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Updated: Jul 16, 2025

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
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Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases

Bárbara Martins Saraiva1, Susana Santos2, Ana Cristina Ferreira3

  • 1Hospital Dona Estefânia, Centro Hospitalar Lisboa Central Department of Pediatrics Lisbon Portugal.

Endocrine, Metabolic & Immune Disorders Drug Targets
|September 15, 2023
PubMed

Insights

Paediatric palliative care (PPC) significantly improves quality of life for children with inherited metabolic diseases (IMD) by reducing hospital admissions. PPC addresses complex symptoms and provides essential support for these challenging conditions.

Area of Science:

  • Palliative Care
  • Metabolic Disorders
  • Pediatrics

Background:

  • Paediatric palliative care (PPC) enhances quality of life for children with life-limiting illnesses.
  • Inherited metabolic diseases (IMD) present complex challenges in symptom management and lifelong care.

Purpose of the Study:

  • To characterize patients with IMD under paediatric palliative care.
  • To describe the care provided to this patient cohort.

Main Methods:

  • Descriptive analysis of demographic, clinical, and care delivery data.
  • Study cohort: paediatric patients with confirmed IMD diagnosis.
  • Data collected between 2018 and 2023.

Main Results:

  • 10% of PPC patients had IMD (n=13), including mitochondrial, peroxisomal, and lysosomal disorders.
  • Patients experienced significant symptom burden (neurologic, gastrointestinal, respiratory) and dependency.
  • PPC reduced median hospital admissions from 4 to 1, improving quality of life.

Conclusions:

  • IMDs are complex, multisystemic diseases with significant symptom burden and frequent complications.
  • PPC effectively manages symptoms, reduces hospitalizations, and improves quality of life for IMD patients.
  • PPC should be universally accessible for all children with life-threatening conditions.
Abstract

Keywords:
Inherited metabolic diseases;Lifelong care;Neurologic impairment;Pediatric palliative care;Symptom burden;Symptom management;

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