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Gastrointestinal (LECTURE NOTES) > Hereditary and congenital liver diseases > Flashcards

Hereditary and congenital liver diseases Flashcards

1
Q

What is the hallmark of hereditary haemochromatosis (HHC)

A

Systemic iron overload

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2
Q

What organs can be affected by iron overload

A 
Liver
pancreas
heart
joints
pituitary
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3
Q

Mutations of what gene cause a defect in iron handling

A

The HHC gene (HFE)

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4
Q

Where is the class 1 protein, coded for by HFE expressed

A

Many cells including the duodenal crypts

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5
Q

What does the MHC protein interact with

A

The transferrin receptor to facilitate iron uptake into cells and defects in it alter this interaction

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6
Q

What type of condition is HHC

A

an autosomal dominant inherited condition

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7
Q

What type of condition is HHC

A

an autosomal dominant inherited condition

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8
Q

What is the prevalence of HHC in Caucasians

A

Between 1 in 300 to 1 in 400

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9
Q

What are the clinical features of HHC

A 
Lethargy 
Abdominal pain (episodic)
Hepatomegaly 
Chronic liver disease if advanced 
Diabetes
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10
Q

What coniditon is associated with iron overload and may occur in association with haemochromatosis

A

Porphyria cutanea tarda (PCT)

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11
Q

What are patients with iron overload at increased risk of

A

Yersinia enterocolitica infection

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12
Q

When might a false negative occur in blood tests for HHC

A

In menstruating women, ill patients, liver disease, hepatitis

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13
Q

What test has replaced liver biopsy in suspected iron overload

A

Genetic testing

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14
Q

What should be test for in genetic testing for HHC

A

C282Y and H63D

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15
Q

During screening of HHC, what should be acrried out

A

History and Examination
Transferrin saturation
Serum ferritin

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16
Q

What is the management of HHC

A

Venesection - at weekly intervals until the Hb concentration falls to normal.
Monitor the serum ferritin - keep value within the normal range

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17
Q

What is the prognosis of HHC like?

A

Dependent on the presence of cirrhosis or diabetes

Life expectancy is normal in the absence of this

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18
Q

What is Wilson’s disease

A

An autosomal recessive disorder caused by a defect in hepatic copper excretion resulting in copper overlaod and copper deposition in various organs which results in many abnormalities

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19
Q

What is the prevalence of Wilson’s disease

A

1 in 30000

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20
Q

How does copper accumulate in the liver in Wilson’s disease

A

It is not incorporated into its carrier protein, caeruloplasmin within hepatocytes and therefore is not adequately excreted into bile and accumulates in the liver

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21
Q

The abnormal genee for Wilson’s disease (ATP7B) is on which chromosome

A

Chromosome 13

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22
Q

How many copper binding sites are on the ATPase transporter

A

6

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23
Q

What might Wilson’s disease present as

A 
Acute hepatitis
Chronic liver disease
Fulminant liver disease
Progressive neurological disorder 
Pschiatric illness
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24
Q

At what age do patients usually become symptomatic

A

between 6 and 45

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25
Q

All patients being tested for autoimmune hepatitis should also be tested for what

A

Wilson’d disease

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26
Q

What is the hallmark of Wilson disease

A

A low caeruloplasmni

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27
Q

What is the main management for Wilson disease

A

Chelation therapy
Penicillamine which increases urinary excretion of copper
Pyridoxine is given in conjunction iwth penicillamine

Second line: Trientine
zinc
reduction of dietary copper

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28
Q

What is alpha 1 antitrypsin

A

A protease inhibitor that control tissue degradation by inhibiting a large number of proteases including trypsin, plasmin etc.

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29
Q

Where is alpha 1 antitrypsin produced

A

The liver

30
Q

Where is alpha 1 antitrypsin produced

A

The liver

31
Q

How does liver disease occur in alpha 1 antitrypsin deficiency

A

The accumulation of aggregated alpha 1 antitrypsin within the hepatocyte endoplasmic reticulum

32
Q

Lung injury in alpha 1 antitrypsin deficiency is a result of what

A

Loss of protease inhibition

33
Q

What is also associated with alpha 1 antitrypsin deficiency

A

COPD

34
Q

How is COPD related to alpha 1 antitrypsin deficiency

A

It is due to the loss of the normal antiproteolytic defences against elastase

35
Q

alpha 1 antitrypsin is encoded for by what

A

By a single gene located on chromosome 14

36
Q

What are the clinical features of alpha 1 antitrypsin deficiency in childhood

A 
Pruritus 
hepatomegaly 
conjugated hyperbilirubinaemia 
increased serum aminotransferase
cholestasis can be marked
37
Q

What happens to liver disease in alpha 1 antitrypsin deficiency in childhood

A

It often resolves spontaneously after 6 months

38
Q

In adults with alpha 1 antitrypsin deficiency, what is there a high risk of

A

cirrhosis and HCC

39
Q

How can alpha 1 antitrypsin deficiency be diagnosed

A

By a marked reduction or absence of the alpha-1- globulin band in an agarose gel electrophoresis

40
Q

What is the management for alpha 1 antitrypsin deficient patients

A

Regularly assessed with LFT
Monitor for renal disease and vasculitis
CXR and pulmonary function assessmet
Smoking cessation

41
Q

What can be given to patients with progressive emphysema and vasculitis

A

Purified human alpha 1 antitrypsin

42
Q

What condiiton is associated with iron overload and may occur in association with haemochromatosis

A

Porphyria cutanea tarda (PCT)

43
Q

During screening of HHC, what should be carried out

A

History and Examination
Transferrin saturation
Serum ferritin

44
Q

What is Wilson’s disease

A

An autosomal recessive disorder caused by a defect in hepatic copper excretion resulting in copper overload and copper deposition in various organs which results in many abnormalities

45
Q

All patients being tested for autoimmune hepatitis should also be tested for what

A

Wilson disease

46
Q

What is the main management for Wilson disease

A

Chelation therapy
Penicillamine which increases urinary excretion of copper
Pyridoxine is given in conjunction with penicillamine

Second line: Trientine
zinc
reduction of dietary copper

47
Q

What is the management for alpha 1 antitrypsin deficient patients

A

Regularly assessed with LFT
Monitor for renal disease and vasculitis
CXR and pulmonary function assessment
Smoking cessation

48
Q

What can be given to patients with progressive emphysema and vasculitis

A

Purified human alpha 1 antitrypsin

49
Q

What is Alagille’s syndrome

A

An inherited autosomal dominant disease causing cholestasis in conjunction with cardiovascular, facial, ocular, skeletal and neurodevelopmental abnormalities

50
Q

What is another name for Alagille’s syndrome

A

Ateriohepatic dysplasia

51
Q

What is the incidence of Alagille’s syndrome in Caucasia populations

A

1 in 100000 live births with no gender differences

52
Q

What are the clinical features of Alagille’s syndrome

A

prolonged neonatal cholestasis

features of chronic liver disease, pruritus and xanthomata

53
Q

What are some extrahepatic features of Alagille’s syndrome

A 
Triangular face, broad forehead, saddle shaped nose, widely spaced deep set eyes, pointed chin
butterfly vertebra
renal abnormalities
neurodevelopmental delay 
malnutrition and failure tot thrive
54
Q

What are the investigations to determine Alagille’s syndrome

A 
Liver biochemistry and bioosy \
cardiovascular testing 
renal function 
slit lamp eye examination
spinal X rays 
serum bile acids 
cholesterol and triglycerides 
nutritional assessment
55
Q

What is the management for patients with Alagille’s syndrome

A

Careful provision of adequate calories, protein and fat soluble vitamins
Management of mineral deficiencies
severe hyperlipidaemia - cholestryamine and ursodeoxycholic acid
Antihistamines for pruritus

56
Q

What is the prognosis of Alagille’s sundrome

A

74% 10 year survival

57
Q

What are the investigations to determine Alagille’s syndrome

A 
Liver biochemistry and biopsy
cardiovascular testing 
renal function 
slit lamp eye examination
spinal X rays 
serum bile acids 
cholesterol and triglycerides 
nutritional assessment
58
Q

What is the prognosis of Alagille’s sundrome

A

74% 10 year survival

59
Q

What are autoimmune polyglandular sundromes

A

Autoimmune syndromes with symptoms affecting gland-bearing tissues and as such, the gut s often involved

60
Q

What is the diagnosis of autoimmune polyglandular syndromes based on

A

The pattern of glandular disease

61
Q

What are the porphyrias

A

Rare disorders of haem biosynthesis, characterised as either hepatic or erythropoeitic

62
Q

What are the common environmental factors for causing symptoms of porphyrias

A

Alcohol
iron excess
oestrogens
hep C infection

63
Q

What are the clinical features of porphyrias

A

Usually after puberty…
Photosensitive skin: pain, erythema bullae, hyperpigmentation
Acute relapsing -remitting neurological features : abdo pain

64
Q

What are three of the main investigations required for porphyrias

A

Blood, Urine and stool investigations

65
Q

What is the management for porphyrias

A

Avoid skin exposure and trauma : barrier creams
Avoidance of triggers
IV glucose
Administration of haem

66
Q

What is biliary atresia

A

A very rare congenital condition of unknown cause in which there is obliteration or discontinuity of the extrahepatic biliary system

67
Q

In which population is biliary atresia highest

A

Asian

68
Q

What are the clinical features of Biliary atresia

A 
Jaundice 
pale stools 
dark urine
failure to thrive 
splenomegaly
hepatomegaly
69
Q

What are the 2 main groups of biliary atresia

A

Isolated biliary atresia (65-90%)

Associated situs inversus or polyspenia/aplenia with or without other congenital anomalies

70
Q

What are the investigations involved for biliary atresia

A

Blood tests: Conjugater hyperbilirubinaemia
US to confirm diagnosis
Radioisotope scans of the liver
Liver biopsy

71
Q

What is the management for Biliary atresia

A

Surgical reconstruction of the extrahepatic biliary tract is possible if the intrahepatic biliary tree is unaffected
If the atresia is complete - liver transplantation

Gastrointestinal (LECTURE NOTES) (29 decks)

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