SCR-LIP-000215 · Claim · machine-readable JSON →
Family-based exome sequencing of 31 individuals from 9 lipedema families identified candidate variants in 469 genes with no single gene shared across all families, supporting genetic heterogeneity rather than a Mendelian single-gene cause, with gene ontology enrichment in vasopressin receptor activity (AVPR1A, AVPR2), microfibril binding (FBN, ELN, LTBP), and patched binding (PTCH1/2, Hedgehog pathway).
Claim at a glance
- Type
- clinical association
- Knowledge state
- Emerging
- Evidence certainty
- low (GRADE)
- Evidence
- 1 source(s)
- Answers
- 3 question(s)
- Dates
- 2026-05-31 → 2026-05-31
Structured evidence, machine-compiled — not a verdict.
Auto-compiled by the Layer 1 surveillance loop; not yet human-reviewed. anthropic/claude-opus-4.8 · 2026-05-31
Evidence over time
Evidence (1)
- A Family-Based Study of Inherited Genetic Risk in Lipedema — Morgan et al. (2024) ✓ verified — refining · case series · 2024 · reading confidence: high
“Historical evaluation of individuals with lipedema indicates a positive family history in 60%-80% of cases; however, genetic investigation of larger family cohorts is required.”
The article directly addresses the question by reporting specific candidate genes/pathways and inheritance patterns; it refines the affirmative by concluding lipedema shows polygenic heterogeneity rather than a single Mendelian variant.
Context (PECO)
Answers these questions
- Do hormones and heredity influence the onset of lipedema? consistent
- What specific genetic variants or inheritance patterns have been identified in lipedema? refining
- Is lipedema onset influenced by heredity and family history? consistent
Gaps & caveats
Auto-ingested single source; not yet human-reviewed.
Change log
- 2026-06-02 — merged · absorbed duplicate SCR-LIP-000227 (same paper/finding)
- 2026-05-31 — created · auto-ingested for SQ-LIP-000025