Abdomen Flashcards
(44 cards)
How is haemochromatosis inherited?
Autosomal recessive
Inheritance of mutated HFE gene
(however there is variable penetrance - so presence of mutation doesn’t always lead to disease)
Investigations in haemochromatosis
Bedside:
- ECG: arrhythmia (from cardiomyopathy)
- Urine: glycosuria
Bloods:
- FBC (usually normal)
- LFTs, albumin, INR
- Ferritin and transferrin (both raised)
- HbA1c
- Genotyping
Imaging:
- US liver
- Fibroscan
- Ferriscan (specialised MRI)
- Echo to assess cardiomyopathy
- Plain films of affected joints
Liver biopsy not needed!
Management of haemochromatosis
MDT - Hepatology +/- haematology
Venesection
- Initiation to bring transferrin to an acceptable level
- Then maintenance venesection
Management of complications:
- T2DM
- Cardiomyopathy
- Cirrhosis (diuresis, HCC screening, nutrition etc)
Causes of haemochromatosis
Primary = hereditary haemochromatosis
Secondary = acquired haemochromatosis
- Seen in multiple transfusions e.g. haemoglobinopathy
Hereditary haemchromatosis: examination
Tanned skin
CBG monitor
CLD signs
May have hepatomegaly
Hereditary spherocytosis - presentation
Splenomegaly
Anaemia -> fatigue
Gallstone
Leg ulceration
Mechanism of haemolysis in hereditary spherocytosis
Abnormal protein coding resulting in spherical RBCs (instead of biconcave)
These cells are prone to haemolysis, especially in the spleen
Hereditary spherocytosis inheritance
autosomal dominant
splenomegaly DDx
Massive spleen:
- CML
- Myelofibrosis
- Malaria
Otherwise:
1) Lymphocytosis
- Lymphoma (acute or chronic)
- Reactive (infection eg EBV)
2) Extra-medullary haematopoiesis
- Chronic haemolytic anaemia eg hereditary spherocytosis
3) Inflammatory
- Felty’s syndrome (RA + splenomegaly + neutropenia)
- Amyloidosis (infiltrative)
4) Congestive
- Portal hypertension (usually with hepatomegaly)
Complications of hereditary spherocytosis
- Gallstones
- Chronic anaemia
- Aplastic anaemia
Investigations in hereditary spherocytosis
- FBC, U+Es, CRP, LFTs
- Blood film
- Split bilirubin
Haemolysis screen:
- increased reticulocytes
- raised LDH
- low haptoglobin
- normal DAT
Specific testing:
- EMA binding
Hereditary spherocytosis management
- Folic acid supplementation
- RBCs as needed
Severe cases:
- Splenectomy, typically with cholecystectomy
- Vaccinations again encapsulated organisms
Coeliac disease - investigations
Diagnostic:
- Anti-TTG antibodies with IgA levels
-can have false negative if IgA deficiency
-need to eat gluten for preceding 6 weeks
- If equivocal result - proceed to duodenal biopsy
- villous atrophy and crypt hypertrophy
General testing:
- FBC, U+Es, CRP, LFTs
- B12, folate, vitamin D
Coeliac disease: management
Patient education is key
Gluten eradication from diet (refer to dietitian)
Support with iron, B12 and vitamin D supplementation if needed
Complications of coeliac disease
- Iron def anaemia
- B12, folate, vitamin D deficiency
- Functional hyposplenism (need winter vaccinations)
- Malignancies: enteropathy-associated T-cell lymphoma and small bowel cancer
- Skin: dermatitis herpetiformis
When is simultaneous pancreas-kidney transplant typically performed?
Usually T1DM
Where diabetes has led to end stage renal failure
Graft choice in SPK
Usually the pancreas and kidney are both donated from a single deceased donor (usually brainstem death)
Can also be pancreas transplant from a deceased donor + kidney transplant from a live donor
SPK - examination
Midline laparotomy scar AND Rutherford-morrison scar
There may be 2 Rutherford Morrison scars, usually pancreas in LIF but usually this wouldnt be palpable
Serum ascites albumin gradient interpretation
SAAG >1.1g/L = portal hypertension
- Cirrhosis
- Congestive cardiac failure
SAAG <1.1g/L
- Nephrotic syndrome
- Malignancy
- Pancreatitis
- Infection e.g. TB
Non invasive liver screen
Viral serology
- Hep B surface antigen
- Hep C antibody (IgG)
- Hep D
- Hep A and E - acute hepatitis
Autoimmune profile:
- ANA, AMA, anti-smooth muscle, anti-LKM
- Immunoglobulins
Metabolic screen:
- Ferritin and transferrin sats
- Raised copper and low caeruloplasmin
- Alpha 1 antitrypsin
PSC investigations and management
Investigations:
- Typically normal antibodies
- Can be p-ANCA +ve
- Cholestatic LFTs with characteristic strictures on MRCP giving a ‘beaded’ appearance
- Autoimmune screen: coeliac, thyroid
- Imaging: US liver, MRCP
Management:
- UDCA
- ERCP and stenting of strictures
- Colonoscopy for malignancy screening
- HCC monitoringAN
PBC investigations and management
Investigations:
- Cholestatic LFTs and AMA +ve
- US liver
- Consider MRCP
- Fibroscan
- Send thyroid, coeliac and sjogrens screen
Management
- UDCA
- If not responding, refer to tertiary centre for consideration of 2nd line agents e.g. OCA, BF
Causes of palpable liver transplant
Size mismatch
Hepatitis - graft dysfunction (tender edge)
Causes of splenomegaly
Massive: 5 M’s
- Myelofibrosis
- CML
- AML
- Malaria
- leishManiasis
Moderate:
- Myeloproliferative: AML, CML
- Lymphoproliferative: ALL, CLL
- Congestive (portal hypertension)
- Inflammatory e.g. amyloidosis
Mild:
- Haemolysis e.g. hereditary spherocytosis
- Infection e.g. EBV, bacterial endocarditis
- Inflammatory e.g. SLE
