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Liver Disorders

What Are Genetic Liver Disorders?

Genetic liver disorders are inherited conditions causing abnormal liver function due to gene mutations. Key conditions we treat

  • Hemochromatosis: Iron overload damages the liver, heart, and joints
  • Wilson’s Disease: Toxic copper accumulation leading to cirrhosis and neurological issues.
  • Alpha-1 Antitrypsin Deficiency: Misfolded proteins causing liver and lung damage.
  • Pediatric Metabolic Disorders: Glycogen storage diseases, tyrosinemia, and galactosemia.

Early diagnosis and targeted therapy can prevent irreversible damage.

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Diagnosis of Genetic Liver Disorders

1. Genetic Testing

  • Panels: Screen for mutations in HFE (hemochromatosis), ATP7B (Wilson’s), and SERPINA1 (Alpha-1).
  • Pediatric Testing: Rapid whole-exome sequencing for metabolic diseases like tyrosinemia.

2. Blood & Imaging

  • Iron Studies: Transferrin saturation, ferritin (hemochromatosis).
  • Ceruloplasmin: Low levels indicate Wilson’s disease.

Liver Elastography: Assess fibrosis in Alpha-1 patients.

Treatment Options

1. Hemochromatosis Treatment

  • Phlebotomy: Weekly blood removal (500 mL) to reduce iron.
  • Iron Chelation: asirox for patients unable to undergo phlebotomy.

2. Wilson’s Disease Management

  • Copper Chelation Therapy: Penicillamine or trientine to remove excess copper.
  • Zinc Acetate: Blocks intestinal copper absorption.
  • Low-Copper Diet: Avoid shellfish, nuts, and chocolate.

3. Alpha-1 Antitrypsin Deficiency

  • Enzyme Replacement: Augmentation therapy for lung involvement.
  • Liver Transplant: For cirrhosis or HCC.

4. Pediatric Metabolic Liver Disease

  • Dietary Therapy: Galactose-free diets for galactosemia.

Nitisinone: For tyrosinemia to block toxic metabolite production.

Why Choose Liver Surgeon in Delhi?

  • Dr. Ashish George: Renowned genetic liver disease specialist with 15+ years of expertise in copper chelation therapy, pediatric metabolic disorders, and gene-based care. Pioneered 100+ successful phlebotomy and transplant protocols.
  • Advanced Diagnostics:
    • Next-Gen Sequencing: Identifies rare mutations in days.
    • Precision Monitoring: MRI-based iron quantification for hemochromatosis.
  • NABH-Certified Facility:
    • Dedicated pediatric hepatology unit for metabolic liver disease in children.
    • India’s first iron overload treatment clinic with therapeutic phlebotomy suites.
  • Proven Outcomes:
    • 90% reduction in iron levels for hemochromatosis patients.
    • 80% of pediatric patients achieve normal growth with early intervention.

Success Stats:

  • 95% accuracy in genetic testing for liver disorders.
  • 70% lower transplant need for Wilson’s disease with early chelation.

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GENETIC LIVER CARE

Genetic Liver Disorder FAQs

While not curable, conditions like hemochromatosis and Wilson’s disease are manageable with phlebotomy or copper chelation therapy. Early care prevents complications.

No, but early diagnosis and strict dietary/therapy plans (e.g., nitisinone for tyrosinemia) allow normal development.

Initially weekly, then 3–4 times yearly once iron levels stabilize.

Yes. Non-invasive cheek swabs or blood tests are used at our Delhi center.

A low-copper diet is critical. Avoid shellfish, nuts, chocolate, and organ meats. Our Delhi team includes dietitians who create personalized meal plans alongside copper chelation therapy to prevent liver and neurological damage.

Misfolded proteins accumulate in the liver, causing fibrosis, while their absence in the lungs leads to emphysema. Enzyme replacement therapy addresses lung issues, while regular liver elastography monitors fibrosis. Dr. Ashish George’s team coordinates care with pulmonologists for holistic management.

Yes! Our genetic liver disease specialists in Delhi provide pre-and post-test counseling to explain inheritance risks, family planning, and preventive strategies for conditions like hemochromatosis or pediatric metabolic diseases.

Initially, every 3 months to adjust diets or medications (e.g., nitisinone for tyrosinemia). Once stable, biannual check-ups suffice. Our India clinics use advanced biomarkers to track progress and prevent crises.