A first-degree relative of the patient (parent, sibling, or child) has a documented posit...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

ID	`RF-CASCADE-VHL-FDR-POSITIVE`
Type	Red flag
Status	reviewed 2026-05-19 \| pending_clinical_signoff
Diseases	`DIS-HCC` `DIS-PHEOCHROMOCYTOMA` `DIS-RCC`
Sources	`SRC-ASCO-ACMG-LYNCH-2014` `SRC-NCCN-KIDNEY-2025`

Red Flag Origin

Definition	A first-degree relative of the patient (parent, sibling, or child) has a documented positive germline test result for the VHL gene (von Hippel-Lindau syndrome). The patient themself has NOT yet been germline-tested and has no current personal cancer / tumor diagnosis. Per autosomal-dominant inheritance, the patient (regardless of current age — including pediatric patients) carries a 50% prior probability of also being a VHL carrier. Because VHL surveillance protocols begin in early childhood — ophthalmology from age 1-5, catecholamines from age 5-10, brain/spine MRI from age 15-16 — the cascade-testing question is time-critical in pediatric and young-adult first-degree relatives: a missed cascade-test delays the start of childhood-onset surveillance, with risk of retinal hemangioblastoma vision loss or undetected pheochromocytoma. Distinct from RF-VHL-FAMILY-HISTORY-SUSPICION (f...
Clinical direction	investigate
Category	other

Trigger Logic

{
  "any_of": [
    {
      "finding": "family_first_degree_relative_vhl_carrier_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B cascade-testing pilot (2026-05-19). Fires when a first-degree relative (FDR — parent, sibling, child) of an asymptomatic patient has a confirmed positive germline test for VHL. Engine routes to PreventionPlan recommending: (a) IND-CASCADE-VHL-FDR-POSITIVE-TESTING (standard) — cascade site-specific (familial-variant) VHL testing for the patient **from age 1** (childhood-onset surveillance dependency). Pre/post-test counseling addresses childhood-onset surveillance start (ophthalmology age 1-5; catecholamines age 5-10) and lifetime multi-organ tumor risk. De novo VHL variants occur in ~20% of probands — multi-gene panel expansion is reasonable if site-specific is negative and clinical suspicion persists. (b) IND-CASCADE-VHL-FDR-POSITIVE-SURVEILLANCE (alternative) — empirical multi-organ surveillance per VHL Alliance Active Surveillance Guidelines (annual ophthalmology from 1-5; catecholamines from 5-10; abdominal MRI from 15; brain/spine MRI from 15-16; audiology q2-3y) for patients who decline cascade germline testing, applied as if VHL were confirmed until testing settles the question. **50% prior probability** in autosomal-dominant inheritance (one parent heterozygous) — c...

Used By

Indications

IND-CASCADE-VHL-FDR-POSITIVE-SURVEILLANCE - IND-CASCADE-VHL-FDR-POSITIVE-SURVEILLANCE
IND-CASCADE-VHL-FDR-POSITIVE-TESTING - IND-CASCADE-VHL-FDR-POSITIVE-TESTING