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Gastro > Inherited Conditions > Flashcards

Inherited Conditions Flashcards

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

Which gene is associated with haemochromatosis

A
  • human haemochromatosis protein (HFE) gene is located on chromosome 6
  • Auto-somal recessive
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3
Q

When do symptoms of haemochromatosis generally begin

A
  • around age 40

- later in woman due to menstruation

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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

Investigations for haemochromatosis

A
  • Serum ferritin
  • transferrin saturation: To rule out ferritin as acute phase reactant
  • Genetic testing if above are high
  • Liver biopsy
  • CT abdo/MRI
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6
Q

What stain is used in liver biopsy to test for Haemochromatosis

A
  • Perl’s stain can be used to establish the iron concentration in the parenchymal cells
  • used to be the gold standard
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7
Q

What are the complications of haemachromatosis

A
  • Type 1 Diabetes
  • Liver Cirrhosis
  • Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
  • Cardiomyopathy
  • Hepatocellular Carcinoma
  • Hypothyroidism
  • Chrondocalcinosis / pseudogout 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 Wilson’s disease

A

excessive accumulation of copper in the body and tissues

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10
Q

What gene is involved in Wilson’s Disease

A
  • “Wilson disease protein” on chromosome 13.
  • (ATP7B copper-binding protein)
  • Autosomal recessive
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11
Q

What are the features of Wilson’s Disease

A 
Hepatic problems (40%)
Neurological problems (50%)
Psychiatric problems (10%)
Haemolytic anaemia
Renal tubular damage leading to renal tubular acidosis
Osteopenia
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12
Q

What neurological symptoms can occur due to Wilsons disease

A
  • Concentration and coordination difficulties
  • dysarthria (speech difficulties)
  • dystonia (abnormal muscle tone
  • Parkinsonism
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13
Q

What are Kayser-Fleischer rings

A
  • deposition of copper in Descemet’s corneal membrane

-

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14
Q

How do you diagnose Wilson’s disease

A
  • serum caeruloplasmin (low)
  • Low serum copper
  • Kayser-Fleischer rings
  • MRI brain shows nonspecific changes
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15
Q

What is serum caeruloplasmin

A
  • protein that carries copper in the blood
  • can be falsely normal or elevated in cancer or inflammatory conditions
  • Not specific
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16
Q

What is the management of Wilson’s

A

Copper chelation:

  • Penicillamine
  • Trientene
17
Q

What is Alpha-1-antitrypsin deficiency

A
  • Inherited deficiency of a protease inhibitor: alpha 1 antitrypsin
  • excess of protease enzymes that attack the liver and lung tissue
  • Autosomal recessive
  • Chromosome 14
18
Q

What is Alpha-1-antitrypsin (A1AT)

A
  • Inhibits elastase, a enzyme secreted by neutraphils which digests connective tissue
19
Q

How do you investigate for Alpha-1-antitrypsin

A
  • Low serum alpha 1 anti-trypsin
  • Liver biopsy: cirrhosis and acid-Schiff-positive staining globules in hepatocytes
  • Genetic testing for the A1AT gene
  • High resolution CT thorax diagnoses pulmonary emphysema
20
Q

What is the management of Alpha-1-antitrypsin

A
  • Stop smoking
  • Symptomatic management
  • Organ transplant for end stage liver or lung disease
  • Monitoring for complications (e.g. hepatocellular carcinoma)

NICE recommend against the use of replacement alpha 1 antitrypsin, however the research and debate is ongoing regarding the possible benefits

21
Q

What is primary biliary cirrhosis

A
  • immune system attacks the small bile ducts within the liver causing obstruction of outflow of bile - cholestasis
  • Back-pressure of the bile obstruction and the overall disease process ultimately leads to fibrosis, cirrhosis and liver failure.
22
Q

Presentation of primary biliary sclerosis

A 
Fatigue
Pruritus
GI disturbance and abdominal pain
Jaundice
Pale stools
Xanthoma and xanthelasma
Signs of cirrhosis and failure (e.g. ascites, splenomegaly, spider naevi)
23
Q

What are the associations of Primary biliary cirrhosis

A 
Middle aged women
Other autoimmune diseases (e.g. thyroid, coeliac)
Rheumatoid conditions (e.g. systemic sclerosis, Sjogrens and rheumatoid arthritis)
24
Q

Investigations for primary biliary Cirrhosis

A
  • LFTs: ALP raised initially then others
  • Auto-antibodies
  • ASR: raised
  • IgM: raised
  • Liver biopsy
25
Q

What auto-antibodies are involved in primary biliary cirrhosis

A
  • 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
26
Q

What is the treatment of primary biliary cirrhosis

A
  • Ursodeoxycholic acid
  • Colestyramine
  • Liver transplant in end stage liver disease
  • Immunosuppression (e.g. with steroids) is considered in some patients
27
Q

What does ursodeoxycholic acid do

A

reduces the intestinal absorption of cholesterol

28
Q

What does colestyramine do

A

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

29
Q

What are the complications of primary biliary cirrhosis

A 
Symptomatic pruritus
Fatigue
Steatorrhoea (greasy stools due to lack of bile salts to digest fats)
Distal renal tubular acidosis
Hypothyroidism
Osteoporosis
Hepatocellular carcinoma
30
Q

What is the disease progression in primary biliary cirrhosis

A

Disease course and symptoms vary significantly. Some people live decades without symptoms. The most important end results of the disease are advanced liver cirrhosis and portal hypertension.

31
Q

What is primary sclerosing cholangitis

A
  • intrahepatic or extrahepatic ducts become strictured and fibrotic causing an obstruction of bile flow
  • Sclerosis refers to the stiffening and hardening of the bile ducts, and cholangitis is inflammation of the bile ducts
32
Q

What are the risk factors for primary sclerosing cholangitis

A

Male
Aged 30-40
Ulcerative Colitis
Family History

33
Q

What is the presentation of primary sclerosing cholangitis

A 
Jaundice
Chronic right upper quadrant pain
Pruritus
Fatigue
Hepatomegaly
34
Q

What investigations should you complete for Primary sclerosing cholangitis

A
  • LFTs: ALP > ALT

- Auto-antibodies: pANCA, ANA, aCL

35
Q

Which autoantibodies are associated with primary sclerosing cholangitis

A 
Antineutrophil cytoplasmic antibody (p-ANCA) in up to 94%
Antinuclear antibodies (ANA) in up to 77%
Anticardiolipin antibodies (aCL) in up to 63%
36
Q

How do you diagnose primary sclerosing cholangitis

A
  • MRCP: show bile duct lesions or strictures.
37
Q

What are the associations and complications of primary sclerosing cholangitis

A 
Acute bacterial cholangitis
Cholangiocarcinoma: 10-20% of cases
Colorectal cancer
Cirrhosis and liver failure
Biliary strictures
Fat soluble vitamin deficiencies
38
Q

What is the management of primary sclerosing cholangitis

A
  • ERCP: dilate and stent any strictures
  • Ursodeoxycholic acid i
  • Colestyramine
  • Liver transplant: curative but own problems
39
Q

What is ERCP

A

inserting a camera through the persons throat, oesophagus, stomach and duodenum to the a point in the duodenum where the bile ducts empty into the GI tract. They then go through the sphincter of Oddi and into the ampulla of Vater. From the ampulla of Vater they can enter into the bile ducts and use X-rays and injecting contrast to identify any strictures. These strictures can then be dilated and stented during the same procedure providing improved flow through those ducts and an improvement in symptoms.

Gastro (9 decks)

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