after surgery. Therefore, establishing the correct diagnosis at an early stage of a PPGL is essential. This mini-review summarizes current data on pathophysiological pathways of cardiac damage caused by catecholamines, the clinical presentation of PPGL-induced cardiomyopathies, and discusses treatment options.
Topics: Humans; Pheochromocytoma; Paraganglioma; Cardiomyopathies; Adrenal Gland Neoplasms; Catecholamines
PubMed: 37522121
DOI: 10.3389/fendo.2023.1204851 -
The Lancet. Diabetes & Endocrinology Dec 2023Phaeochromocytomas and paragangliomas (PPGLs) release catecholamines leading to catecholamine-induced hypertensive (CIH) crises, with blood pressure greater than or... (Review)
Review
Phaeochromocytomas and paragangliomas (PPGLs) release catecholamines leading to catecholamine-induced hypertensive (CIH) crises, with blood pressure greater than or equal to 180/120 mm Hg. CIH crises can be complicated by tachyarrhythmias, hypotension, or life-threatening target organ damage while treatment remains undefined, often requiring co-management between endocrinologists and cardiologists. Furthermore, biochemical diagnosis of a PPGL as a cause of a CIH crisis can be difficult to identify or confounded by comorbid conditions, potentially resulting in misdiagnosis. Here, we combine relevant evidence, 60 years of collective clinical experience, insights derived from assessing over 2600 patients with PPGL, and supplementary outcomes from 100 patients (treated at the National Institutes of Health) with a CIH crisis to inform diagnosis and treatment of CIH crises. Recognising that disparities exist between availability, cost, and familiarity of various agents, flexible approaches are delineated allowing for customisation, given institutional availability and provider preference. A CIH crisis and its complications are readily treatable with available drugs, with effective intervention defining an avenue for mitigating consequent morbidity and mortality in patients with PPGL.
Topics: Humans; Catecholamines; Paraganglioma; Pheochromocytoma; Blood Pressure; Adrenal Gland Neoplasms
PubMed: 37944546
DOI: 10.1016/S2213-8587(23)00256-5 -
Emergency Medicine Clinics of North... Nov 2023The adrenal glands drive physiologic homeostasis, with dysregulation in any direction causing multisystem dysfunction. Adrenal excess states include hyperaldosteronism... (Review)
Review
The adrenal glands drive physiologic homeostasis, with dysregulation in any direction causing multisystem dysfunction. Adrenal excess states include hyperaldosteronism which manifests with refractory hypertension and electrolyte abnormalities including hypernatremia and hypokalemia. Paragangliomas including pheochromocytoma can cause multisystem end-organ dysfunction due to catecholaminergic storm, which require rapid blood pressure control with phentolamine and identification of lesions amenable to surgical resection. Adrenal insufficiency states in contrast can result in hypotension and decompensation refractory to vasopressor administration, requiring adrenal supplementation via hydrocortisone.
Topics: Humans; Emergencies; Hyperaldosteronism; Hydrocortisone; Hypertension; Hypotension
PubMed: 37758424
DOI: 10.1016/j.emc.2023.06.006 -
JPMA. the Journal of the Pakistan... May 2024Fever is usually thought to be of an infectious or inflammatory etiology. In this brief communication, we explore the multifaceted connections between fever and... (Review)
Review
Fever is usually thought to be of an infectious or inflammatory etiology. In this brief communication, we explore the multifaceted connections between fever and endocrine dysfunction. Impaired resistance to infection often leads to fever in conditions like diabetes and Cushing's syndrome. Additionally, several endocrine disorders, including hyperthyroidism, subacute thyroiditis, carcinoid syndrome, and pheochromocytoma, can manifest as fever. Furthermore, fever can be an adverse effect of various endocrine treatments, such as bisphosphonates and antithyroid drugs. We refer to these scenarios as 'endocrine fever.' Increased awareness of these clinical associations can aid in prompt diagnosis and management of these conditions.
Topics: Humans; Fever; Endocrine System Diseases; Hyperthyroidism; Cushing Syndrome; Pheochromocytoma; Adrenal Gland Neoplasms; Antithyroid Agents; Diphosphonates
PubMed: 38783456
DOI: 10.47391/JPMA.24-36 -
International Journal of Molecular... Aug 2023Secondary diabetes mellitus is frequently ignored in specialized literature. In this narrative review, the main endocrinopathies accompanied by increased glycemic values... (Review)
Review
Secondary diabetes mellitus is frequently ignored in specialized literature. In this narrative review, the main endocrinopathies accompanied by increased glycemic values are identified, as well as the mechanisms by which the excess or deficiency of certain hormones impact beta cell function or insulin resistance. The main endocrinopathies (acromegaly, Cushing's syndrome, Basedow-Graves' disease, pheochromocytoma, somatostatinoma and glucagonoma) and their characteristics are described along with the impact of hormone changes on blood sugar, body mass index and other parameters associated with diabetes. The overall information regarding the complex molecular mechanisms that cause the risk of secondary diabetes and metabolic syndrome is of crucial importance in order to prevent the development of the disease and its complications and particularly to reduce the cardiovascular risk of these patients. The purpose of this study is to highlight the particular features of endocrine pathologies accompanied by an increased risk of developing diabetes, in the context of personalized therapeutic decision making. The epidemiological, physiopathological, clinical and therapeutic approaches are presented along with the importance of screening for diabetes in endocrine diseases.
Topics: Humans; Diabetes Mellitus; Metabolic Syndrome; Insulin Resistance; Acromegaly; Graves Disease; Adrenal Gland Neoplasms
PubMed: 37628857
DOI: 10.3390/ijms241612676