hemochromatosis & wilson. Definition, pathogenesis, clinical features, investigation, treatment

This presentation includes brief description of 2 diseases

1. Hemochromatosis Sidra Riasat Roll no 37

2. Definition Haemochromatosis is a condition in which the amount of total body iron is increased; the excess iron is deposited in, and causes damage to, several organs, including the liver. TYPES Genetic Hemochromatosis--- Mutation Secondary hemochromatosis Blood transfusion Ineffective erythropoiesis Dietary intake

3. Iron absorption

4. Genetic Hemochromatosis Autosomal recessive ----90% homozygous HFE gene on chromosome 6 C282Y ---- cystine – tyrosine H63D ---- histidine – aspartic acid Male predominance than females >40 years

5. Clinical features T TRIAD • Cirrhosis • Diabetes • Hyper pigmentation

6. Diagnosis

7. Treatment Phlebotomy Weekly venesection of blood----500ml blood Target serum ferritin<50g/L, transferrin saturation Improve cardiac & liver but not joint pain & DM Drugs Iron chelator ( deferoxamine ) Screening HCC 1 st degree relatives Treat complications CHF, diabetes, arthritis, hypothyroidism

8. Wilson‘s Disease

9. Definition Also known as “ hepatolenticular degeneration” It is a genetic disorder of copper metabolism resulting in accumulation of toxic levels of copper

10. Pathogenesis

11. Clinical features

12. Diagnosis

13. Treatment Avoid foods(chocolate, nuts, liver) Chelators ( Pencillamine ) ---- remove and detoxify excess copper Zinc---- inhibit copper reabsorption Liver transplant(cirrhosis with liver failure)