SCR-LIP-000235 · Claim · machine-readable JSON →

This review reports lipedema as polygenic with familial history in 30-89% of cases, citing a 2022 GWAS (130 carriers) identifying 6 regions (CPE, ZNF25, ZNF33A linked to estrogen biology), a UK Biobank study (24,450 women) finding 18 loci replicating VEGFA and GRB14-COBLL1, a partial loss-of-function missense variant in AKR1C1 in a non-syndromic lipedema family, and a multigene panel of 305 loci finding 17 probable deleterious lesions in 21/162 participants, with no single causal gene and no overlap with primary lymphedema or lipodystrophies.

Emerging clinical association Evidence certainty: moderate (GRADE)

Created: 2026-05-31 · Last updated: 2026-05-31

Auto-compiled by the Layer 1 surveillance loop; not yet human-reviewed. anthropic/claude-opus-4.8 · 2026-05-31

Evidence over time

Unraveling lipedema: comprehensive insights and the path to future discoveries — Faria et al. (2025) — supporting · review · 2025
The review directly synthesizes genetic findings in lipedema, naming specific GWAS loci, candidate genes, and a missense variant, and characterizes the inheritance as polygenic, directly addressing the question.
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors — Klimentidis et al. (2023) — supporting · cross sectional · 2023
First GWAS of a lipedema phenotype directly identifying specific genetic variants and a polygenic inheritance pattern, with partial replication; uses an inferred phenotype rather than clinical diagnosis in the discovery cohort, limiting cer

Conditionlipedema

Scopeauto-ingested from Layer 1 surveillance

Auto-ingested single source; not yet human-reviewed.