Gastroenterology Flashcards
(71 cards)
Fabry disease
X-linked recessive lipid storage disorder in which there a deficiency in the fat enzyme alpha-galactosidase
Clinical features of Fabry disease include:
Acroparaesthesia: tingling, burning pain in the hands and feet triggered by stress such as emotion, extreme temperatures, or exercise
Angiokeratoma corporis diffusum: lightly verrucous, deep-red to blue-black papules on the trunk (in the bathing trunk distribution)
Cardiac: mitral valve prolapse or regurgitation usually, but any valvular heart defect can occur
Strokes: including young strokes/TIAs
Chronic Kidney Disease: proteinuria usually, can present late in fulminant renal failure
Gaucher’s disease
Autosomal recessive disorder characterised by a deficiency of glucocerebrosidase
Primary biliary cholangitis - diagnosis
anti-mitochondrial antibodies (AMA) M2
raised serum IgM
First-line in PBC
Ursodeoxycholic acid
How to diagnose Small Bowel Bacterial Overgrowth Syndrome
Hydrogen breath test
What is useful for diagnosing and monitoring the severity of liver cirrhosis
Transient elastography (FibroScan)
Main causes of Liver Cirrhosis
Alcohol
Non-alcoholic fatty liver disease (NAFLD)
Viral hepatitis (B and C)
Screening for haemochromatosis
General population: transferrin saturation > ferritin
Family members: HFE genetic testing
Treatment of small bowel bacterial overgrowth syndrome.
Rifaximin
Wilson’s disease
Autosomal recessive disorder characterised by excessive copper deposition in the tissues.
Defect in the ATP7B gene located on chromosome 13
Management of Wilson’s Disease
Penicillamine (chelates copper)
SAAG > 11g/L
(Indicates portal hypertension)
Liver disorders:
Cirrhosis/alcoholic liver disease
Acute liver failure
Liver metastases
Cardiac:
Right heart failure
Constrictive pericarditis
Other causes:
Budd-Chiari syndrome
Portal vein thrombosis
Veno-occlusive disease
Myxoedema
SAAG <11g/L
Hypoalbuminaemia:
Nephrotic syndrome
Severe malnutrition (e.g. Kwashiorkor)
Malignancy:
Peritoneal carcinomatosis
Infections:
Tuberculous peritonitis
Histology of Crohn’s Disease
Inflammation in all layers from mucosa to serosa
Goblet cells
Granulomas
Vitamin A - functions
Retinol
Converted into retinal, an important visual pigment
Important in epithelial cell differentiation
Antioxidant
HELLP
Haemolysis
Elevated Liver enzymes
Low Platelets
Dubin-Johnson syndrome
Autosomal recessive disorder
Raised Conjugated Bilirubin
(conjugated, therefore present in urine)
Zollinger-Ellison syndrome
Excessive levels of gastrin secondary to a gastrin-secreting tumour.
- Duodenum
- Pancreas
Diagnosis of Zollinger-Ellison syndrome
Fasting gastrin levels
Secretin stimulation test
Treatment of Pyogenic liver abscess
Drainage (typically percutaneous)
+
Amoxicillin + ciprofloxacin + metronidazole
Most common organisms found in pyogenic liver abscesses are:
Staphylococcus aureus in children
E-coli in adults.
Gastrectomy: complications
Dumping syndrome
Food of high osmotic potential moves into small intestine causing fluid shift
Iron-deficiency anaemia
Osteoporosis/osteomalacia
Vitamin B12 deficiency
Smoking and IBD
Smoking makes Crohn’s worse
But may help ulcerative colitis