Dataset Information

A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy.

ABSTRACT:

Purpose

Familial hyperaldosteronism type 1 (FH-1) is a rare autosomal dominant form of primary aldosteronism, which features a marked phenotypic heterogeneity, ranging from mild to severe forms of arterial hypertension that can be complicated by stroke and cardiovascular events at a young age. As affected patients usually reach the fertile age, transmission of the disease to offspring is common. Notwithstanding this, reports of FH-1 in pregnancy are limited and there is a lack of treatment guidelines.

Methods and results

We searched the PubMed and EuropePMC databases with a PICO strategy to retrieve available information on management of FH-1 patients during pregnancy. We could identify seven relevant articles, which are herein reviewed.

Conclusion

Based on available information on pathophysiology and treatment of FH-1 in pregnancy, recommendations for the rational management of FH-1 in pregnancy are provided.

SUBMITTER: Sanga V

PROVIDER: S-EPMC8440273 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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Publications

A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy.

Sanga Viola V Seccia Teresa Maria TM Rossi Gian Paolo GP

Endocrine 20210527 1

<h4>Purpose</h4>Familial hyperaldosteronism type 1 (FH-1) is a rare autosomal dominant form of primary aldosteronism, which features a marked phenotypic heterogeneity, ranging from mild to severe forms of arterial hypertension that can be complicated by stroke and cardiovascular events at a young age. As affected patients usually reach the fertile age, transmission of the disease to offspring is common. Notwithstanding this, reports of FH-1 in pregnancy are limited and there is a lack of treatme ...[more]

PMID: 34043182

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Project description:ObjectivesHypertensive disorders of pregnancy (HDP) affect one in ten pregnancies and often persist postpartum when complications can occur. We aimed to determine the effectiveness and safety of pharmacological interventions, other interventions and different care models for postpartum hypertension management.DesignA systematic review was undertaken. Nine electronic databases, including Medline, were searched from inception to 16 March 2017. After duplicate removal, 4561 records were screened. Two authors independently selected studies, extracted study characteristics and data, and assessed methodological quality.SettingRandomised controlled trials, case-control studies and cohort studies from any country and healthcare setting.ParticipantsPostnatal women with HDP.InterventionsTherapeutic intervention for management of hypertension, compared with another intervention, placebo or no intervention.Primary and secondary outcome measuresOutcome data were collected for maternal mortality and severe morbidity; systolic, diastolic and mean arterial blood pressure (BP) control; and safety data. Secondary outcome data collected included the length of postnatal hospital stay and laboratory values.Results39 studies were included (n=2901). Results were heterogeneous in terms of intervention, comparison and outcome requiring a narrative approach. There were insufficient data to recommend any single pharmacological intervention. 18 studies reported calcium-channel blockers, vasodilators and beta-blockers lowered BP postpartum. 12 of these reported safety data. Limited data existed regarding management in the weeks following hospital discharge. Neither loop diuretics (three studies) nor corticosteroids (one study) produced clinical benefit. Uterine curettage significantly reduced BP over the first 48 hours postpartum (range 6-13 mm Hg) compared with standard care (eight studies), with safety data only reported by four of eight studies.ConclusionThere was insufficient evidence to recommend a particular BP threshold, agent or model of care, but three classes of antihypertensive appeared variably effective. Further comparative research, including robust safety data, is required. Curettage reduced BP, but without adequate reporting of harms, so it cannot currently be recommended.

Project description:BACKGROUND:Familial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected. This systematic review of guidelines aims to assess the role of genetic testing in the screening, diagnosis, and management of patients affected by heterozygous or homozygous FH and to identify related health-care pathways. METHODS:We performed a systematic review of the literature; inclusion criteria were English or Italian guidelines focusing on genetic testing. The guidelines were included and evaluated for their content and development process using the Appraisal of Guidelines for Research and Evaluation II instrument. RESULTS:Ten guidelines were considered eligible, and all were judged to be of good quality, with slight differences among them. The most common indications for performing genetic tests were high levels of cholesterol, or physical findings consistent with lipid disorder, in the subject or in the family history. Subsequent screening of family members was indicated when a mutation had been identified in the index patient. Regarding patient management, the various guidelines agreed that intensive treatment with lipid-lowering medications should begin as quickly as possible and that lifestyle modifications should be an integral part of the therapy. CONCLUSION:Since the early detection of affected patients is beneficial for effective prevention of CVD, genetic testing is particularly useful for identifying family members via cascade screening and for distinguishing between heterozygous and homozygous individuals, the latter of which require more extreme therapeutic intervention.

Dataset Information

A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy.

Purpose

Methods and results

Conclusion

Publications

A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy.

Similar Datasets

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