A 20-year-old man who has a family history of alpha-1 antitrypsin deficiency has genetic testing. The following results are received:
What is the most likely outcome?
Correct Answer E: Heterozygote patients such as those with the PiMZ genotype have alpha-1 antitrypsin levels approximately 35% of normal. They therefore have a low risk of developing clinically evident lung disease.
Alpha-1 antitrypsin deficiency:
Alpha-1 antitrypsin (A1AT) deficiency is a common inherited condition caused by a lack of a protease inhibitor (Pi) normally produced by the liver. The role of A1AT is to protect cells from enzymes such as neutrophil elastase.
Genetics:
Features:
Management:
*Trusted sources are split on which is a more accurate description.
A 19-year-old man presents as he is concerned he may be asthmatic.
Which one of the following points in the history would make this diagnosis less likely?
Correct Answer B: The British Thoracic Society suggest peripheral tingling is one of the factors which makes a diagnosis of asthma less likely. His smoking history does not preclude a diagnosis of asthma.
Asthma: diagnosis in adults:
The 2008 British Thoracic Society guidelines marked a subtle change in the approach to diagnosing asthma. This approach is supported in the updated 2011 guidelines. It suggests dividing patients into a high, intermediate and low probability of having asthma based on the presence or absence of typical symptoms. A list can be found in the external link but include typical symptoms such as wheeze, nocturnal cough etc.
Example of features used to assess asthma:
Management is based on this assessment:
For patients with an intermediate probability of asthma further investigations are suggested. The guidelines state that spirometry is the preferred initial test:
Recent studies have shown the limited value of other 'objective' tests. It is now recognized that in patients with normal or near-normal pre-treatment lung function there is little room for measurable improvement in FEV1 or peak flow.
A > 400 ml improvement in FEV1 is considered significant.
It is now advised to interpret peak flow variability with caution due to the poor sensitivity of the test:
Which one of the following is least associated with Kartagener's syndrome?
Correct Answer C:
Kartagener's syndrome:
Kartagener's syndrome (also known as primary ciliary dyskinesia) was first described in 1933 and most frequently occurs in examinations due to its association with dextrocardia (e.g. 'quiet heart sounds', 'small volume complexes in lateral leads').
A 44-year-old man who is known to be HIV positive presents with shortness-of-breath.
Which one of the following features is most characteristic of Pneumocystis carinii pneumonia?
Correct Answer E:
HIV: Pneumocystis jiroveci pneumonia: Whilst the organism Pneumocystis carinii is now referred to as Pneumocystis jiroveci, the term Pneumocystis carinii pneumonia (PCP) is still in common use.
Extrapulmonary manifestations are rare (1-2% of cases), may cause:
Investigation:
A 52-year-old woman with a history of breast cancer is admitted with acute dyspnoea. Her respiratory rate on admission is 42 / min and her oxygen saturations are 87% on room air. A pulmonary embolism is suspected and she is transferred to the high dependency unit after being treated with oxygen and enoxaparin.
Which one of the following would be strongest indication for thrombolysis?
Correct Answer B: Massive PE + hypotension-> thrombolse
Pulmonary embolism: management:
The NICE guidelines of 2012 provided some clarity on how long patients should be anticoagulated for after a pulmonary embolism (PE). Selected points are listed below. Low molecular weight heparin (LMWH) or fondaparinux should be given initially after a PE is diagnosed. An exception to this is for patients with a massive PE where thrombolysis is being considered. In such a situation unfractionated heparin should be used.
Thrombolysis:
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