SCR-LIP-000315 · Claim · machine-readable JSON →
Whole-exome sequencing in a family with autosomal dominant nonsyndromic primary lipedema identified the AKR1C1 c.638T>A (p.L213Q) variant segregating perfectly with the disease in 3 affected members (puberty onset in all) and absent in 9 unaffected members, with molecular dynamics and QSAR predicting partial loss of 20α-HSD function that may promote lipogenesis via reduced progesterone catabolism.
Claim at a glance
- Type
- clinical association
- Knowledge state
- Emerging
- Evidence certainty
- very 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)
- Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema — Michelini et al. (2020) ✓ verified — consistent · case report · 2020 · reading confidence: high
“Variante AKR1C1 c.638T>A; p.L213Q identificada exclusivamente nas 3 pacientes afetadas e ausente nos 9 membros não afetados da família Sanger sequencing confirmou segregação perfeita com o fenótipo lipedema”
The article reports a hereditary (autosomal dominant) gene variant segregating with lipedema and links a hormonal mechanism (progesterone metabolism via 20α-HSD) to disease onset at puberty, directly supporting both heredity and hormonal in
Context (PECO)
Answers these questions
- Do hormones and heredity influence the onset of lipedema? consistent
- Do hormonal factors (puberty, pregnancy, menopause, estrogen) trigger or influence lipedema onset? consistent
- Is lipedema onset influenced by heredity and family history? consistent
Gaps & caveats
Auto-ingested single source; not yet human-reviewed.
Change log
- 2026-05-31 — created · auto-ingested for SQ-LIP-000012