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07 April 2015

Answer: What's your diagnosis? – Case 5

Last week, we met Mrs B (25) who presented with shortness of breath to her GP. Eventually her condition deteriorated to the point where she collapsed in doctor's office. She suffers from a rare condition called lympangioleiomyomatosis (LAM).

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In our latest case we met Ms B, a 25 year old administrative clerk who was initially diagnosed with asthma when she presented to her doctor with progressive shortness of breath. Her condition deteriorated to the point where she suffered a pneumothorax.

Read the full case study here.

Ms B suffers from a rare lung condition called lympangioleiomyomatosis (LAM). This condition, affecting mostly women of childbearing age, occurs when muscle cells lining the blood vessels and airways of the lung multiply abnormally. Eventually, the muscle cells also spread to areas of the lung where they are not usually found. The muscles cells may also spread to other organs, forming non-cancerous tumours.

The emphysema-type clinical picture that sufferers present with is caused by abnormal enlargement or swelling of the air sacs, leading to the formation of cysts which may eventually burst.

What causes LAM?

There are no exact and clear explanations for why people develop LAM. Some theories suggest oestrogen involvement. This is based on the fact that LAM is rarely diagnosed before puberty and after menopause. This may also explain why the illness has only been noticed in 10 men. In fact, the condition itself is so rare, that it is estimated that fewer than 2000 women suffer from the condition.

How do people suffering from LAM present?

The typical presentation is shortness of breath in varying degrees. Easily mistaken for other more common conditions like asthma, LAM may also present with wheezing and coughing.

In Ms B’s case, she also suffered a pneumothorax. This is due to the rupture of the cysts that form as part of the disease process. The white substance that drained from her chest cavity is most likely chyle (milky lymph fluid). 

The blood in her urine can be explained by tumours in the urinary tract, which may also cause pain and even kidney failure.

LAM is a very rare condition and all other possible causes for symptoms should be excluded. It is therefore a diagnosis of exclusion and should only be made after extensive special investigations.

NOTE: Health24's on-site GP Dr Owen Wiese will reveal new cases on Thursdays and we'll post the answer with the story on Mondays, or you can find out via the Daily Tip – sign up here.

Previously on What's Your Diagnosis

What's your diagnosis? – Case 1: vomiting and weight loss

What's your diagnosis? – Case 2: eye pain

What's your diagnosis -  Case 3: strange behaviour and a bullet in the back?

What's your diagnosis - Case 4: seeing odd things

Image: Female doctor examining X-ray from Shutterstock.

 
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