Wilson's disease (autosomal recessive ATP7B-mutated copper-transport disorder with hepati...

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

ID	`RF-WILSONS-DISEASE-HCC-PREVENTION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-18 \| очікує клінічного підпису
Хвороби	`DIS-HCC`
Джерела	`SRC-AASLD-HCC-2023` `SRC-NCCN-BCELL-2025` `SRC-NCCN-HCC-2025`

Походження тривожної ознаки

Визначення	Wilson's disease (autosomal recessive ATP7B-mutated copper-transport disorder with hepatic and/or neuropsychiatric manifestations; Leipzig score ≥4 confirmatory) in an individual without a current HCC diagnosis. Historically considered a low-risk cirrhosis etiology for HCC, but contemporary cohorts (van Meer et al. Liver Int 2015; Pfeiffenberger et al. J Hepatol 2018) report HCC incidence of ~0.5-1%/year in cirrhotic Wilson's — exceeding the AASLD 1.5%/year surveillance-threshold in the cirrhotic subset. Risk concentrated in patients with established cirrhosis (especially decompensated disease) and those with prolonged uncontrolled copper accumulation. Adherent copper-chelation therapy (penicillamine, trientine, zinc) reduces hepatic copper burden but does not eliminate residual HCC risk in patients who already developed cirrhosis. AASLD HCC surveillance with US ± AFP q6mo recommended i...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "wilson_disease_diagnosis_confirmed",
      "value": true
    },
    {
      "finding": "wilson_disease_with_cirrhosis",
      "value": true
    },
    {
      "finding": "atp7b_mutation_compound_heterozygous_or_homozygous",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.3 chronic-condition prevention pilot — Wilson's disease / HCC. Prevention-persona RedFlag (CHARTER §3 amended 2026-05-18 Path A, HCP-mediated). Fires when patient profile shows confirmed Wilson's disease (especially with cirrhosis) AND no confirmed HCC. Engine routes to PreventionPlan with 2 tracks: AASLD HCC surveillance with US + AFP q6mo if cirrhotic + transplant evaluation for advanced disease (IND-WILSONS-DISEASE-HCC-PREVENTION-SURVEILLANCE) as standard; hepatology-driven observation without scheduled HCC imaging in non-cirrhotic Wilson's (IND-WILSONS-DISEASE-HCC-PREVENTION- OBSERVATION) as alternative. Evidence base: - **HCC risk magnitude:** historically rare (case-report literature pre-2000) but contemporary cohorts revise upward — van Meer Liver Int 2015 (Dutch cohort, HCC incidence ~1%/year in cirrhotic Wilson's); Pfeiffenberger J Hepatol 2018 (German multicenter, similar). Non-cirrhotic Wilson's HCC incidence remains very low (<0.1%/year). - **AASLD 2023 guideline:** HCC surveillance with US ± AFP q6mo recommended for any cirrhosis with incidence >1.5%/year. Wilson's cirrhosis crosses this threshold in modern series → surveillance indicated. - **Chelation adherence:*...

Де використовується

Indications

IND-WILSONS-DISEASE-HCC-PREVENTION-OBSERVATION - IND-WILSONS-DISEASE-HCC-PREVENTION-OBSERVATION
IND-WILSONS-DISEASE-HCC-PREVENTION-SURVEILLANCE - IND-WILSONS-DISEASE-HCC-PREVENTION-SURVEILLANCE