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Medicine Y3 TCD 13-24 > ZTF Gastro not covered > Flashcards

ZTF Gastro not covered Flashcards

Haemochromatosis, Wilsons Disease, alpha-1 anti trypsin, PBC, PSC

1
Q

What is haemochromatosis

A

iron storage disorder that results in excessive total body iron and deposition of iron in tissues

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2
Q

what kind of inheritance pattern is haemochromatosis and which gene is involved

A

autosomal recessive
The human haemochromatosis protein (HFE) gene is located on chromosome 6.
this gene is important at regulating iron metabolism

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3
Q

in which age range of person does haemochromatosis present

A

after the age of 40, but later in females due to menstruation acting to regularly eliminate iron from the body

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4
Q

what are the symptoms of haemochromatosis

A

Chronic tiredness
Joint pain
Pigmentation (bronze / slate-grey discolouration)
Hair loss
Erectile dysfunction
Amenorrhoea
Cognitive symptoms (memory and mood disturbance)

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5
Q

what is the main diagnostic for haemochromatosis

A

serum ferritin levels

transferrin saturation will be high as it is iron overload

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6
Q

name some other reasons that ferritin may be high

A

inflammation

non alcoholic fatty liver disease

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7
Q

name the main complications of haemochromatosis

A

Type 1 Diabetes (iron affects the functioning of the pancreas)

Liver Cirrhosis

Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)

Cardiomyopathy (iron deposits in the heart)

Hepatocellular Carcinoma

Hypothyroidism (iron deposits in the thyroid)

Chrondocalcinosis / pseudogout (calcium deposits in joints) causing arthritis

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8
Q

what is the management of haemochromatosis

A

Venesection (a weekly protocol of removing blood to decrease total iron)
Monitoring serum ferritin
Avoid alcohol
Genetic counselling
Monitoring and treatment of complications

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9
Q

What is Wilsons disease

A

excessive accumulation of copper in the body and tissues

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10
Q

what is the inheritance pattern in Wilsons disease and which chromosome does it affect

A

“Wilson disease protein” on chromosome 13

autosomal recessive

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11
Q

What are the 3 main features of Wilsons

A 
Hepatic problems (40%)
Neurological problems (50%)
Psychiatric problems (10%)
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12
Q

what are the main hepatic problems in Wilsons

A

chronic hepatitis and eventually liver cirrhosis

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13
Q

what are the main neurological problems in Wilsons

A

concentration and co-ordination difficulties
dysarthria (speech difficulty)
dystonia (abnormal muscle tone)
if deposits in basal ganglia then can get Parkinsonism

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14
Q

what are the main psychiatric symptoms in Wilsons

A

mild depression to full psychosis

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15
Q

what are the rings called in the cornea that are characteristic of Wilsons disease

A

Kayser-Fleischer rings

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16
Q

name other features of Wilsons disease

A

Haemolytic anaemia
Renal tubular damage leading to renal tubular acidosis
Osteopenia (loss of bone mineral density)

17
Q

how is Wilsons diagnosed

A

The initial investigation of choice is serum caeruloplasmin. A low serum caeruloplasmin is suggestive of Wilson disease. This is the protein that carries copper in the blood.

liver biopsy for liver copper content is gold standard

18
Q

what is the management of Wilsons

A

Treatment is with copper chelation using:

Penicillamine
Trientene

19
Q

what is the pathophysiology of Alpha-1-antitrypsin deficiency

A

Elastase is an enzyme secreted by neutrophils.

This enzyme digests connective tissues. Alpha-1-antitrypsin (A1AT) is mainly produced in the liver, travels around the body and offers protection by inhibiting the neutrophil elastase enzyme.

A1AT is coded for on chromosome 14. In A1AT deficiency, there is an autosomal recessive defect in the gene for A1AT.

20
Q

what two main organs are affected by alpha-1-antitrypsin deficiency and what does this lead to

A

Liver cirrhosis after 50 years old

Bronchiectasis and emphysema in the lungs after 30 years old

21
Q

Alpha-1-antitrypsin deficiency in liver means that liver damage progresses to cirrhosis over time and this increases the risk of what cancer

A

HCC

22
Q

how is Alpha-1-antitrypsin deficiency diagnosed

A

Low serum-alpha 1-antitrypsin (screening test of choice)

Liver biopsy shows cirrhosis and acid-Schiff-positive staining globules (this stain highlights the mutant alpha-1-antitrypsin proteins) in hepatocytes

Genetic testing for the A1AT gene

High resolution CT thorax diagnoses bronchiectasis and emphysema

23
Q

what is the management of Alpha-1-antitrypsin deficiency

A

Stop smoking (smoking dramatically accelerates emphysema)
Symptomatic management
NICE recommend against the use of replacement alpha-1-antitrypsin, however the research and debate is ongoing regarding the possible benefits
Organ transplant for end-stage liver or lung disease
Monitoring for complications (e.g. hepatocellular carcinoma) - AFP

24
Q

what is primary binary cirrhosis (PBC)

A

the immune system attacks the small bile ducts within the liver.

The first parts to be affected are the intralobar ducts, also known as the Canals of Hering.

This causes obstruction of the outflow of bile, which is called cholestasis.

The back-pressure of the bile obstruction and the overall disease process ultimately leads to fibrosis, cirrhosis and liver failure.

25
Q

what does the build up of the following in the blood cause

bile acids
bilrubin
raised cholesterol

A

itching
jaundice
xanthelasma

26
Q

what are the associations with PBC

A 
Middle aged women
Other autoimmune diseases (e.g. thyroid, coeliac)
Rheumatoid conditions (e.g. systemic sclerosis, Sjogrens and rheumatoid arthritis)
27
Q

how is PBC diagnosed

which LFT measurement is raised
which autoantibody
what other aspects of the blood

A

Liver Function Tests

Alkaline phososphatase is first liver enzyme to be raised (as with most obstructive pathology)
Other liver enzymes and bilirubin are raised in later disease

Autoantibodies

Anti-mitochondrial antibodies is the most specific to PBC and forms part of the diagnostic criteria
Anti-nuclear antibodies are present in about 35% of patients

Other blood tests:

ESR raised
IgM raised

Liver biopsy is used in diagnosing and staging the disease

28
Q

what is the treatment of PBC

A

Ursodeoxycholic acid reduces the intestinal absorption of cholesterol

Colestyramine is a bile acid sequestrate in that it binds to bile acids to prevent absorption in the gut and can help with pruritus due to raised bile acids

Liver transplant in end stage liver disease

Immunosuppression (e.g. with steroids) is considered in some patients

29
Q

what is primary sclerosing cholangitis (PSC)

A

a condition where the intrahepatic or extrahepatic ducts become strictured and fibrotic.

This causes an obstruction to the flow of bile out of the liver and into the intestines.

Sclerosis refers to the stiffening and hardening of the bile ducts, and cholangitis is inflammation of the bile ducts.

Chronic bile obstruction eventually leads to liver inflammation (hepatitis), fibrosis and cirrhosis.

30
Q

which GI condition is associated with PSC

A

ulcerative colitis, with around 70% of cases being alongside established ulcerative colitis

31
Q

what are the risk factors of PSC

A

Male
Aged 30-40
Ulcerative Colitis
Family History

32
Q

how does PSC present

A 
Jaundice
Chronic right upper quadrant pain
Pruritus
Fatigue
Hepatomegaly
33
Q

what kind of picture with LFTs show in PSC

A

cholestatic picture

ALP will be the most deranged

34
Q

no antibodies are highly sensitive or specific to PSC but which ones may be raised in PSC, suggesting it might respond well to immunosuppression

A 
Antineutrophil cytoplasmic antibody (p-ANCA) in up to 94%
Antinuclear antibodies (ANA) in up to 77%
Anticardiolipin antibodies (aCL) in up to 63%
35
Q

what is the gold standard for diagnosis of PSC

A

MRCP, which is short for magnetic resonance cholangiopancreatography. This involves an MRI scan of the liver, bile ducts and pancreas. In primary sclerosis cholangitis it may show bile duct lesions or strictures.

36
Q

what are the main associations and complications of PSC

A 
Acute bacterial cholangitis
Cholangiocarcinoma develops in 10-20% of cases
Colorectal cancer
Cirrhosis and liver failure
Biliary strictures
Fat soluble vitamin deficiencies
37
Q

name me the fat soluble vitamins

A

A
D
E
K

38
Q

what is the management of PSC

A

Liver transplant can be curative but is associated with its own problems (around 80% survival at 5 years).

ERCP can be used to dilate and stent any strictures
Ursodeoxycholic acid is used and may slow disease progression
Colestyramine is a bile acid sequestrate in that it binds to bile acids to prevent absorption in the gut and can help with pruritus due to raised bile acids
Monitoring for complications (such as cholangiocarcinoma, cirrhosis and oesophageal varices)

Medicine Y3 TCD 13-24 (32 decks)

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