Mrs Marina Coyle, 50 years old, has attended your GP practice in mid-winter complaining of painful hands. It has been gradually getting worse for a 2-3 months now, since the autumn chill started to set in. She has to wear gloves going outside even in mild weather because her fingers become very cold and painful. On reflection, she finds she dislikes the cold generally, and you notice she is wearing two cardigans.
In herself she feels well, if a bit more tired than usual. Her periods have been becoming erratic and heavy over the past few months and her husband has been complaining about her being irritable – although she says this is not a new thing. Slightly embarrassed, she admits she thinks she is heading into the menopause. She is not taking any medication.
She smokes approximately 20 cigarettes a day.
You offer Mrs Coyle a cup of tea to sip while you find a replacement bulb for your examination lamp. Unfortunately, she grimaces after a few sips, and say that the slightest thing sets off her heartburn. When you ask casually how long this has been a problem, she says only for the past few weeks. When you screen for other GI symptoms, she says she’s mostly okay but has been getting a bit more constipation, although she has some Fybogel in reserve for when this is a problem. She does feel less hungry when this happens, and is fairly sure she has lost weight.
Her hands are not obviously inflamed or painful. The skin is perhaps a bit shiny, and there is mild nail pitting with somewhat swollen fingers. A quick GALS screen reveals a painful lower back, apparently due to her office job and this is long standing. Gait, arms and legs are otherwise normal.
Cardiovascular and respiratory exam normal. GI exam is normal, although she is has some epigastric discomfort.
The fundoscope is broken so you are not able to do fundoscopy.
Mrs Coyle returns for the results of her blood tests.
FBC: Borderline haemoglobin, otherwise normal.
ESR – slightly raised, CRP normal.
Renal function & hepatic function normal.
Antinuclear antibodies are positive, the rest of the blood tests are still to come in.
Over to you - what would you like?
TFTs are absolutely normal.
Anti-centromere and anti-nuclear antibodies are positive.
Chest X Ray report: Lungs are clear. No evidence gross pulmonary abnormality.
Now select your winner!
You picked:
Correct answer:Systemic Sclerosis
This is a classic presentation of limited Systemic Sclerosis (LSS) Anti-centromere antibodies are specific but not sensitive; anti-nuclear antibodies are sensitive (positive in 90-95%) but not specific to LSS. LSS is also known as CREST syndrome: Calcinosis, Reynaud’s, oEsophageal dysmotility, Sclerodactyly, Telangiectasia. It was previously called Scleroderma. Essentially this is a systemic, auto-immune connective tissue disorder. The limited subtype is characterised by the CREST constellation of symptoms, which generally follows a more benign course. The diffuse subtype tends to have a more rapid onset, with multiple symptoms including severe skin changes occurring quickly.
Further reading:
Relevant chapters in core medical textbooks
http://patient.info/doctor/systemic-sclerosis-scleroderma
http://cks.nice.org.uk/raynauds-phenomenon
