Evidence map›Paper›PMID 40856938›Full record

ArticleClinical autonomic research : official journal of the Clinical Autonomic Research Society2025

Screening for acute hepatic porphyria in postural tachycardia syndrome.

Naome Mwesigwa, Hadley Williamson, Shalonda Turner, Mehr E Pouya, Tan Ding, Ortiz J Pedro, Karl E Anderson, Cyndya A Shibao

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Article in Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

8 authors.

Naome MwesigwaDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 Robinson Research Building, Nashville, TN, 37232-880, USA.
Hadley WilliamsonDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 Robinson Research Building, Nashville, TN, 37232-880, USA.
Shalonda TurnerGalveston Porphyria Laboratory, Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX, USA.
Mehr E PouyaDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 Robinson Research Building, Nashville, TN, 37232-880, USA.
Tan DingDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 Robinson Research Building, Nashville, TN, 37232-880, USA.
Ortiz J PedroDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 Robinson Research Building, Nashville, TN, 37232-880, USA.
Karl E AndersonGalveston Porphyria Laboratory, Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX, USA.
Cyndya A ShibaoDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 Robinson Research Building, Nashville, TN, 37232-880, USA. cyndya.shibao@vumc.org.ORCID http://orcid.org/0000-0002-4518-6801

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposePostural orthostatic tachycardia syndrome (POTS) is characterized by an excessive heart rate increase upon standing, often associated with dizziness, gastrointestinal symptoms, and decreased functional capacity. Acute hepatic porphyrias (AHP) are rare metabolic disorders with nonspecific neurovisceral and autonomic symptoms, some of which overlap with POTS. The purpose of this study was to evaluate AHP by molecular and biochemical testing in patients with POTS.

methodsWe studied 50 patients diagnosed with POTS and gastrointestinal symptoms at the Vanderbilt Autonomic Dysfunction Center. They underwent neuro-hormonal evaluation for POTS and genetic and biochemical screening for AHP. Genetic testing was aimed mainly at the four genes relevant to AHPs. Porphobilinogen (PBG), delta-aminolevulinic acid (ALA), and total porphyrins were measured in urine with normalization to creatinine.

resultsThe average age of the patients was 33 ± 8.6 years, 96% were female, and the average BMI was 28 ± 7.2 kg/m

conclusionsWe found no evidence of AHP in patients with POTS with uncontrolled gastrointestinal symptoms, suggesting that screening for AHP, a rare genetic disorder, may not be warranted.

Indexed as

Porphyrias, HepaticPostural Orthostatic Tachycardia SyndromeAdultFemaleGenetic TestingHumansMaleMiddle AgedPorphobilinogen SynthaseYoung AdultPorphobilinogen SynthaseAcute hepatic porphyriaDelta-aminolevulinic acidPostural tachycardia syndrome (POTs)Urinary porphobilinogen

Identifiers

PMID40856938
PMCPMC12664853

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.