Random Flashcards
Alcoholic ketoacidosis
- non-diabetic euglycaemic form of ketoacidosis
- It occurs in people who regularly drink large amounts of alcohol
Alcoholic ketoacidosis : Pathophysiology
- Often alcoholics will not eat regularly and may vomit food that they do eat, leading to episodes of starvation.
- Once the person becomes malnourished, after an alcohol binge the body can start to break down body fat, producing ketones.
- Hence the patient develops a ketoacidosis.
Alcoholic ketoacidosis : Clinical presentation
Ittypically presents with a pattern of:
* Metabolic acidosis
* Elevated anion gap
* Elevated serum ketone levels
* Normal or low glucose concentration
Alcoholic ketoacidosis :Management
The most appropriate treatment is aninfusion of saline & thiamine.
Thiamine is required to avoid Wernicke encephalopathy or Korsakoff psychosis
Variceal bleed : When is platelet transfusion indicated?
Active bleeding platelet count of ;
< 50 x 10*9/litre
Variceal bleed : When is FFP tranfusion indicated?
- Fibrinogen <1g/litre
- PT OR APTT of >1.5x
Haemochromatosis : Definition
autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation
Variceal bleed : When is Prothrombin complex concentrate tranfusion indicated?
- prothrombin complex concentrate to patients who are taking warfarin and actively bleeding
Haemochromatosis : Investigations
- transferrin saturationis considered the most useful marker
- ferritin should also be measured but is not usually abnormal in the early stages of iron accumulation
3.testing family members- genetic testing for HFE mutation
- transferrin saturation > 55% in men or > 50% in women
- raised ferritin (e.g. > 500 ug/l) and iron
- low TIBC
Haemochromatosis : Management
- venesectionis the first-line treatment
- monitoring adequacy of venesection:transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l
- desferrioxaminemay be used second-line
Wilson’s disease
- autosomal recessivedisorder characterised by excessive copper deposition in the tissues.
- Metabolic abnormalities include increased copper absorption from the small intestine and decreased hepatic copper excretion.
Wilson’s disease : Incidence
The onset of symptoms is usually between 10 - 25 years.
Wilson’s disease : Clinical features
Featuresresult from excessive copper deposition in the tissues, especially the brain, liver and cornea:
* liver: hepatitis, cirrhosis
* neurological:
* basal ganglia degeneration: in the brain, most copper is deposited in the basal ganglia, particularly in the putamen and globus pallidus
* speech, behavioural andpsychiatric problemsare often the first manifestations
* also:asterixis,chorea,dementia, parkinsonism
* Kayser-Fleischer rings
* green-brown rings in the periphery of the iris
* due to copper accumulation in Descemet membrane
* present in around 50% of patients with isolated hepatic Wilson’s disease and 90% who have neurological involvement
Wilson’s disease : Investigations
- slit lamp examination for Kayser-Fleischer rings
- reduced serum caeruloplasmin
-
reduced total serum copper(counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)
- free (non-ceruloplasmin-bound) serum copper is increased
- increased 24hr urinary copper excretion
- the diagnosis is confirmed by genetic analysis of the ATP7B gene
Wilson’s disease : Management
Management
* penicillamine(chelates copper) has been the traditional first-line treatment