Gastrointestinal including liver Flashcards
Conditions and presentation
Acute pancreatitis symptoms
- stabbing-like, epigastric pain radiating to the back.
- foetal position is usally taken
- associated with vomiting
- assoicated with alcohol consumption
Clinical signs of pancreatitis
- hypovolaemia
- fever
- Non-specific guarding
- Grey-Turner’s sign (bruising along the flanks)
- Cullen’s sign, characterized by bruising around the peri-umbilical area
Pancreatitis investigations
- FBC,urea and electrolytes
- LFTs
- Lipase and amylase
- US
- MRCP
- ERCP
- CT pancreas
Pancrease Mnemonic
PaO2 < 8kPa (60mmHg)
Age > 55 years
Neutrophils - WBC >15 x109/l
Calcium < 2mmol/l
Renal function - Urea > 16mmol/l
Enzymes - AST/ALT > 200 iu/L or LDH > 600 iu/L
Albumin < 32g/l
Sugar - Glucose >10mmol/L
Managment of pancreatitis
- Aggressive fluid resuscitation with crystalloids to maintain urine output > 30 mL/hour.
- Catheterisation.
- Analgesia: Strong opioids are often necessary.
- Anti-emetics.
complications of pancreatitis
- Peripancreatic Fluid Collection
- Pdeudocyst
- pancreatic abcess
- pancreatic necrosis
- haemorrhage
- ARDS
- Hypovolemic
- DM
Porphyria
pectrum of disorders arising from abnormalities in the haem synthesis pathway, which result from either structural or functional alterations in the enzymes involved.
Porphyria symptoms. (5)
Abdominal pain
Nausea
Confusion
Hypertension
Seizures
Signs and symptoms of Porphyria
- Urine may appear red/purple
- Urinary porphobilinogen levels (keep away from light)
Managment of Porphyria
supportive
6-12 hours after withdrawal symptoms of alcohol
- Insomnia
- Tremors
- Anxiety
- Agitation
- Nausea and vomiting
- Sweating
- Palpitations
12-24 hours post-drink
hallucinations
72-hours post drink
Delusions
Confusion
Seizures
Tachycardia
Hypertension
Hyperthermia
alcohol withdrawal investigations
- AUDIT and SADQ questionnaires to assess the severity of alcohol misuse.
- Blood tests to assess liver function and electrolyte balance.
- Neuroimaging may be considered in cases of persistent confusion or seizures.
INDICATIONS FOR INPATIENT ALCOHOL WITHDRAWAL TREATMENT
- Patients drinking >30 units per day
- Scoring over 30 on the SADQ score
- High risk of alcohol withdrawal seizures (previous alcohol withdrawal seizures or delirium tremens, or history of epilepsy)
- Concurrent withdrawal from benzodiazepines
- Significant medical or psychiatric comorbidity
- Vulnerable patients
- Patients under 18
Managment of alcohol withdrawal
- chlordiazepoxide
- Pabrinex
- intravenous lorazepam or oral lorazepam
Cyclizine
- H1 receptor antagonist
- Vestibular disturbances
Domperidone, metoclopramide
- D2 receptor antagonist
- Post-operative nausea, motion sickness
Ondansetron
- 5HT3 receptor antagonist
- Acute gastroenteritis, post-operative nausea, radiotherapy- or chemotherapy-induced
Hyoscine hydrobromide
- Anti-muscarinics
- Vestibular disturbances, palliative care
When to avoid Metoclopramide
- bowel obstruction
When to avoid Haloperidol
Parkinson’s disease and prolonged QT interval.
Prochlorperazine and clorpromazine avoid using when
- Parkinson’s disease symptoms
- young women as causes dystonia
Cyclizine avoidance when?
acute porphyurias
Zollinger Ellison syndrome
- Tumour that sits in the pancreas or the duodenum.
- Uncontrolled release of gastrin from a gastrinoma,
- development of multiple ulcerations in the stomach and duodenum.
Zollinger Ellison signs and syptoms
- Abdominal pain, particularly in the epigastric region
- Diarrhoea
- Ulceration of the duodenum, which can often lead to gastrointestinal bleeding
- Non-responsiveness to simple Proton Pump Inhibitors (PPIs)
Zollinger Ellison investigations
- screening for elevated gastrin levels.
- secretin stimulation test
- Somatostatin receptor scintigraphy is the preferred imaging modality, as conventional
- CT scans may often miss the tumour.
Endoscopy is also performed to identify duodenal ulcers.
Zollinger Ellison syndrome managment
- surgical resection
- PPIs
- chemotherapy and somatostatin analogues may be considered.
Ascites
abnormal accumulation of fluid within the peritoneal cavity.
Symptoms of ascities
- Abdominal distension
- Abdominal discomfort or pain
- Dyspnea
- Reduced mobility
- Anorexia and early satiety due to pressure on the stomach
- Tense abdomen
- Shifting dullness
What is the term for the position of a structure relative to the front of the body?
Anterior relations
What is the term for the position of a structure relative to the back of the body?
Posterior relations
What is the vertebral level of T12?
12th thoracic vertebra
What is the vertebral level of L4?
4th lumbar vertebra
List the vertebral bodies from L1 to L4
- L1
- L2
- L3
- L4
What structure connects the stomach to the liver?
Lesser omentum
Which organ is primarily responsible for detoxification and metabolism?
Liver
What vein drains the left kidney?
Left renal vein
What vein drains the gastrointestinal tract and connects to the superior mesenteric vein?
Inferior mesenteric vein
Which part of the duodenum is referred to as the third part?
Third part of duodenum
Which organ is located behind the stomach and is involved in digestion?
Pancreas
What layer of the abdominal cavity lines the abdominal wall?
Parietal peritoneum
What is the term for the space within the abdomen that contains the intestines, liver, and other organs?
Peritoneal cavity
What is the name of the right portion of the diaphragm?
Right crus of the diaphragm
What is the name of the lymphatic structure that collects lymph from the lower body?
Cisterna chyli
What vein is responsible for draining blood from the thoracic wall into the superior vena cava?
Azygos vein
What does IVC stand for in the context of venous drainage?
Inferior vena cava
What is the fourth part of the duodenum called?
4th part of duodenum
What is the term for the bend between the duodenum and jejunum?
Duodenal-jejunal flexure
What structure is part of the sympathetic nervous system located on the left side of the vertebral column?
Left sympathetic trunk
What are the right lateral relations of a structure?
Right lateral relations
What are the left lateral relations of a structure?
Left lateral relations
What are the branches of the abdominal aorta? (10)
Inferior phrenic
Coeliac
Superior mesenteric
Middle suprarenal
Renal
Gonadal
Lumbar
Inferior mesenteric
Median sacral
Common iliac
These branches supply various organs and structures in the abdominal region.
At what level does the abdominal aorta primarily branch?
T12 (Upper border), T12, L1, L1, L1-L2, L2, L1-L4, L3, L4, L4
The levels indicate the vertebral locations where the branches emerge.
Which abdominal aortic branches are paired? (4)
Renal, Gonadal, Lumbar, Common iliac
Paired branches typically supply symmetrical structures on either side of the body.
Which abdominal aortic branches are unpaired?
Coeliac, Superior mesenteric, Inferior mesenteric, Median sacral
Unpaired branches usually supply midline structures in the abdomen.
What type of branches are the Inferior phrenic and Lumbar?
Parietal
Parietal branches supply the body wall.
What type of branches are the Coeliac and Superior mesenteric?
Visceral
Visceral branches supply the organs within the abdominal cavity.
Fill in the blank: The _______ branch of the abdominal aorta is responsible for supplying the diaphragm.
Inferior phrenic
True or False: The Middle suprarenal branch is a paired branch of the abdominal aorta.
False
The Middle suprarenal branch is unpaired.
Which branches of the abdominal aorta are classified as terminal?
Common iliac
Terminal branches are the final branches of the abdominal aorta before it bifurcates.
What are the branches of the abdominal aorta? (9)
- Inferior phrenic
- Coeliac
- Superior mesenteric
- Middle suprarenal
- Renal
- Gonadal, Lumbar
- Inferior mesenteric
- Median sacral
- Common iliac
These branches supply various organs and structures in the abdominal region.
At what level does the abdominal aorta primarily branch?
T12 (Upper border), T12, L1, L1, L1-L2, L2, L1-L4, L3, L4, L4
The levels indicate the vertebral locations where the branches emerge.
Which abdominal aortic branches are paired?
Renal, Gonadal, Lumbar, Common iliac
Paired branches typically supply symmetrical structures on either side of the body.
Which abdominal aortic branches are unpaired? (4)
Coeliac, Superior mesenteric, Inferior mesenteric, Median sacral
Unpaired branches usually supply midline structures in the abdomen.
What type of branches are the Inferior phrenic and Lumbar?
Parietal
Parietal branches supply the body wall.
What type of branches are the Coeliac and Superior mesenteric?
Visceral
Visceral branches supply the organs within the abdominal cavity.
Fill in the blank: The _______ branch of the abdominal aorta is responsible for supplying the diaphragm.
Inferior phrenic
True or False: The Middle suprarenal branch is a paired branch of the abdominal aorta.
False
The Middle suprarenal branch is unpaired.
Which branches of the abdominal aorta are classified as terminal?
Common iliac
Terminal branches are the final branches of the abdominal aorta before it bifurcates.
What is the location of the appendix?
Base of caecum
How long can the appendix be?
Up to 10cm long
What type of tissue mainly composes the appendix?
Lymphoid tissue
This is significant because mesenteric adenitis may mimic appendicitis.
What anatomical feature helps in identifying the appendix during surgery?
Convergence of caecal taenia coli at base of appendix
What is the arterial supply to the appendix?
Appendicular artery (branch of the ileocolic)
Is the appendix intra or retroperitoneal?
Intra peritoneal
Where is McBurney’s point located?
1/3 of the way along a line drawn from the Anterior Superior Iliac Spine to the Umbilicus
What percentage of appendices are found in the retrocaecal position?
74%
What percentage of appendices are found in the pelvic position?
21%
List the six positions of the appendix. (6)
- Retrocaecal
- Pelvic
- Postileal
- Subcaecal
- Paracaecal
- Preileal
Where is the caecum located?
Proximal right colon below the ileocaecal valve
The caecum is intraperitoneal.
What are the posterior relations of the caecum?
- Psoas
- Iliacus
- Femoral nerve
- Genitofemoral nerve
- Gonadal vessels
These structures are located behind the caecum.
What are the anterior relations of the caecum?
Greater omentum
The greater omentum is a fold of peritoneum that hangs down from the stomach.
What is the arterial supply of the caecum?
Ileocolic artery
The ileocolic artery branches from the superior mesenteric artery.
What accompanies the venous drainage of the caecum?
Mesenteric nodes
Lymphatic drainage is important for immune function and fluid balance.
What is the most distensible part of the colon?
Caecum
This characteristic makes it vulnerable in cases of bowel obstruction.
In complete large bowel obstruction, where is the most likely site of eventual perforation?
Caecum
This occurs specifically with a competent ileocaecal valve.
What is the length of the ureter?
25-35 cm long
What type of epithelium lines the ureter?
Transitional epithelium
What surrounds the ureter?
Thick muscular coat
How many muscular layers does the ureter have as it crosses the bony pelvis?
3 muscular layers
Where is the ureter located in relation to the transverse processes?
Retroperitoneal structure overlying transverse processes L2-L5
What lies anterior to the bifurcation of the iliac vessels?
Ureter
What is the blood supply to the ureter?
Segmental; renal artery, aortic branches, gonadal branches, common iliac and internal iliac
Where does the ureter lie in relation to the uterine artery?
Beneath the uterine artery
What is the diaphragm?
A muscle that separates the thoracic cavity from the abdominal cavity and is the primary muscle involved in respiration.
What are diaphragm apertures?
Openings within the diaphragm that allow specific structures to pass from the thoracic cavity to the abdominal cavity.
List the three main diaphragm apertures and their vertebral levels.
- Aortic hiatus - T12
- Oesophageal hiatus - T10
- Vena cava foramen - T8
How can the vertebral levels of diaphragm apertures be remembered?
By counting the total number of letters in the spellings of ‘vena cava’ (8), ‘oesophagus’ (10), and ‘aortic hiatus’ (12).
What are lesser diaphragmatic apertures?
Smaller openings in the diaphragm that allow much smaller structures to pass through.
Name some examples of lesser diaphragmatic apertures.
- Left phrenic nerve
- Small veins
- Superior epigastric artery
- Intercostal nerves & vessels
- Subcostal nerves & vessels
- Splanchnic nerves
- Sympathetic trunk
What is Klinefelter’s syndrome associated with?
Karyotype 47, XXY
Klinefelter’s syndrome is a genetic condition resulting from the presence of an extra X chromosome.
List some features of Klinefelter’s syndrome.
- Often taller than average
- Lack of secondary sexual characteristics
- Small, firm testes
- Infertile
- Gynaecomastia
- Increased incidence of breast cancer
- Elevated gonadotrophin levels but low testosterone
These features contribute to the diagnosis and understanding of the syndrome’s impact on individuals.
How is Klinefelter’s syndrome diagnosed?
By karyotype (chromosomal analysis)
Karyotyping helps to confirm the presence of the extra chromosome associated with the syndrome.
True or False: Individuals with Klinefelter’s syndrome are typically fertile.
False
Infertility is a common feature of Klinefelter’s syndrome due to testicular dysfunction.
Fill in the blank: Klinefelter’s syndrome results in _______ levels of testosterone.
Low
The low testosterone levels are due to testicular dysgenesis associated with the syndrome.
Acute Cholangitis
Definition: Infection of the biliary tree due to obstruction (often gallstones).
Key Features: Fever, jaundice, RUQ pain (Charcot’s triad); can progress to hypotension and confusion (Reynolds’ pentad).
Diagnosis: Elevated ALP, GGT, bilirubin; imaging (US, MRCP).
Management: IV antibiotics, ERCP for decompression.
Alcoholic Hepatitis
Definition: Liver inflammation caused by excessive alcohol consumption.
Key Features: Jaundice, hepatomegaly, RUQ pain, fever.
Diagnosis: AST > ALT (usually 2:1), elevated bilirubin, INR.
Management: Abstinence, nutritional support, corticosteroids in severe cases
Anaemia
Definition: Low hemoglobin levels; multiple types (iron deficiency, B12/folate deficiency, etc.).
Key Features: Fatigue, pallor, breathlessness, tachycardia.
Diagnosis: FBC, iron studies, B12/folate levels, peripheral blood smear.
Management: Treat underlying cause (iron supplements, B12 injections).
Anal fissure
Definition: Tear in the anal mucosa, usually posterior midline.
Key Features: Pain during defecation, bright red rectal bleeding.
Diagnosis: Clinical examination.
Management: High-fiber diet, topical anesthetics, GTN cream; surgery if chronic.
Appendicitis
Definition: Inflammation of the appendix.
Key Features: Periumbilical pain migrating to RLQ, fever, nausea, vomiting.
Diagnosis: Clinical exam, elevated WBCs, imaging (US, CT).
Management: Appendectomy (laparoscopic preferred).
Ascites
efinition: Accumulation of fluid in the peritoneal cavity, often due to cirrhosis.
Key Features: Abdominal distension, shifting dullness.
Diagnosis: Abdominal US, paracentesis (for SAAG).
Management: Salt restriction, diuretics, paracentesis if large-volume.
Cholecystitis
Definition: Inflammation of the gallbladder, often secondary to gallstones.
Key Features: RUQ pain, Murphy’s sign, fever, nausea.
Diagnosis: US (thickened gallbladder wall, stones), WBCs.
Management: IV fluids, antibiotics, cholecystectomy.
Coeliac’s disease
Definition: Autoimmune reaction to gluten, causing villous atrophy in the small intestine.
Key Features: Diarrhea, weight loss, bloating, iron deficiency anemia.
Diagnosis: Anti-tTG antibodies, duodenal biopsy.
Management: Gluten-free diet.
Diverticular disease
Definition: Outpouchings of the colonic wall (diverticula), which can become inflamed (diverticulitis).
Key Features: LLQ pain, fever, constipation/diarrhea, rectal bleeding.
Diagnosis: CT abdomen with contrast; avoid colonoscopy during acute inflammation.
Management: High-fiber diet (diverticulosis), antibiotics, and bowel rest for diverticulitis. Surgery if complications (e.g., perforation).
Gall stones and Billary colic
Definition: Stones in the gallbladder (cholelithiasis) causing intermittent biliary obstruction.
Key Features: RUQ pain (post-fatty meal), radiating to the back or shoulder, no fever/jaundice.
Diagnosis: Abdominal ultrasound.
Management: Pain relief, elective cholecystectomy if symptomatic.
GI perforation
Definition: A hole in the wall of the GI tract, leading to peritonitis.
Key Features: Severe abdominal pain, guarding, rigidity, fever, hypotension.
Diagnosis: Upright chest X-ray (free air under diaphragm), CT abdomen.
Management: Emergency surgery, antibiotics, and fluid resuscitation.
GERD
Definition: Reflux of gastric contents into the esophagus due to lower esophageal sphincter dysfunction.
Key Features: Heartburn, regurgitation, dysphagia, chronic cough.
Diagnosis: Clinical, endoscopy if red flags.
Management: Lifestyle modifications, PPI (e.g., omeprazole), and antacids.
Haemochromatosis
Definition: Autosomal recessive condition causing iron overload and tissue damage.
Key Features: Fatigue, arthralgia, bronzed skin, hepatomegaly, diabetes.
Diagnosis: Elevated ferritin, transferrin saturation, genetic testing (HFE mutation).
Management: Regular venesection, iron chelation if needed.
Hepatits
Definition: Inflammation of the liver (causes: viral, autoimmune, alcohol, drugs).
Key Features: Jaundice, fatigue, RUQ pain, hepatomegaly.
Diagnosis: Liver function tests, viral serology, imaging.
Management: Depends on cause (e.g., antivirals for viral hepatitis, abstinence for alcoholic hepatitis).
What is the commonest approach to the abdomen?
Midline incision
Structures divided include linea alba, transversalis fascia, extraperitoneal fat, and peritoneum, while avoiding the falciform ligament above the umbilicus.
Which incision allows for access to the bladder via an extraperitoneal approach?
Midline incision
Access is achieved through the space of Retzius.
What is a paramedian incision?
An incision parallel to the midline (about 3-4cm)
Structures divided/retracted include anterior rectus sheath, rectus (retracted), posterior rectus sheath, transversalis fascia, extraperitoneal fat, and peritoneum.
What structures are divided or retracted in a paramedian incision?
- Anterior rectus sheath
- Rectus (retracted)
- Posterior rectus sheath
- Transversalis fascia
- Extraperitoneal fat
- Peritoneum
The incision is closed in layers.
What is the Battle incision?
Similar location to paramedian but rectus displaced medially
This incision is now seldom used.
Describe Kocher’s incision.
Incision under right subcostal margin
Commonly used for cholecystectomy (open).
What is the purpose of the Lanz incision?
Incision in right iliac fossa
Typically used for appendicectomy.
What is the Gridiron incision used for?
Oblique incision centered over McBurney’s point
Usually performed for appendicectomy and is less cosmetically acceptable than Lanz.
What type of incision is Pfannenstiel’s incision?
Transverse supra pubic incision
Primarily used to access pelvic organs.
What is McEvedy’s incision used for?
Groin incision
Used for emergency repair of strangulated femoral hernia.
What is the Rutherford Morrison incision known for?
Extraperitoneal approach to left or right lower quadrants
Provides excellent access to iliac vessels and is the approach of choice for first time renal transplantation.
What is a characteristic feature of duodenal ulcers?
Epigastric pain relieved by eating
Duodenal ulcers are more common than gastric ulcers.
What symptom is associated with gastric ulcers?
Epigastric pain worsened by eating
Features of upper gastrointestinal hemorrhage may be seen.
What is the typical initial pain location in appendicitis?
Central abdomen
Pain later localizes to the right iliac fossa.
What are common symptoms of appendicitis?
- Anorexia
- Tachycardia
- Low-grade pyrexia
- Tenderness in RIF
- Rovsing’s sign
Rovsing’s sign indicates more pain in the RIF than LIF when palpating the LIF.
What is the most common cause of acute pancreatitis?
Alcohol or gallstones
Severe epigastric pain and vomiting are common.
What are Cullen’s sign and Grey-Turner’s sign associated with?
Periumbilical and flank discoloration, respectively
These signs are described in acute pancreatitis but are rare.
What is a characteristic feature of biliary colic?
RUQ pain radiating to the back and interscapular region
Pain may follow a fatty meal and can persist for hours.
What may obstructive jaundice cause in terms of stool and urine color?
- Pale stools
- Dark urine
These changes are due to bile duct obstruction.
What are classic symptoms of acute cholecystitis?
- Continuous RUQ pain
- Fever
- Raised inflammatory markers
- Positive Murphy’s sign
Murphy’s sign involves arrest of inspiration on palpation of the RUQ.
What is the typical presentation of diverticulitis?
Colicky pain in the LLQ
Fever and raised inflammatory markers are also common.
What type of pain is associated with an abdominal aortic aneurysm?
Severe central abdominal pain radiating to the back
Presentation may be catastrophic or sub-acute.
What are common symptoms of intestinal obstruction?
- History of malignancy/previous operations
- Vomiting
- Not opened bowels recently
- ‘Tinkling’ bowel sounds
These symptoms indicate a possible blockage in the intestines.
What is the significance of pain in the RIF?
It is a sign associated with appendicitis
RIF stands for Right Iliac Fossa, where appendicitis pain is typically localized.
What are common symptoms of appendicitis?
Pain on extending the hip and raised inflammatory markers
Inflammatory markers indicate an immune response, which is common in appendicitis.
What demographic is more likely to experience appendicitis?
Thin, male patients
This demographic has a higher likelihood of presenting with appendicitis.
What is the typical percentage likelihood of appendicitis in certain cases?
55%
This statistic may refer to specific clinical scenarios involving appendicitis.
Appendicitis is often indicated by which combination of factors?
Raised inflammatory markers and compatible history
A compatible history includes symptoms and clinical findings consistent with appendicitis.
Fill in the blank: Pain in the RIF is now considered a sign of _______.
appendicitis
True or False: Pain on extending the hip is not associated with appendicitis.
False
This type of pain is indeed a sign of appendicitis.
What does RIF stand for in the context of appendicitis?
Right Iliac Fossa
It is the anatomical location where appendicitis pain is typically felt.
What is Whipple’s disease?
A rare multi-system disorder caused by Tropheryma whippelii infection
More common in those who are HLA-B27 positive and in middle-aged men.
List the common features of Whipple’s disease.
- Malabsorption: diarrhoea, weight loss
- Large-joint arthralgia
- Lymphadenopathy
- Skin: hyperpigmentation and photosensitivity
- Pleurisy, pericarditis
- Neurological symptoms (rare): ophthalmoplegia, dementia, seizures, ataxia, myoclonus
What does jejunal biopsy reveal in Whipple’s disease?
Deposition of macrophages containing Periodic acid-Schiff (PAS) granules
What is the first-line management for Whipple’s disease?
Oral co-trimoxazole for a year, sometimes preceded by a course of IV penicillin
True or False: Whipple’s disease is more common in women than men.
False
Fill in the blank: Whipple’s disease is associated with _______ positive individuals.
HLA-B27
What are the neurological symptoms associated with Whipple’s disease?
- Ophthalmoplegia
- Dementia
- Seizures
- Ataxia
- Myoclonus
What are some gastrointestinal symptoms of Whipple’s disease?
- Diarrhoea
- Weight loss
What are the skin manifestations of Whipple’s disease?
- Hyperpigmentation
- Photosensitivity
What is the significance of HLA-B27 in Whipple’s disease?
Its presence indicates a higher risk of developing the disease
What is Wilson’s disease primarily associated with?
Copper accumulation in the body
Wilson’s disease leads to excessive copper deposition, particularly affecting the liver and brain.
Which part of the brain is primarily affected by copper deposition in Wilson’s disease?
Basal ganglia, particularly the putamen and globus pallidus
These regions are crucial for motor control and may lead to neurological symptoms.
What are common neurological manifestations of Wilson’s disease?
- Asterixis
- Chorea
- Dementia
- Behavioral problems
These symptoms arise from copper accumulation affecting brain function.
What characteristic eye finding is associated with Wilson’s disease?
Green-brown rings in the periphery of the iris
This is due to copper accumulation in the Descemet membrane and is present in many patients.
In which percentage of patients with isolated hepatic Wilson’s disease are Kayser-Fleischer rings present?
Around 50%
Kayser-Fleischer rings are a key diagnostic feature of Wilson’s disease.
What is the prevalence of Kayser-Fleischer rings in patients with neurological involvement of Wilson’s disease?
Up to 90%
This high prevalence indicates significant copper accumulation affecting neurological function.
What renal condition is associated with Wilson’s disease?
Renal tubular acidosis
This condition can manifest as part of the systemic effects of copper overload.
What is a potential new treatment agent currently under investigation for Wilson’s disease?
Tetrathiomolybdate
This agent aims to enhance copper excretion and reduce its toxic effects.
What is a physical sign that may indicate Wilson’s disease?
Blue nails
This is a less common manifestation but can be associated with copper dysregulation.
What is Wilson’s disease primarily associated with?
Copper accumulation in the body
Wilson’s disease leads to excessive copper deposition, particularly affecting the liver and brain.
What are common neurological manifestations of Wilson’s disease?
- Asterixis
- Chorea
- Dementia
- Behavioral problems
These symptoms arise from copper accumulation affecting brain function.
What characteristic eye finding is associated with Wilson’s disease?
Green-brown rings in the periphery of the iris
This is due to copper accumulation in the Descemet membrane and is present in many patients.
In which percentage of patients with isolated hepatic Wilson’s disease are Kayser-Fleischer rings present?
Around 50%
Kayser-Fleischer rings are a key diagnostic feature of Wilson’s disease.
What is the prevalence of Kayser-Fleischer rings in patients with neurological involvement of Wilson’s disease?
Up to 90%
This high prevalence indicates significant copper accumulation affecting neurological function.
What renal condition is associated with Wilson’s disease?
Renal tubular acidosis
This condition can manifest as part of the systemic effects of copper overload.
What is a potential new treatment agent currently under investigation for Wilson’s disease?
Tetrathiomolybdate
This agent aims to enhance copper excretion and reduce its toxic effects.
What is Zollinger-Ellison syndrome?
A condition characterised by excessive levels of gastrin secondary to a gastrin-secreting tumour
The majority of these tumours are found in the first part of the duodenum, with the pancreas being the second most common location.
Where are the majority of gastrin-secreting tumours found in Zollinger-Ellison syndrome?
First part of the duodenum
The pancreas is the second most common location for these tumours.
What percentage of gastrinomas occur as part of MEN type I syndrome?
Around 30%
MEN stands for Multiple Endocrine Neoplasia.
List three features of Zollinger-Ellison syndrome.
- Multiple gastroduodenal ulcers
- Diarrhoea
- Malabsorption
What is the single best screening test for Zollinger-Ellison syndrome?
Fasting gastrin levels
This test is used to measure the amount of gastrin hormone in the blood.
What test is used to further evaluate Zollinger-Ellison syndrome after initial screening?
Secretin stimulation test
What is the scientific name for threadworms?
Enterobius vermicularis
In which population is threadworm infestation particularly common?
Children in the UK
How does threadworm infestation occur?
After swallowing eggs that are present in the environment
What percentage of threadworm infestations are asymptomatic?
90%
What are possible features of threadworm infestation?
- Perianal itching, particularly at night
- Vulval symptoms in girls
What diagnostic method can be used for threadworm infestation?
Applying Sellotape to the perianal area and sending it for microscopy
What is the recommended management approach for threadworm infestation?
- Combination of anthelmintic with hygiene measures for all household members
What is the first-line treatment for threadworm infestation in children over 6 months old?
Mebendazole
How is mebendazole administered for threadworm infestation?
A single dose is given unless infestation persists
True or False: Most patients with threadworm infestation are treated empirically.
True
What guidelines support the empirical treatment of threadworm infestation?
CKS guidelines
What are desmoid tumours?
Fibrous neoplasms arising from musculoaponeurotic structures containing clonal proliferations of myofibroblasts
Desmoid tumours are not classified as malignant but can be aggressive in behavior, infiltrating surrounding tissues.
What is the typical appearance of desmoid tumours?
Firm overgrowths of tissue with a propensity to local infiltration
These characteristics make desmoid tumours challenging to treat and manage.
In what percentage of patients with familial adenomatous polyposis coli do desmoid tumours occur?
Up to 15%
Familial adenomatous polyposis coli is a genetic condition that increases the risk for colorectal cancer.
What genetic mutations are typically seen in desmoid tumours?
Bi allelic APC mutations
APC gene mutations are commonly associated with familial adenomatous polyposis and are critical in tumorigenesis.
In which demographic do desmoid tumours most commonly occur?
Women after childbirth in the rectus abdominis muscle
This demographic factor may relate to hormonal changes and physical stress during and after pregnancy.
What is the primary treatment for desmoid tumours?
Radical surgical resection
Surgical intervention is preferred due to the high tendency for local recurrence.
What are the alternative treatments for desmoid tumours, if surgery is not an option?
Radiotherapy and chemotherapy may be considered
However, the results of non-surgical therapy are generally inferior to surgical resection.
What is the prognosis for abdominal desmoid tumours?
Some may spontaneously regress
In selected cases, a period of observation may be preferred, particularly if the tumours are not causing significant symptoms.
True or False: Desmoid tumours have a low tendency to local recurrence.
False
Desmoid tumours are known for their high tendency to recur locally after treatment.
Fill in the blank: Desmoids consist of sheets of differentiated _______.
fibroblasts
This cellular composition is significant in understanding their pathological behavior.
What type of bacteria is Helicobacter pylori?
Gram-negative bacteria
Associated with various gastrointestinal problems, particularly peptic ulcer disease.
What are the two main mechanisms Helicobacter pylori uses to survive in acidic gastric environments?
- Chemotaxis away from low pH areas using flagella
- Secretes urease to convert urea to NH, alkalinizing the environment
These mechanisms increase bacterial survival in the stomach.
What type of cytotoxins does Helicobacter pylori release?
Bacterial cytotoxins (e.g., CagA toxin)
These toxins disrupt the gastric mucosa.
What gastrointestinal conditions are associated with Helicobacter pylori?
- Peptic ulcer disease
- 95% of duodenal ulcers
- 75% of gastric ulcers
- Gastric cancer
- B cell lymphoma of MALT tissue
- Atrophic gastritis
Eradication of H pylori can lead to regression of B cell lymphoma in 80% of patients.
Is there a role for Helicobacter pylori eradication in Gastro-oesophageal reflux disease (GORD)?
No, there is currently no role for eradication in GORD
The relationship between H pylori and GORD is unclear.
What is the standard management for Helicobacter pylori infection?
A 7-day course of:
* Proton pump inhibitor + Amoxicillin + (Clarithromycin OR Metronidazole)
If penicillin-allergic: use Proton pump inhibitor + Metronidazole + Clarithromycin.
What type of bacteria is Helicobacter pylori?
Gram-negative bacteria
Associated with various gastrointestinal problems, particularly peptic ulcer disease.
What are the two main mechanisms Helicobacter pylori uses to survive in acidic gastric environments?
- Chemotaxis away from low pH areas using flagella
- Secretes urease to convert urea to NH, alkalinizing the environment
These mechanisms increase bacterial survival in the stomach.
What type of cytotoxins does Helicobacter pylori release?
Bacterial cytotoxins (e.g., CagA toxin)
These toxins disrupt the gastric mucosa.
What gastrointestinal conditions are associated with Helicobacter pylori?
- Peptic ulcer disease
- 95% of duodenal ulcers
- 75% of gastric ulcers
- Gastric cancer
- B cell lymphoma of MALT tissue
- Atrophic gastritis
Eradication of H pylori can lead to regression of B cell lymphoma in 80% of patients.
Is there a role for Helicobacter pylori eradication in Gastro-oesophageal reflux disease (GORD)?
No, there is currently no role for eradication in GORD
The relationship between H pylori and GORD is unclear.
What is the standard management for Helicobacter pylori infection?
A 7-day course of:
* Proton pump inhibitor + Amoxicillin + (Clarithromycin OR Metronidazole)
If penicillin-allergic: use Proton pump inhibitor + Metronidazole + Clarithromycin.
What is coeliac disease?
An autoimmune condition caused by sensitivity to the protein gluten
It affects around 1% of the UK population.
What happens with repeated exposure to gluten in coeliac disease?
Leads to villous atrophy, causing malabsorption
What skin condition is associated with coeliac disease?
Dermatitis herpetiformis (a vesicular, pruritic skin eruption)
What autoimmune disorders are associated with coeliac disease?
- Type 1 diabetes mellitus
- Autoimmune hepatitis
What HLA types are strongly associated with coeliac disease?
- HLA-DQ2 (95% of patients)
- HLA-DQ8 (80%)
According to NICE guidelines, which patients should be screened for coeliac disease?
Patients with specific signs and symptoms
Name two signs or symptoms of coeliac disease.
- Chronic or intermittent diarrhoea
- Failure to thrive or faltering growth in children
What is a common gastrointestinal symptom of coeliac disease?
Persistent or unexplained gastrointestinal symptoms, including nausea and vomiting
What are some complications of coeliac disease?
- Iron deficiency anemia
- Folate deficiency
- Vitamin B12 deficiency
- Osteoporosis
- Osteomalacia
- Enteropathy-associated T-cell lymphoma of the small intestine
- Unfavorable pregnancy outcomes
True or False: Folate deficiency is more common than vitamin B12 deficiency in coeliac disease.
True
What are rare complications associated with coeliac disease?
- Oesophageal cancer
- Other malignancies
Fill in the blank: Coeliac disease is associated with _______ thyroid disease.
Autoimmune
What is a common gastrointestinal condition that may be confused with coeliac disease?
Irritable bowel syndrome
Who are considered first-degree relatives in relation to coeliac disease?
- Parents
- Siblings
- Children
What is Coeliac disease caused by?
Sensitivity to the protein gluten