Genetics, prevalence, screening and confirmation of primary aldosteronism: a position statement and consensus of the Working Group on Endocrine Hypertension of The European Society of Hypertension ∗

Mulatero, Paolo; Monticone, Silvia; Deinum, Jaap; Amar, Laurence; Prejbisz, Aleksander; Zennaro, Maria‐Christina; Beuschlein, Felix; Rossi, Gian Paolo; Nishikawa, Tetsuo; Morganti, Alberto; Seccia, Teresa Maria; Lin, Yen-Hung; Fallo, Francesco; Widimský, Jiří

doi:10.1097/hjh.0000000000002510

Cited by 201 publications

(211 citation statements)

References 81 publications

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“…Based on the applied diagnostic and statistical analyses we found a good diagnostic performance with the area under curves of 0.86 and 0.83, respectively. Since the diagnostic performance of the currently recommended selection criteria for EHT screening—such as young age at diagnosis or high grade or resistant hypertension ( 14 , 15 , 29 )—is not available, a direct comparison with current approaches is not possible. However, considering only the prevalence of PA, as the most common EHT of up to 23% in patients with uncontrolled hypertension, our preselection approach might be more selective in identifying EHT cases, with a specificity of up to 45% while maintaining a reasonably high sensitivity of 80% ( Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Based on these data, it will be interesting in future studies to test the ability of metabolomics as diagnostic tool to identify a specific EHT entity that would target further baseline or functional tests towards a specific disease. Ideally, this would also decrease the likelihood of pitfalls of undirected diagnostic approaches that are based on comorbidities or medication ( 15 , 29 , 49 ).…”

Section: Discussionmentioning

confidence: 99%

“…Patients aged 18 to 75 years were included if diagnosed with PHT or EHT, in specific PA (including aldosterone-producing adenoma and bilateral adrenal hyperplasia), hormonally active PPGL, and CS (adrenal and pituitary). The diagnosis (PHT, PA, PPGL) was made according to the current guidelines for screening and management of the specific diseases ( 14 , 15 , 27-29 ). The diagnosis of PHT also required the exclusion of EHT and other secondary causes (renal disease, pharmacological cause, and obstructive sleep apnea syndrome) as well as the exclusion of patients with low-renin hypertension.…”

Section: Methodsmentioning

confidence: 99%

“…In addition to the lack of awareness for EHT, another reason that hampers the implementation of widespread screening approaches is based on the lack of resources. Considering the current recommendations, 50% of patients with arterial hypertension would be eligible for screening ( 14 , 15 ), a number of patients that widely exceeds the available number of experts in this field. Therefore, it is important to focus on new strategies of preselecting patients for further referral to experts, for example by developing new prescreening tools and methods.…”

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confidence: 99%

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Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension

Erlic

Reel

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Identification of patients with endocrine forms of hypertension (EHT) (primary hyperaldosteronism [PA], pheochromocytoma/paraganglioma [PPGL] and Cushing syndrome [CS]) provides the basis to implement individualized therapeutic strategies. Targeted metabolomics (TM) have revealed promising results in profiling cardiovascular diseases and endocrine conditions associated with hypertension. Objective Use TM to identify distinct metabolic patterns between primary hypertension (PHT) and EHT and test its discriminating ability. Design Retrospective analyses of PHT and EHT patients from a European multicentre study (ENSAT-HT). TM was performed on stored blood samples using liquid chromatography mass spectrometry. To identify discriminating metabolites a “classical approach” (CA) (performing a series of univariate and multivariate analyses) and a “machine learning approach” (MLA) (using Random Forest) were used. Patients The study included 282 adult patients (52% female; mean age 49 years) with proven PHT (n=59) and EHT (n=223 with 40 CS, 107 PA and 76 PPGL), respectively. Results From 155 metabolites eligible for statistical analyses, 31 were identified discriminating between PHT and EHT using the CA and 27 using the MLA, of which 15 metabolites (C9, C16, C16:1, C18:1, C18:2, arginine, aspartate, glutamate, ornithine, spermidine, lysoPCaC16:0, lysoPCaC20:4, lysoPCaC24:0, PCaeC42:0, SM C18:1, SM C20:2) were found by both approaches. The ROC curve built on the top 15 metabolites from the CA provided an area under the curve (AUC) of 0.86, which was similar to the performance of the 15 metabolites from MLA (AUC 0.83). Conclusions TM identifies distinct metabolic pattern between PHT and EHT providing promising discriminating performance.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

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Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension

Erlic

Reel

et al. 2020

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…All the included patients were affected by arterial hypertension, diagnosed according with the European Society of Cardiology/European Society of Hypertension (ESC/ESH) guideline 22,23 ; diagnosis of EH was made after the exclusion of all the main secondary forms of arterial hypertension (including hypercortisolism, pheochromocytoma, hyperthyroidism and reno‐vascular hypertension), while patients with PA were included following a confirmed diagnosis according to the Endocrine Society guideline and the recent ESH consensus 24‐26 . The only exclusion criterion for EH cohort was treatment with MR antagonists at recruitment or at follow‐up.…”

Section: Methodsmentioning

confidence: 99%

Quality of life in primary aldosteronism: A prospective observational study

Buffolo

Cavaglià

Burrello

et al. 2020

Eur J Clin Investigation

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Background Previous studies suggested that patients affected by primary aldosteronism (PA) have impaired quality of life (QOL) compared to the general population, but a direct comparison with patients affected by essential hypertension (EH) has never been performed. The aim of the study was to compare the QOL of patients affected by PA to the QOL of patients affected by EH. Material and methods We designed a prospective observational study comparing the QOL of patients with PA and carefully matched patients with EH before and after treatment. We recruited 70 patients with PA and 70 patients with EH, matched for age, sex, blood pressure levels and intensity of antihypertensive treatment. We assessed QOL at baseline and after specific treatment for PA or after optimization of medical therapy for patients with EH. Results Patients with PA displayed impaired QOL compared with the general healthy population, but similar to patients with EH. Both laparoscopic adrenalectomy and treatment with mineralocorticoid receptor antagonist allowed an improvement of QOL in patients with PA, that was more pronounced after surgical treatment. Optimization of blood pressure control by implementation of antihypertensive treatment (without MR antagonists) allowed a minimal improvement in only one of eight domains in patients with EH. Conclusions Patients with PA have impaired QOL, which is likely caused by uncontrolled hypertension and the effects of intensive antihypertensive treatment. Surgical and medical treatment of PA allows a significant improvement of QOL, by amelioration of blood pressure control and, after surgical treatment, by reduction of antihypertensive treatment.

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Evaluation of a Best-Practice Advisory for Primary Aldosteronism Screening

Charoensri,

Bashaw,

Dehmlow

et al. 2024

JAMA Intern Med

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ImportancePrimary aldosteronism (PA) is a common cause of secondary hypertension and an independent risk factor for cardiovascular morbidity and mortality. Fewer than 2% to 4% of patients at risk are evaluated for PA.ObjectiveTo develop and evaluate an electronic health record best-practice advisory (BPA) that assists with PA screening.Design, Setting, and ParticipantsThis prospective quality improvement study was conducted at academic center outpatient clinics. Data analysis was performed between February and June 2023 and included adults with hypertension and at least 1 of the following: 4 or more current antihypertensive medications; hypokalemia; age younger than 35 years; or adrenal nodule(s). Patients previously tested for PA were excluded.ExposureA noninterruptive BPA was developed to trigger for PA screening candidates seen in outpatient setting by clinicians who treat hypertension. The BPA included an order set for PA screening and a link to results interpretation guidance.Main Outcomes and Measures(1) The number of PA screening candidates identified by the BPA between October 1, 2021, and December 31, 2022; (2) the rates of PA screening; and (3) the BPA use patterns, stratified by physician specialty were assessed.ResultsOver 15 months, the BPA identified 14 603 unique candidates (mean [SD] age, 65.5 [16.9] years; 7300 women [49.9%]; 371 [2.5%] Asian, 2383 [16.3%] Black, and 11 225 [76.9%] White individuals) for PA screening, including 7028 (48.1%) with treatment-resistant hypertension, 6351 (43.5%) with hypokalemia, 1537 (10.5%) younger than 35 years, and 445 (3.1%) with adrenal nodule(s). In total, 2040 patients (14.0%) received orders for PA screening. Of these, 1439 patients (70.5%) completed the recommended screening within the system, and 250 (17.4%) had positive screening results. Most screening orders were placed by internists (40.0%) and family medicine physicians (28.1%). Family practitioners (80.3%) and internists (68.9%) placed most orders via the embedded order set, while specialists placed most orders (83.0%-95.4%) outside the BPA. Patients who received screening were younger and included more women and Black patients than those not screened. The likelihood of screening was higher among patients with obesity and dyslipidemia and lower in those with chronic kidney disease and established cardiovascular complications.Conclusions and RelevanceThe study results suggest that noninterruptive BPAs are potentially promising PA screening-assistance tools, particularly among primary care physicians. Combined with artificial intelligence algorithms that optimize the detection yield, refined BPAs may contribute to personalized hypertension care.

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Genetics, prevalence, screening and confirmation of primary aldosteronism: a position statement and consensus of the Working Group on Endocrine Hypertension of The European Society of Hypertension ∗

Cited by 201 publications

References 81 publications

Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension

Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension

Quality of life in primary aldosteronism: A prospective observational study

Evaluation of a Best-Practice Advisory for Primary Aldosteronism Screening

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