Station 5 Case 8

Station 5 Case 8:

Follow Up Questions/Answers

Please can you present your clinical findings in this case?

This 69-year-old female has sarcoidosis; evidenced by the typical history

of shortness of breath and exertion with a cough, weight loss and fatigue.
On examination she had widespread cutaneous manifestations of
sarcoidosis, in the lupus pernio and the widespread macular rash with
infiltration in her fingers.

How would you investigate for sarcoidosis further?

In this lady I would want to do a urine dipstick looking for any protein, I’d
want to do some blood tests – a full blood count, a kidney function test
and a bone profile looking for hypercalcaemia. I’d also want to do liver
function tests looking for any subtle derangement; I’d also want to do a
angiotensin converting enzyme. I’d also refer the patient for spirometry,
Chest X-ray, echocardiogram and I would consider a high-resolution CT.
I’d also want to consider a tissue biopsy in future, and rule out TB as well.

You mentioned chest x-ray – what would you expect to see on a chest x-
ray?

There are several different stages of chest radiograph changes. Stage 0

is a normal chest X-ray; stage 1 is bilateral hilar lymphadenopathy; stage
2 is bilateral hilar lymphadenopathy with pulmonary infiltrates; stage 3 is
diffuse pulmonary infiltrates, and stage 4 is pulmonary fibrosis.

So what about the pulmonary function tests; what would you expect
them to show?

I would expect a restrictive pattern with a reduced transfer factor.

What do you mean by a restrictive pattern?

A reduced FEV1 and reduced FVC with a maintained ratio.

And how would you treat someone you suspect to have sarcoidosis?

In most cases treatment is supportive only, however as with severe

symptoms or chest radiograph changes of Stage 2 or above, systemic
steroids are indicated.

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Station 5 Case 8

I’m sure you’re aware that steroids don’t always work in sarcoidosis. Is
there anything else that you could try?

There are steroid sparing agents such as methotrexate that could be

used, and the next line would be anti-TNF therapies.

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Station 5 Case 8

Station 5 Case 8:

Key Words and Phrases

Sarcoidosis is a granulomatous disorder which effects multiple systems.

The cause is not known; it may be due to an immune reaction to a trigger
such as an infection or a chemical in those that are genetically
predisposed. There is a reported 20% incidence in 1st degree relatives in
those effected from African American descent.

Its peak incidence is in the 3rd or 4th decades with a female

preponderance. Commonest presentation is with breathlessness. A chest
x ray typical reveals bilateral hilar lymphadenopathy although a CXR
maybe normal in up to 20% of non respiratory cases.

Skin manifestations are seen in 20-35% of cases of sarcoidosis. Lupus

pernio is an extra pulmonary skin manifestation of sarcoidosis. This is a
purple-red infiltration of the nose and/or of the cheeks.

In suspected sarcoidosis if there is hilar lymphadenopathy, transbronchial

biopsy is the most useful investigation with positive results in up to 90%
of cases with pulmonary sarcoidosis with or without x ray evidence of
lung involvement.

Serum level of ACE 2 standard deviations above the normal mean value
is seen in over 75% of patients with untreated sarcoid. However, raised
levels are also seen in patients with lymphoma, pulmonary TB, asbestosis
and silicosis rendering the test of no diagnostic value but it can be used
in assessing the activity of the disease and response to treatment.

Lung function tests typically reveal a restrictive lung defect when

pulmonary infiltration is present. There is decreased FEV1 and FVC but
the ratio is maintained, the TLC and gas transfer are also decreased. With
infiltration into the lungs a CXR may show mottling or fine nodular
shadowing in the mid zones.

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Station 5 Case 8

Treatment for sarcoidosis varies greatly depending on the patient, hilar

lymphadenopathy on its own with no evidence of CXR involvement of
the lungs or decreased in lung function tests does not require immediate
treatment. Lung infiltrates on the CXR or abnormal lung function tests
are unlikely to improve with steroid treatment. Steroid treatment can also
be considered in those not spontaneously improving 6 months after
diagnosis.

In some patient’s response to steroids can be slow or the condition does

not respond at all. In such patient’s antimetabolites such as azathioprine,
methotrexate and leflunomide are often used. As the granulomatous
condition is caused by collections of immune system cells, particularly T
cells, there has been some success using immunosuppressant’s such as
cyclophosphamide and cyclosporin, and anti tumour necrosis factor
treatment such as infliximab.

The CXR provides a guide to prognosis. The disease remits by 2 years in

over 2/3 of patients with hilar lymphadenopathy alone, in approximately
half of those with hilar lymphadenopathy and CXR evidence of
pulmonary infiltration but in only 1/3 patients with x ray evidence of
infiltration without any demonstrable lymphadenopathy. Unfortunately,
lupus pernio is associated with poor outcomes and lower rate of
resolution.

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