Recenzija, prikaz

https://doi.org/10.20471/acc.2025.64.04.22

A Child with Paroxysmal Extreme Pain Disorder and Erythromelalgia: Challenges in Hypertension Treatment

Gabriela Živković ; Division for Neonatology, Department of Obstetrics and Gynecology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Ivana Trutin ; Division for Pediatric Nephrology, Department of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, Croatia; University of Rijeka, School of Medicine, Croatia
Hrvoje Kniewald ; Division for Pediatric Cardiology, Department of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Ivo Barić ; Division for Genetics and Metabolic Disorders, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Croatia
Silvana Marković ; Department of Pediatrics, General Hospital “Dr. Tomislav Bardek”, Koprivnica, Croatia
Danijela Petković Ramadža ; Division for Genetics and Metabolic Disorders, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Croatia *

* Dopisni autor.

Sažetak

Paroxysmal extreme pain disorder (PEPD) and inherited erythromelalgia (IEM) are
two distinct syndromes caused by pathogenic mutations in the SCN9A gene. Still, they can be part of a
clinical continuum manifesting in the same patient. The main clinical characteristics are painful attacks
accompanied by various autonomic nervous system symptoms, the most severe being apnea, bradycardia
and asystole. Arterial hypertension has also been reported, especially in secondary erythromelalgia, however,
its pathomechanism is still not well understood. Some suggest that hypertension results from severe
painful episodes that activate the sympathetic nervous system. Other hypotheses include autoimmune
and inflammatory etiologies and dysfunctional nitrous oxide pathways causing non-apparent vasoconstriction.
Currently, there are no specific guidelines for hypertension management in pediatric patients
with IEM, making trial-and-error the most common therapeutic approach. Treatment is especially challenging
in patients with PEPD who manifest with bradycardia and asystole and usually take several
medications for controlling neuropathic pain. We report the clinical course of a patient with PEPD and
IEM who was diagnosed with systolic-diastolic hypertension at the age of nine, which was successfully
managed with low-dose doxazosin.

Ključne riječi

Paroxysmal extreme pain disorder; Erythromelalgia; Hypertension; Children

Hrčak ID:

344736

URI

https://hrcak.srce.hr/344736

Datum izdavanja:

31.12.2025.

Podaci na drugim jezicima: hrvatski

Posjeta: 504 *