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

Hereditary and congenital liver diseases Flashcards

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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
All patients being tested for autoimmune hepatitis should also be tested for what
Wilson'd disease
26
What is the hallmark of Wilson disease
A low caeruloplasmni
27
What is the main management for Wilson disease
Chelation therapy Penicillamine which increases urinary excretion of copper Pyridoxine is given in conjunction iwth penicillamine Second line: Trientine zinc reduction of dietary copper
28
What is alpha 1 antitrypsin
A protease inhibitor that control tissue degradation by inhibiting a large number of proteases including trypsin, plasmin etc.
29
Where is alpha 1 antitrypsin produced
The liver
30
Where is alpha 1 antitrypsin produced
The liver
31
How does liver disease occur in alpha 1 antitrypsin deficiency
The accumulation of aggregated alpha 1 antitrypsin within the hepatocyte endoplasmic reticulum
32
Lung injury in alpha 1 antitrypsin deficiency is a result of what
Loss of protease inhibition
33
What is also associated with alpha 1 antitrypsin deficiency
COPD
34
How is COPD related to alpha 1 antitrypsin deficiency
It is due to the loss of the normal antiproteolytic defences against elastase
35
alpha 1 antitrypsin is encoded for by what
By a single gene located on chromosome 14
36
What are the clinical features of alpha 1 antitrypsin deficiency in childhood
``` Pruritus hepatomegaly conjugated hyperbilirubinaemia increased serum aminotransferase cholestasis can be marked ```
37
What happens to liver disease in alpha 1 antitrypsin deficiency in childhood
It often resolves spontaneously after 6 months
38
In adults with alpha 1 antitrypsin deficiency, what is there a high risk of
cirrhosis and HCC
39
How can alpha 1 antitrypsin deficiency be diagnosed
By a marked reduction or absence of the alpha-1- globulin band in an agarose gel electrophoresis
40
What is the management for alpha 1 antitrypsin deficient patients
Regularly assessed with LFT Monitor for renal disease and vasculitis CXR and pulmonary function assessmet Smoking cessation
41
What can be given to patients with progressive emphysema and vasculitis
Purified human alpha 1 antitrypsin
42
What condiiton is associated with iron overload and may occur in association with haemochromatosis
Porphyria cutanea tarda (PCT)
43
During screening of HHC, what should be carried out
History and Examination Transferrin saturation Serum ferritin
44
What is Wilson's disease
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
All patients being tested for autoimmune hepatitis should also be tested for what
Wilson disease
46
What is the main management for Wilson disease
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
What is the management for alpha 1 antitrypsin deficient patients
Regularly assessed with LFT Monitor for renal disease and vasculitis CXR and pulmonary function assessment Smoking cessation
48
What can be given to patients with progressive emphysema and vasculitis
Purified human alpha 1 antitrypsin
49
What is Alagille's syndrome
An inherited autosomal dominant disease causing cholestasis in conjunction with cardiovascular, facial, ocular, skeletal and neurodevelopmental abnormalities
50
What is another name for Alagille's syndrome
Ateriohepatic dysplasia
51
What is the incidence of Alagille's syndrome in Caucasia populations
1 in 100000 live births with no gender differences
52
What are the clinical features of Alagille's syndrome
prolonged neonatal cholestasis | features of chronic liver disease, pruritus and xanthomata
53
What are some extrahepatic features of Alagille's syndrome
``` 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
What are the investigations to determine Alagille's syndrome
``` Liver biochemistry and bioosy \ cardiovascular testing renal function slit lamp eye examination spinal X rays serum bile acids cholesterol and triglycerides nutritional assessment ```
55
What is the management for patients with Alagille's syndrome
Careful provision of adequate calories, protein and fat soluble vitamins Management of mineral deficiencies severe hyperlipidaemia - cholestryamine and ursodeoxycholic acid Antihistamines for pruritus
56
What is the prognosis of Alagille's sundrome
74% 10 year survival
57
What are the investigations to determine Alagille's syndrome
``` Liver biochemistry and biopsy cardiovascular testing renal function slit lamp eye examination spinal X rays serum bile acids cholesterol and triglycerides nutritional assessment ```
58
What is the prognosis of Alagille's sundrome
74% 10 year survival
59
What are autoimmune polyglandular sundromes
Autoimmune syndromes with symptoms affecting gland-bearing tissues and as such, the gut s often involved
60
What is the diagnosis of autoimmune polyglandular syndromes based on
The pattern of glandular disease
61
What are the porphyrias
Rare disorders of haem biosynthesis, characterised as either hepatic or erythropoeitic
62
What are the common environmental factors for causing symptoms of porphyrias
Alcohol iron excess oestrogens hep C infection
63
What are the clinical features of porphyrias
Usually after puberty... Photosensitive skin: pain, erythema bullae, hyperpigmentation Acute relapsing -remitting neurological features : abdo pain
64
What are three of the main investigations required for porphyrias
Blood, Urine and stool investigations
65
What is the management for porphyrias
Avoid skin exposure and trauma : barrier creams Avoidance of triggers IV glucose Administration of haem
66
What is biliary atresia
A very rare congenital condition of unknown cause in which there is obliteration or discontinuity of the extrahepatic biliary system
67
In which population is biliary atresia highest
Asian
68
What are the clinical features of Biliary atresia
``` Jaundice pale stools dark urine failure to thrive splenomegaly hepatomegaly ```
69
What are the 2 main groups of biliary atresia
Isolated biliary atresia (65-90%) | Associated situs inversus or polyspenia/aplenia with or without other congenital anomalies
70
What are the investigations involved for biliary atresia
Blood tests: Conjugater hyperbilirubinaemia US to confirm diagnosis Radioisotope scans of the liver Liver biopsy
71
What is the management for Biliary atresia
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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