Hereditary hemochromatosis (HFE-related; C282Y homozygous genotype primarily, compound C2...

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

ID	`RF-HEMOCHROMATOSIS-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	Hereditary hemochromatosis (HFE-related; C282Y homozygous genotype primarily, compound C282Y/H63D heterozygous less common) with biochemical or histologic iron overload in an individual without a current HCC diagnosis. Strongest genetic HCC risk factor among metabolic-genetic liver diseases: relative risk ~20-200x in cirrhotic HFE C282Y homozygotes (population baseline rare; absolute HCC incidence ~3-5%/year in cirrhotic HH cohorts). Non-cirrhotic HFE-positive iron-overload patients carry near-baseline HCC risk; the cirrhotic transition is the inflection point. Phlebotomy treatment to deplete iron stores (target ferritin <50 ng/mL, transferrin saturation <50%) arrests further iron-driven hepatic injury but does not reverse established cirrhosis or eliminate HCC risk in cirrhotic patients. AASLD HCC surveillance with US ± AFP q6mo recommended in HH-associated cirrhosis. Prevention-person...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "hfe_c282y_homozygous",
      "value": true
    },
    {
      "finding": "hfe_c282y_h63d_compound_heterozygous_with_iron_overload",
      "value": true
    },
    {
      "finding": "hemochromatosis_with_cirrhosis",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.3 chronic-condition prevention pilot — hereditary hemochromatosis (HFE) / HCC. Prevention-persona RedFlag (CHARTER §3 amended 2026-05-18 Path A, HCP-mediated). Fires when patient profile shows confirmed HFE-related hemochromatosis (especially C282Y homozygous with iron overload) AND no confirmed HCC. Engine routes to PreventionPlan with 2 tracks: phlebotomy treatment + ferritin/transferrin saturation monitoring + AASLD HCC surveillance if cirrhotic (IND-HEMOCHROMATOSIS-HCC-PREVENTION-SURVEILLANCE) as standard; hepatology-driven observation in non-cirrhotic iron-controlled HH (IND-HEMOCHROMATOSIS-HCC-PREVENTION-OBSERVATION) as alternative. Evidence base: - **HCC risk in cirrhotic HH:** Niederau et al. NEJM 1996 (cohort 251 HH patients, HCC SIR 219 in cirrhotic subset vs population); Elmberg et al. Gastroenterology 2003 (Swedish national cohort, SIR 21 overall, dominated by cirrhotic subset); contemporary studies confirm ~3-5%/year cirrhotic HCC incidence — exceeding AASLD 1.5%/year surveillance threshold. - **HCC risk in non-cirrhotic HH:** very low absolute incidence in iron-controlled non-cirrhotic patients per multiple cohorts — does not meet AASLD surveillance threshold. - *...

Де використовується

Indications

IND-HEMOCHROMATOSIS-HCC-PREVENTION-OBSERVATION - IND-HEMOCHROMATOSIS-HCC-PREVENTION-OBSERVATION
IND-HEMOCHROMATOSIS-HCC-PREVENTION-SURVEILLANCE - IND-HEMOCHROMATOSIS-HCC-PREVENTION-SURVEILLANCE