Lymphocytic colitis

A 38-year-old woman with previously stable Crohn’s disease presents complaining of worsening diarrhoea. She is managed on a small dose of budesonide and mesalazine, and has had no symptoms up until 6 months ago. Now she opens her bowels many times per day with voluminous non-bloody diarrhoea.

Investigations

Hb	12.9 g/dl
WCC	5.0 x109/l
PLT	203 x109/l
Na+	139 mmol/l
K+	3.9 mmol/l
Cr	100 μmol/l
Colonic biopsies	lymphocytic infiltrate

Which of the following is the most likely diagnosis?

	Coeliac disease
	Tropical sprue
	Lymphocytic colitis	Your answer
	Ulcerative colitis
	Crohn’s reactivation  Lymphocytic colitis may occur in patients with other forms of GI pathology, including Crohn’s and Coeliac. Loperamide is often used as a first line therapy, with cholestyramine an alternative if there is bile salt malabsorption. Other alternatives include immune modulating agents such as azathioprine, although a response to therapy may take many months to appear. Approximately 20% of patients have a spontaneous remission without specific intervention.

Retinitis pigmentosa

Each one of the following is associated with retinitis pigmentosa, except:ia

		A.A	Usher syndromeia
		B.A	Refsum diseaseia
		C.A	Kearns-Sayre syndromeia
		D.A	Tuberose sclerosisia
		E.A	Abetalipoproteinaemiaia

Ocular manifestations of tuberose sclerosis includes retinal hamartomas

Retinitis pigmentosa

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Retinitis pigmentosa primarily affects the peripheral retina resulting in tunnel vision

Features

• night blindness is often the initial sign
• funnel vision (the preferred term for tunnel vision)

Associated diseases

• Refsum disease: cerebellar ataxia, peripheral neuropathy, deafness, ichthyosis
• Usher syndrome
• abetalipoproteinemia
• Lawrence-Moon-Biedl syndrome
• Kearns-Sayre syndrome
• Alport's syndrome

Zieve's syndrome

A 50-year-old man presents with shortness of breath. He is a known alcoholic and has a past history of ischaemic heart disease. On examination he looks jaundiced but his abdomen is soft and non-tender and his chest sounds clear with good breath sounds bilaterally.
His serum blood tests show the following results:

Hb	7 g/dl
Bilirubin	35 μmol/l
GGT	400 iu/l
Cholesterol	10 mmol/l

Which of the following diagnosis do you think he has?

	Zieve’s syndrome	Your answer
	Whipple’s disease
	Crigler–Najjar syndrome
	Gilbert’s syndrome
	Non-alcoholic steatohepatitis syndrome (NASH)

Zieve’s syndrome occurs in patients with excessive alcohol consumption with haemolysis and severe hyperlipidaemia, abdominal pain, transient mildly raised bilirubin. It usually occurs in males and resolves once alcohol consumption is stopped. Whipple’s disease is a cause of gastrointestinal (GI) malabsorption usually in middle-aged men, and is caused by the Gram-positive bacteria Tropheryma whippelii. Crigler–Najjar syndrome is a rare congenital disorder of bilirubin conjugation. It has two distinct forms, type 1 and type 2: type 2 patients can survive to adulthood without any neurological impairment, whereas this impairment is seen in neonates in type 1 cases. Gilbert’s syndrome is a benign cause of isolated hyperbilirubinaemia and can be affected by illness, surgery or dehydration. It is inherited in an autosomal recessive pattern. Non-alcoholic steatohepatitis (NASH) is the syndrome of fatty liver not caused by alcohol related to raised cholesterol, obesity and type 2 diabetes.

Depression............

A 62-year-old man comes to the Emergency room with his daughter who is very concerned that he may be depressed. He wakes very early in the morning and seems not to have been eating for the past few weeks. Apparently he has undergone some minor investigations for indigestion which have proved unremarkable. On examination you become quite concerned because he tells you the reason he is depressed is because he is dying of stomach cancer and he has considered a number of ways to kill himself.

Investigations;

Hb	12.1 g/dl
WCC	4.9 x109/l
PLT	175 x109/l
Na+	141 mmol/l
K+	4.2 mmol/l
Creatinine	100 μmol/l

Which of the following would be the most appropriate therapy choice for him?

	Cognitive therapy
	Amitriptyline
	ECT
	Citalopram	Your answer
	Venlafaxine

NICE guidelines on the treatment of moderate to severe depression suggest using a generic SSRI as first line therapy in moderate to severe depression. Potential toxicity of agents which may be used in any suicide attempt should also be considered, for this reason tricyclics such as amitriptyline should be avoided, as should venlafaxine. It is also important to warn both the patient and his daughter that symptoms may not improve for around 2 weeks, although many patients with depression report subjective improvements in their symptoms before the 2 week stage. ECT is reserved for the severest of patients but is highly effective. Input from the psychology service has a role along side drug therapy in this case.

Blepharospasm

A question about blepharospasm did actually come out this year.....
A blepharospasm (from Greek: blepharo, eyelid, and spasm, an uncontrolled muscle contraction), is any abnormal contraction or twitch of the eyelid.

It normally refers to benign essential blepharospasm, a focal dystonia—a neurological movement disorder involving involuntary and sustained muscle contractions of the muscles around the eyes. Benign means the condition is not life threatening. Essential indicates that the cause is unknown, but fatigue, stress, or an irritant are possible contributing factors. Symptoms sometimes last for a few days then disappear without treatment, but in most cases the twitching is chronic and persistent, causing lifelong challenges. The symptoms are often severe enough to result in functional blindness. The person's eyelids feel like they are clamping shut and will not open without great effort. Patients have normal eyes, but for periods of time are effectively blind due to their inability to open their eyelids.

Some drugs can induce blepharospasm, such as those used to treat Parkinson's disease, as well as sensitivity to hormone treatments, including estrogen-replacement therapy for women going through menopause. Blepharospasm can also be a symptom of acute withdrawal from benzodiazepine dependence. In addition to blepharospasm being a benzodiazepine withdrawal symptom, prolonged use of benzodiazepines can induce blepharospasm and is a known risk factor for the development of blepharospasm.^[2]

Blepharospasm may also come from abnormal functioning of the brain basal ganglia. Simultaneous dry eye and dystonias such as Meige's syndrome have been observed. Blepharospasms can be caused by concussions in some rare cases, when a blow to the back of the head damages the basal ganglia.

JAK 2 Mutation

Today, I am going to write about JAK 2 Mutation. This question did come out in one of MRCP Part 1 January 2010 Paper.

JAK2 is a tyrosine kinase which plays an important role in normal hematopoietic growth factor signaling, and the mutation results in activation of the kinase and deregulated intracellular signaling with cell proliferation that is independent of normal growth factor control.

Using sensitive assays, the JAK2 mutation can be detected in approximately 90-95% of cases of polycythemia vera, 50-70% of patients with essential thrombocythemia, and 40-50% of cases of idiopathic myelofibrosis. The mutation has also been described in rare cases of myelodysplastic syndromes, acute myeloid leukemia, systemic mastocytosis and hypereosinophilic syndrome. It is specific for diagnosis of a clonal myeloid lineage proliferative disorder. The mutation has not been described in BCR/ABL-positive chronic myeloid leukemia, any acute or chronic lymphoid disorders, any healthy persons, or any patient with secondary polycythemia or a reactive blood count elevation. The JAK2 test promises to be very useful in distinguishing between clonal myeloproliferative disorders and reactive cellular proliferations. Indications for the assay include the following: Evaluation of polycythemia - the test should be ordered in addition to serum erythropoietin level. Evaluation of an elevated platelet count, clinically not consistent with reactive thrombocytosis. Unusual thrombotic events including abdominal or cerebral thrombosis or arterial events at a young age, which may be a presenting sign of an underlying chronic myeloproliferative disorder.

Something wrong with this T wave.... what is it?

 
Severe hyperkalaemia is a medical emergency due to the risk of arrythmia. However, most of the cases have been badly managed by the house officer.

The following changes may be seen in hyperkalaemia

• small or absent P waves
• atrial fibrillation 
• prolonged PR interval
• wide QRS
• shortened or absent ST segment
• wide, tall and tented T waves
• ventricular fibrillation

Click here for the example of the ECG changes.

 Management of Hyperkalaemia

Treatment of hyperkalaemia involves stabilizing the myocardium to prevent arrhythmias, shifting potassium back into the intracellular space and removing excess potassium from the body.
1. Correct Serious Conduction Abnormalities (Calcium)

• Calcium is a very useful agent. It does not lower the serum potassium level, but instead is used to stabilise the myocardium, as a temporising measure. Calcium is indicated if there is widening of QRS, sine wave pattern (when S and T waves merge together), or in hyperkalaemic cardiac arrest.
• The ‘cardiac membrane stabilising effects’ take about 15-30mins.
• Calcium Chloride
  • Dose: Calcium Chloride 10% 5-10mL
  • 3 x more potent than Calcium Gluconate
  • Complication: severe thrombophlebitis
• Calcium Gluconate:
  • Dose: Calcium Gluconate 10% 5-10mL
  • Less potent, less irritating to veins
• Potential Complications of Calcium administration
  • Bradycardia, hypotension and peripheral vasodilation
  • Generally these occur if administered too quickly
  • Avoid in digoxin toxicity (use magnesium as alternative)

2. Drive Potassium into the Cell:

• Insulin & Glucose
  • Dose: IV fast acting insulin (actrapid) 10-20 units and glucose/dextrose 50g 25-50ml
  • Insulin drives potassium into cells and administering glucose prevents hypoglycaemia.
  • Begins to work in 20-30mins reduces potassium by 1mmol/L and ECG changes within the first hour
• Sodium Bicarbonate
  • Dose: 50- 200mmol of 8.4% Sodium Bicarbonate
  • Bicarbonate is only effective at driving Potassium intracellullarly if the patient is acidotic
  • Begins working in 30-60 minutes and continues to work for several hours.
• Salbutamol
  • Dose: 10-20mg via nebulizer
  • Beta 2 agonist therapy lower K via either IV or nebulizer route.
  • Salbutamol can lower potassium level 1mmol/L in about 30 minutes, and maintain it for up to 2 hours.
  • Very effective in renal patients that are fluid overloaded

3. Eliminate Potassium From the Body:

• Calcium Resonium
  • Dose: 15-45g orally or rectally, mixed with sorbitol or lactulose
  • Calcium polystyrene sulfonate is a large insoluble molecule that binds potassium in the large intestine, where it is excreted in faeces
  • Effects take 2-3 hours
• Frusemide
  • Dose: 20-80mg depending on hydration status
  • Potassium wasting diuretic. Helps to urinary excrete potassium in conjunction with hydration or fluid overloaded patients
• Normal Saline
  • Used to help renally excrete potassium, by increasing renal perfusion and urinary output. Cautious use in patients with renal & heart failure
• Dialysis
  • Is the gold standard for removing potassium from the body. Provides immediate and reliable removal.
  • Can lower potassium by 1mmol/L in first hour and another 1mmol/L over the next 2 hours.