metabolic liver disease differencials - see annki for individual

Question 1

pathology for each

Answer 1

A1AT deficiency
- increased proteases - more tissue breakdown

haemochromatosis
- inc in iron absorption
- deposits in organs

wilsons
- mutation of copper transporter gene
- inc serum ceruloplasmin
- copper accumulates in liver

Question 2

dominant or recessive

Answer 2

A1AT deficiency - dominant

haemochromatosis - recessive

wilsons - recessive

Question 3

genes affected

Answer 3

A1AT deficiency - serpina1 chromosome 14

haemochromatosis - HFE gene chromosome 6

wilsons - chromosome 13

Question 4

presentation

Answer 4

A1AT deficiency - lung and liver issues despite not drinking or smoking much - family history of lung - jaundiced - obstructive lung results - liver edge palpable 2cm below costal margin - panacinar emphysema

haemochromatosis - erectile dysfunction, diabetic symptoms, bronzed skin, liver edge palpable, joint pain, cardiomyopathy symptoms, grey skin, signs of liver disease eg spider navei

wilsons - brown rings around eye, tremor, clumsiness, mood changes, chronic liver disease signs eg spider navaei

all - look for family history
eg for haemochromatosis - family with hemochromatosis that has members who receive transfusions for some reason
eg wilsons - family dying after hvaing jaundice ect

Question 5

testing for each

Answer 5

A1AT deficiency - serum A1AT low
lung imaging
liver biopsy - inc in fibrosis

haemochromatosis
- serum transferrin saturation

wilsons
- ceruloplasmin decrease

Question 6

treatment for each

Answer 6

A1AT deficiency - stop smoking - manage emphasema - organ transplant - monitor for complications - screen family

haemochromatosis
1ST LINE - venesection
desfornoxamine
decrease fe intake - fruit

wilsons
- Cu cheltation - penicillinamine / trientine
- zinc salts
- transplant

Question 7

symtpoms for each

Answer 7

A1AT deficiency
- pink puffeer, barrel chest, chronic cough, sputum, dyspnoea
- liver - jaundice + other chronic disease symptoms

haemochromatosis
- joint pain, hypogonadism, fatigue, flate grey/bronzed skin, cognitive symptoms, chronic liver disease

wilsons
- brown circle in eye, psychological, neurological, liver hep/cirrhosis