Management
No curative therapycurrently; management is supportive and pre-emptive.
The disease is progressive but slowly evolving— patients may remain stable for decades.
Early diagnosis and multidisciplinary follow-up (hepatology, nephrology, cardiology, genetics) are essential.
Liver Disease Management & Surveillance
Domain Recommended Surveillance
Liver function ALT, AST, bilirubin, ALP, GGT every 6–12 months
Fibrosis progression Ultrasound with elastography or MRI every 1–2 years
Portal hypertension Screening endoscopy for varices (every 2–3 years if portal hypertension present)
Management
Supportive treatment for cholestasis(e.g. ursodeoxycholic acid, antipruritics).
Avoid hepatotoxins and alcohol.
Beta-blockers or band ligation for variceal bleeding risk.
Liver transplantation for decompensated cirrhosis or intractable portal hypertension.
Kidney Disease Management & Surveillance
Domain Recommended Surveillance
Renal function Serum creatinine/eGFR and urinalysis every 6–12 months
Imaging Ultrasound or MRI of kidneys every 1–2 years to assess fibrosis/cysts
Blood pressure Every clinic visit – hypertension accelerates fibrosis
Electrolytes Periodic checks (especially if CKD stage ≥3)
Management
Optimize blood pressure (ACE inhibitor or ARB preferred).
Avoid nephrotoxins(NSAIDs, contrast agents).
CKD managementper KDIGO guidelines — anemia, mineral bone disease, protein restriction if advanced CKD.
Renal transplantation for end-stage kidney disease (ESKD occurred in several adult patients).
Cardiac Disease Management & Surveillance
Domain Recommended Surveillance
Echocardiogram Baseline at diagnosis; repeat every 2–3 years or earlier if symptomatic
ECG Annually for conduction abnormalities
Cardiac MRI If hypertrophy or fibrosis suspected
Cardiology review For symptoms (dyspnea, chest pain, syncope)
Management
Standard therapy for hypertrophic non-obstructive cardiomyopathy (HNCM):
beta-blockers, rate control, and management of arrhythmia or heart failure if present.
Genetic and Family Aspects
Autosomal recessive inheritance, offer genetic counselling.
Cascade testing for siblings or at-risk relatives.
Pre-symptomatic surveillance for identified carriers to monitor for early liver enzyme changes or imaging abnormalities.