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Hemochromatosis

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Hemochromatosis

  1. 1. Dr. Akif A.B
  2. 2.  It is due to dysregulation of Iron absorption.  Most commonly due to mutation in HFE gene at Chromosome 6.  Most common gene is C282Y.  Normal body iron stores = 3-4gm  Daily iron absorption and excretion = 1mg/d in males and 1.5mg/day in females.  In hemochromatosi daily absorption increases to 4mg/day whereas excretion remains same
  3. 3. 1. Genetic predisposition without manifestations 2. Iron overload without symptoms 3. Iron overload with symptoms (Fatigue) 4. Iron overload with organ failure
  4. 4.  Non specific  Liver  Skin  Heart  Pituitary  Joints
  5. 5.  These are the initial symptoms:  Lethargy/ Fatigue : MC symptom of Hemochromatosis  Skin discoloration  Arthralgia  Loss of Libido  Features of Diabetes Mellitus.
  6. 6.  Most commonly involved in Advanced disease  Present in 95% patients of Advance disease  Hepatomegaly  Cirrhosis  Hepatocellular carcinoma develops in 30% patients
  7. 7.  Metallic or sley grey  Due to increase Iron and Melanin in Dermis  Generalised and diffuse  Known as Bronzing
  8. 8.  65% of patients  More prone in family history of Diabetes.  Occurs due to Iron deposition in Pancreatic Islet cells.
  9. 9.  25-50% patients  Most commonly involves : 2nd and 3rd Metacarpo- Phalangeal Joint.
  10. 10.  15% patients  Most common presentation : Congestive heart failure  Cardiomyopathy occurs
  11. 11.  Occurs in both sexes  Occurs due to iron deposition in Pituitary  Leading to Hypogonadotropic hypogonadism.
  12. 12.  Hypoadrenalism  Hypothyroidism  Hypoparathyroidism
  13. 13.  Transferrin saturation : >45% (Normal=22-45)  Serum ferritin : Elevated 300->1000 (Normal =20- 250µg/L)  TIBC : Normal or slightly elevated  Serum iron : Elevated
  14. 14.  Serum iron is also elevated in Alcoholic liver disease but hepatic iron is not increased in it.  So both Serum ferritin and Transferrin level should be used for diagnosis of Hemochromatosis.  An increase in 1µg/L of Ferritin indicates Increase of 5mg of Iron Iron body stores
  15. 15.  Phlebotomy  Weekly or twice weekly  500ml blood is removed  500ml blood removes 200-250mg of Iron  Total of 25gm of Iron need to be removed  To be continued till serum ferritin levels : <50µg/L  After that one phlebotomy every 3 monthly
  16. 16.  Parenteral - Deferoxamine (Oral – Deferaxirox)  Removes 10-20mg Iron per day  Less effective than Phlebotomy  More costlier  Indicated only in severe anemia and severe hypoalbuminemia where Phlebotomy cant be done
  17. 17.  Iron supplementation should be avoided  Vitamin C supplementation should be avoided  Alcohol should be avoided  Management of Cardiac failure, Heaptic failure and Diabetes is as routinely managed.  Treatment cannot reverse Cirrhosis.
  18. 18.  5 year survival rate increases from 33-89% with phlebotomy  Major cause of Death are:  Cardiac failure  Hepatic failure  Hepatocellular carcinoma  Portal hypertension

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