{
  "abstract": "Background and aims\n\nHomozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder characterized by dangerously high low-density lipoprotein cholesterol levels from birth, creating extreme risk of premature cardiovascular events if untreated. Health-related quality of life (HRQoL) associated with HoFH is not well characterized.Methods\n\nAcross multiple countries, patients ≥12 years (y) with HoFH and caregivers ≥18y of patients with HoFH completed an online survey between April-May 2023 and May-August 2024. HRQoL was measured for patients and caregivers using the EuroQol 5 Dimension 5 Level (EQ-5D-5L) and the EuroQol visual analogue scale (EQ-VAS). Utility values were generated based on EQ-5D-5L responses using UK, US, and country-specific tariffs. Median annual cost associated with receiving/accompanying patients to receive lipoprotein apheresis (LA) was estimated.Results\n\nMost patients (n = 8/15) were aged 25-34y; all caregivers (n = 9) were >35y. Mean age at diagnosis was 6.7y (patients)/4.8y (patients of caregivers). Eleven (73%) patients/six (67%) patients of caregivers were receiving LA. EQ-5D-5L scores were lower in patients (0.74) than reported normal range for age-matched English population (0.79-0.95 [range 18-54y]) and average US adult score (0.85). EQ-VAS scores were lower for patients (mean 64/100) than reported US adult average score (80/100). Caregivers scored in normal range. Patients receiving LA reported lower HRQoL than patients who were not. Patients on weekly LA reported markedly lower HRQoL than those receiving it less frequently. Median annual cost associated with undergoing LA was €4915/y (patients)/€5161/y (caregivers).Conclusions\n\nHoFH substantially and negatively impacts patient HRQoL. Receiving LA, whilst efficacious, is costly and demanding on patients' and caregivers' time.",
  "abstract_shown": true,
  "affiliations": [
    "FH Europe Foundation, Amsterdam, 133RT, the Netherlands.",
    "Ultragenyx Pharmaceutical Inc, Novato, CA, USA.",
    "Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, AZ, 1105, the Netherlands."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Elsie Evans"
    },
    {
      "affs": [
        0
      ],
      "name": "Chyrel Lichaa"
    },
    {
      "affs": [
        1
      ],
      "name": "Richard D Jones"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Albert Wiegman"
    },
    {
      "affs": [
        0
      ],
      "name": "Magdalena Daccord"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/c5h9spxbzg64t.bib",
  "cited_by": 0,
  "doi": "10.2147/ppa.s632356",
  "fulltext_url": "https://europepmc.org/articles/PMC13693517",
  "id": "c5h9spxbzg64t",
  "issns": [
    "1177-889X"
  ],
  "landing_url": "https://europepmc.org/article/MED/42921523",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2746|Lipoproteins and Cardiovascular Health"
    ]
  ],
  "openalex": "W7222983701",
  "pdf_url": "https://europepmc.org/articles/PMC13693517?pdf=render",
  "pmcid": "PMC13693517",
  "pmid": "42921523",
  "published": "2026-10-19",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/c5h9spxbzg64t.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:33Z",
      "native_id": "MED:42921523",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42921523"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Lipoproteins and Cardiovascular Health",
      "subfield": "surgery"
    }
  ],
  "title": "Health-Related Quality of Life in Homozygous Familial Hypercholesterolemia: Results from an Online Survey.",
  "title_text": "Health-Related Quality of Life in Homozygous Familial Hypercholesterolemia: Results from an Online Survey.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:33Z",
  "url": "https://research.draconitic.com/paper/c5h9spxbzg64t",
  "venue": "Patient preference and adherence",
  "versions": []
}