metabolic liver stuff Flashcards
1
Q
What is haemochromatosis?
A
- autosomal recessive disorder of iron absroptio and metabolism which results in excessive iron circulation and overload
- HFE gene mutation
2
Q
How may haemochromatosis present?
A
- asymptomatic but on routine bloods
- screening because a relative was diagnosed
- classic triad of - bronze skin, hepatomegaly, diabetes mellitus
- preceding non-specific symptoms - arthralgia, fatigue, ED, hearty things
3
Q
How is haemochromatosis diagnosed?
A
- iron studies - transferrin saturation most useful, Ferritin not as useful in early stages
- genotyping for asymptomatic relatives
- liver biopsy with PEARLS stain
4
Q
What are some secondary causes of iron overload that need to be ruled out?
A
- multiple transfusions
- alcoholic liver disease = increase iron stores
5
Q
How is haemochromatosis managed?
A
- twice weekly venesection until bloods normalised
- THEN 3-4 venesection per year for life
- Joint Xray for chondrocalcinosis
- HCC surveillance in haemochromatosis caused cirrhosis
6
Q
What’s wilson’s saying?
A
- autosomal recessive disorder or copper absorption and metabolism
- excessive copper deposition in organs
- copper-transportin ATPase - chromosome 13
7
Q
Age of onset and symptoms of Wilson’s disease?
A
- 10-25
- children = liver failure Sx
- young adults = neurological deficits
8
Q
More Sx for wilson’s plz.
A
- liver - hepatitis, cirrhosis
- neuro - speech disorder, behavioural disorder, dementia
- eyes - keysey-flicher rings
- blue nails
- renal tubular acidosis
9
Q
Diagnose me a wilson’s please.
A
-serum copper + caeruloplasmin (decreased)
-24 hour urinary collection for copper
-liver biopsy w/ increased copper
+/- a haemolytic anaemia picture
10
Q
Treat me a wilson’s?
A
- penicillamine - chelating agent
- zinc reduces absorption of copper
- liver transplant in end stage liver disease
11
Q
What’s alpha-1-antityrpsin disease?
A
- inherited condition resulting in a lack of A1At which is a protease inhibitor
- less protection from neutrophil elastase
- mutation in A1At gene on chromosome 14
12
Q
How does A1At present?
A
- lung disease - empyema and COPD
- liver disease - Cirrhosis and HCC adults. Cholestatis in children.
13
Q
How do diagnose A1AT deficiency?
A
- serum A1AT levels
- genotype confirmation
- liver biopsy
14
Q
How do treat A1AT deficiency?
A
- IV A1AT concentrates
- smoking cessation NOW
- supportive lung tings - bronchodilators, chest physio
- surgery - lung volume reduction, transplant liver and lung
