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Ambulatory blood pressure profiles in familial dysautonomia

  • Lior Goldberg
  • Bat-El Bar-Aluma
  • Alex Krauthammer
  • Ori Efrati
  • Yehonatan Sharabi
Research Article

Abstract

Objective

Familial dysautonomia (FD) is a rare genetic disease that involves extreme blood pressure fluctuations secondary to afferent baroreflex failure. The diurnal blood pressure profile, including the average, variability, and day–night difference, may have implications for long-term end organ damage. The purpose of this study was to describe the circadian pattern of blood pressure in the FD population and relationships with renal and pulmonary function, use of medications, and overall disability.

Methods

We analyzed 24-h ambulatory blood pressure monitoring recordings in 22 patients with FD. Information about medications, disease severity, renal function (estimated glomerular filtration, eGFR), pulmonary function (forced expiratory volume in 1 s, FEV1) and an index of blood pressure variability (standard deviation of systolic pressure) were analyzed.

Results

The mean (± SEM) 24-h blood pressure was 115 ± 5.6/72 ± 2.0 mmHg. The diurnal blood pressure variability was high (daytime systolic pressure standard deviation 22.4 ± 1.5 mmHg, nighttime 17.2 ± 1.6), with a high frequency of a non-dipping pattern (16 patients, 73%). eGFR, use of medications, FEV1, and disability scores were unrelated to the degree of blood pressure variability or to dipping status.

Interpretation

This FD cohort had normal average 24-h blood pressure, fluctuating blood pressure, and a high frequency of non-dippers. Although there was evidence of renal dysfunction based on eGFR and proteinuria, the ABPM profile was unrelated to the measures of end organ dysfunction or to reported disability.

Keywords

Blood pressure Familial dysautonomia Dipping Circadian 

Notes

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Supplementary material

10286_2018_507_MOESM1_ESM.docx (18 kb)
Supplementary material 1 (DOCX 18 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Pediatric Pulmonary Unit and The National Center for Familial Dysautonomia, Edmond and Lily Safra Children’s Pediatric HospitalChaim Sheba Medical CenterTel-HaShomerIsrael
  2. 2.Hypertension UnitChaim Sheba Medical CenterTel-HaShomerIsrael
  3. 3.Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael

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