Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Liver and Friends > metabolic liver disease > Flashcards

metabolic liver disease Flashcards

1
Q

define haemochromatosis

A

Multi-system disorder of dysregulated dietary iron absorption and
increased Iron release from macrophages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

aetiology of haemochromatosis

A
  • Autosomal recessive
  • High intake of iron and chelating agents e.g. ascorbic acid
  • Alcoholics may have iron overload
  • Chronic transfusions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Risk factors for Haemochromatossi

A
  • white
  • male
  • middle age
  • fx
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Where is the mutation in haemochromatosis

A
  • chromosome 6 of the HFE gene
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is acquired HH due to?

A

frequent transfusions of red blood cells or excessive intake of iron

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the 2 missense mutations in hereditary HH

A

C282Y and H63D

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Pathophysiology of HH

A

HFE gene protein interacts with transferrin receptor 1 > iron taken up by mucosal cells of SI inappropriately

Hepcidin (Protein synthesised in liver) is underexpressed in HH leading to iron overload

In duodenum unregulated absorption of iron resulting in iron overload

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

presentation of HH

A
  • after the age of 40 for men but after menopause for women
  • chronic fatigue
  • arthralgias
  • bronze discoloration
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

investigations for HH

A
  • serum ferritin
  • transerrin saturation - GS
  • genetic testing
  • Diagnostic is liver biopsy.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

treatment of HH

A

Venesection
- weekly

Lifestyle:

  • Patients should be advised to avoid alcohol and have a low iron diet

Iron chelation:

  • Desferrioxamine can be used for patients with a contraindication to phlebotomy, such as severe anaemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Complications of HH

A

Liver cirrhosis
Hepatocellular carcinoma
DM
Dilated cardiomyopathy
Pseudogout

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

DEFINE WILSONS DISEASE

A

Wilson’s disease is an autosomal-recessive disease of copper accumulation and copper toxicity caused by mutations in the ATP7B gene, which is part of the biliary excretion of copper pathway.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

aetiology of wilsons disease

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Normal role of atp7b

A

1- bind cu to apoceruloplasmin to make ceruplasmin
2- package excess cu into veseicles for removal via exocytosis in BILE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

pathophysiology of wilsons disease

A
  • Cu+ accumulates in the liver and can deposit elsewhere
  • produces free radicals
  • free radicals can damage liver and brain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Wilsons characterised by?

A

increased copper absorption from the small intestine and decreased hepatic copper excretion

17
Q

presentation of wilsons disease if brain affected

A
  • Behavioural and psychiatric issues: such as depression and delusions, often the first presentation. Also, loss of libido and bad memory.
  • Parkinsonism: half of patients present with a tremor
  • Asterixis
  • Chorea
  • Dysarthria
  • Dystonia
  • Dementia
18
Q

Presentation of wilsons if eyes affected

A
  • descemets membrane
  • corneal ring around eye is brown
19
Q

Wilsons effects

A
  • Hepatosplenomegaly
  • Jaundice+ ascites
  • Renal tubular acidocis
  • Blue nails
  • Grey skin
20
Q

investigation for wilsons disease

A

LFTs
24-hour urinary copper
slit-lamp examination
serum ceruloplasmin

21
Q

Definitive diagnosis for wilsons is made through ?

A

Liver biopsy

22
Q

Treatment for wilsons

A
  • Copper chelation
  • penicillinamine
  • trientine hydrochloride
23
Q

Complications of Wilsons

A
  • Liver failure:patients can present with acute liver failure or decompensation of pre-existing chronic liver disease. This may necessitate transplantation
  • Renal stones: secondary to hypercalciuria
  • Renal failure: often due to D-penicillamine therapy, rather than the disease itself
24
Q

what is alpha 1- antitrypsin deficiency

A

rare autosomal recessive disorder that causes liver and pulmonary disease.

A1AT is a type of serine protease inhibitor. Deficiency is called serinopathy.

25
Q

Epidemiology of A1AT

A
  • A1AT deficiency is most common in people of European ancestry and is uncommon in people of Asian descent.
  • Worldwide, there are > 3 million people affected by AATD.
  • Equal sex prevalence.
  • FH is RF
26
Q

what does alpha 1 anti trypsin deficiency lead to

A
  • excess of protease enzymes
  • liver cirrhosis
  • pulmonary basal emphysema
27
Q

pathophysiology of A1AT

A

Alpha-1 antitrypsin (A1AT) is aprotease inhibitormade in the liver which predominantly acts to protect the lungs from neutrophil elastase.

A1AT deficiency is a common inherited condition caused by a deficiency in A1AT, resulting inprotease-mediated damage, particularly in the lungs

Autosomal recessive/ co-dominant

28
Q

Symptoms of A1AT

A
  • Resp: Dyspnoea, weight loss, productive cough
  • Liver: Jaundice, hepatomegaly, ascites
29
Q

diagnosis for A1AT is made via

A
  • Low serum A1AT
  • liver biopsy shows cirrhosis
  • genetic testing for the A1AT gene
  • high resolution CT thorax
  • LFTs
  • Chest x-ray
30
Q

What type of mutation occurs in the liver for a1at

A

pi z mutation
misfolding of the protein

31
Q

What does pi z mutation lead to

A

misfolded protein aggregates in hepatocyte’s endoplasmic reticulum causing those cells to die

32
Q

presentation of a1at d

A
  • SOB
  • inability to make coagulation factors- bruise easily
  • cirrhosis sx
33
Q

tx for A1AT D

A
  • smoking cessation
  • avoid alcohol
  • COPD treatment
  • Hep A and B vaccinations
34
Q

Complications of A1AT

A

Resp failure
Cirrhosis
Cholestasis

Liver and Friends (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions