metabolic liver disorders

Question 1

what is hereditary hemochromatosis ?

Answer 1

disorder characterized by iron mediated tissue injury due to impaired intestinal iron absorption

Question 2

what is the mode of inheritance of HH ?

Answer 2

autosomal recessive

Question 3

what are the classifications of HH ?

Answer 3

HFE mutation
Non HFE mutation

Question 4

where is the major site of iron deposition in HH ?

Answer 4

the liver

Question 5

what are the clinical features of HH ?

Answer 5

liver disease - elevated ALT, liver cirrhosis
skin hyperpigmentation
amenorrhea
cardiac disease
diabetes
joint disease

Question 6

what are thee initial tests that should be done if HH is suspected ?

Answer 6

serum transferrin saturation (elevated )
ferritin levels (elevated)

serum transferrin is more sensitive

Question 7

what is the cut off value for the transferrin saturation for further investigation in the diagnosis of HH ?

Answer 7

45%

Question 8

what is the next best step in investigation if the transferrin saturation is above 45% and/or elevated ferritin ?

Answer 8

perform HFE genotype , if positive then perform therapeutic phlebotomy

Question 9

what is the acquired form of hepcidin deficiency ?

Answer 9

dyserythropoiesis

Question 10

what is the treatment for HH ?

Answer 10

1- one phlebotomy per week , remove 500 ml of blood
2- check seerumm ferritin every 10-12 phlebotomiies
3- avoid vitamin c supplements

Question 11

what range should the serum ferritin be kept in ?

Answer 11

between 50-100 lg/L

Question 12

what is the treatment for secondary iron load due to dyserythropoiesis ?

Answer 12

1- deferoxamine (desferal) at a dose of 20-40 mg/kg body weight per day
2- deferasirox given oral
3- avoid vitamin c

Question 13

what type of disease is Wilson’s disease ?

Answer 13

autosomal recessive disorder of copper metabolism
ATP7B

Question 14

how is copper normally excreted from the body ?

Answer 14

biliary excretion which is aideed by the function of ATP7B

Question 15

what is the effect of excess copper in the body ?

Answer 15

deposits in the basal ganglia of the brain and causes psychiatric manifestations
and deposits in the descemet membrane of the cornea and causes kayser fleischer rings and sunflower cataract

Question 16

what lab test can be used to aid in the diagnosis of WD?

Answer 16

ceruloplasmin is low
urinary copper excretion

Question 17

what is the treatment of WD ?

Answer 17

d-penicillamine

Question 18

if a WD patient is intolerant to d-penicillamine what should the patient take ?

Answer 18

trientine
zinc

Question 19

what is the most common metabolic liver disease in childhood ?

Answer 19

alpha 1 antitrypsin deficiency

Question 20

when should a diagnosis of alpha 1 antitrypsin deficiency be considered ?

Answer 20

should be considered in all adults and children with chronic hepatitis or cirrhosis of unknown origin

Question 21

what are the two different presentations of alpha 1 antitrypsin deficiency ?

Answer 21

low circulating levels of alpha 1 antitrypsin is associated with emphysema ( older patients)
whereas retention off the abnormally folded protein causes liver disease ( new borns )

Question 22

what are the clinical features associated with liver involvement in alpha 1 antitrypsin deficiency ?

Answer 22

first identified in newborn with persistent cholestatic jaundice

Question 23

how is a diagnosis of alpha 1 antitrypsin made ?

Answer 23

serum levels of alpha 1 AT
generally decreased in affected patients
but is also an acute phase reactant

Question 24

what is the management associated with alpha 1 anti trypsiin ?

Answer 24

no specific treatment
give fat soluble vitamins
avoid smoking
recombinant alpha 1 antitrypsin therapy

Question 25

what is the recommended treatment for alpha 1 ATD associated end stage liver disease and liver failure ?

Answer 25

liver transplantation