When might a family have lynch syndrome?
What is the pathogenesis of lynch syndrome?
Mismatch repair gene is mutated
Usually respnsible for repairing damage to our cells - protecting us from cancer
Lynch means mismatch repair gene is altered - so cannot do it’s job properly - risk of developing certain cancers
What is the inheritance pattern?
Autosomal dominant
(50% chance of inheritance)
What is the risk of cancer associated with lynch syndrome?
Lifetime risk of bowel cancer is 50-80% (reduced after screening)
Lifetime risk of endometrial cancer is 30-60%
Ovarian cancer is 10%
Other cancer risks as well such as renal cancer, stomach cancer and urinary tract cancer.
What is the cancer screening associated with lynch
Bowels checked every two years from age of 25
Endometrial and ovarian screening begins at age of 30-35
Endometrial cancer - ultrasound scan - also involves taking samples
Ovarian cancer - blood test CA125
(some women chose to have a hysterectomy to reduce risk of cancer)
Advice for colonoscopy
Strong laxitive
Camera the same width as finger
Mild sedation
Can go home after on the same day
What are the benefits of bowel screening?
Detect cancers when they are more treatable
Polyps can be removed - some polyps can develop into cancers
What is the relevant safety net advice for lynch syndrome?
Unexplained tiredness
Unusual bowel symptoms (blood in stool, passing mucus, change in bowel habit)
Weight loss
Unusual bleeding or discharge from the womb
If anyone in the family develops any cancers or polyps please let us know so we can update our advice
There is no cure
When is amniocentesis offered?
How is amniocentesis performed?
Carried out between weeks 15-20 (later if necessary)
(It can be performed earlier, but this may increase the risk of complications of amniocentesis and is usually avoided.)
When do you get results for amniocentesis?
The first results of the test should be available within 3 working days and will tell you whether Down’s syndrome, Edwards’ syndrome or Patau’s syndrome has been discovered.
If rarer conditions are also being tested for, it can take 3 weeks or more for the results to come back.
How do you inform someone about the potential results of amniocentesis?
Antenatal Results and Choices (ARC), a charity that offers information, advice and support on all issues related to screening during pregnancy.
What are the risks of amniocentesis?
Miscarriage 1/100 chance
Infection
Needing to have the procedure again
What is an alternative to amniocentesis?
What are the symptoms of carpal tunnel?
pain/pins and needles in thumb, index, middle finger unusually the symptoms may ‘ascend’ proximally patient shakes his hand to obtain relief, classically at night
What are the clinical signs of carpal tunnel?
Hand of benediction is seen when the patient is asked to make a fist and the ring and little finger flex but the index and middle finger can not flex at the metacarpal-phalangeal joint or interphalangeal joint.
What is the sensory distribution of the median nerve?

What are the potential causes of carpal tunnel?
idiopathic pregnancy oedema e.g. heart failure lunate fracture rheumatoid arthritis
What is the relevant investiagtion for carpal tunnel?
EMG (electromyography)
What is the treatment for carpal tunnel?
Wrist splint
Steroid injection
Surgical release
When is claw hand visible?
At rest
What causes DKA?
DKA is caused by uncontrolled lipolysis (not proteolysis) which results in an excess of free fatty acids that are ultimately converted to ketone bodies
What are the most common precipitating factors for DKA?
Infection
Missued insulin
MI
What are the features of DKA?
abdominal pain
polyuria, polydipsia, dehydration
Kussmaul respiration (deep hyperventilation)
Acetone-smelling breath (‘pear drops’ smell)