Family pedigree suggestive of Von Hippel-Lindau (VHL) disease: any of (a) a family member...

Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.

ID	`RF-VHL-FAMILY-HISTORY-SUSPICION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-18 \| очікує клінічного підпису
Хвороби	`DIS-PDAC` `DIS-RCC`
Джерела	`SRC-ESMO-RCC-2024` `SRC-NCCN-KIDNEY-2025`

Походження тривожної ознаки

Визначення	Family pedigree suggestive of Von Hippel-Lindau (VHL) disease: any of (a) a family member with a known pathogenic VHL gene variant; (b) first-degree relative with clear-cell renal cell carcinoma diagnosed before age 46 (early-onset RCC bright-line for hereditary RCC syndrome workup); (c) family history of bilateral or multifocal RCC (suggestive of hereditary RCC syndrome, with VHL the most common cause); (d) family history of CNS or retinal hemangioblastoma (pathognomonic VHL manifestation); (e) family history of pheochromocytoma / paraganglioma co-occurring with RCC or hemangioblastoma (the multi-organ VHL pattern). No current personal cancer diagnosis in the individual at risk. Prevention-persona RedFlag (§20 ratification 2026-05-18, v0.2-B hereditary pilot starter).
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "family_vhl_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_clear_cell_rcc_under_46",
      "value": true
    },
    {
      "finding": "family_bilateral_or_multifocal_rcc",
      "value": true
    },
    {
      "finding": "family_hemangioblastoma_cns_or_retinal",
      "value": true
    },
    {
      "finding": "family_pheochromocytoma_paraganglioma_with_rcc_or_hemangioblastoma",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B hereditary pilot — VHL. Fires on pedigree-based suspicion of VHL disease in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline VHL gene panel testing (modern renal-cancer hereditary panels include VHL, FH, FLCN, MET, BAP1, SDHB/C/D, TSC1/2 for differential) via IND-VHL-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical multi-organ surveillance for patients declining testing via IND-VHL-SUSPICION-PREVENTION-ENHANCED- SURVEILLANCE (alternative). Triggers correspond to established VHL-suspicion criteria. Patient profile is expected to carry these as computed booleans from the pedigree input (FHIR FamilyMemberHistory at the data-standards layer; computation is a downstream concern not yet implemented). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: NCCN Genetic/Familial High-Risk: Kidney as a new SRC entity; VHL Alliance / International VHL Surveillance Guidelines (2020 consensus); ACMG VHL testing guidance. Confirmed VHL carriers (germline mutation positive on panel) route to a DIFFERENT prevention pathway (carrier-confirmed stru...

Де використовується

Algorithms

ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW - ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW

Indications

IND-VHL-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE - IND-VHL-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE
IND-VHL-SUSPICION-PREVENTION-GENETIC-COUNSELING - IND-VHL-SUSPICION-PREVENTION-GENETIC-COUNSELING

Тривожна ознака

RF-VHL-CONFIRMED-CARRIER - Patient has a confirmed germline VHL pathogenic variant (positive germline test result, d...