MudPhud20XX

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A 48-year-old woman has noted that during the past month her fingers become cold and painful on exposure to cold. She has mild dyspnea, but no wheezing. She is found to have a blood pressure of 170/110 mmHg. Her antinuclear-antibody test is positive with a titer of 1:256 and a nucleolar pattern. Her serum urea nitrogen is 15 mg/dL with creatinine of 1.1 mg/dL. Which of the following autoimmune diseases is she most likely to have?

A. discoid lupus erythematosus
B. polymyositis-dermatomyositis
C. progressive systemic sclerosis
D. sjogren syndrome
E. rheumatoid arthritis

So I did end up choosing the right answer based on the fact that the pt. had CREST, but that was the only clue I could find from the question stem. What else could have led specifically to scleroderma? The solution says the "nucleolar pattern" suggests scleroderma (systemc sclerosis), but I am not sure if I understand this. Can anyone explain this pattern and the association with scleroderma? Many thanks in advance.
 

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Where is this question from?
Please give a spoiler alert if any of the question are from NBME, UW, Kaplan or USMLERx.
Thanks
 

MudPhud20XX

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Where is this question from?
Please give a spoiler alert if any of the question are from NBME, UW, Kaplan or USMLERx.
Thanks
Yeah sure. I always do if a question comes from those q banks. This is from one of the Goljan rapid review q bank associated with Robbin's pathology from USMLE Consult.
 
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SBR249

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CREST is basically a limited form of scleroderma, in fact the other name of CREST syndrome is limited cutaneous form of systemic scleroderma.
 
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So I did end up choosing the right answer based on the fact that the pt. had CREST, but that was the only clue I could find from the question stem. What else could have led specifically to scleroderma? The solution says the "nucleolar pattern" suggests scleroderma (systemc sclerosis), but I am not sure if I understand this. Can anyone explain this pattern and the association with scleroderma? Many thanks in advance.

There are four types of staining patterns based on the area of nucleus which "light up" on indirect immunofluorescence :

Speckled pattern>>>>>>> antibodies to non-DNA nuclear components
Nucleolar pattern>>>>>>> antibodies to RNA
Homogeneous or diffuse nuclear staining>>>>>>antibodies to histones/chromatin
Membranous, or peripheral staining pattern>>>>>antibodies to ds-DNA

The so called "nucleolar pattern" only helps to differentiate between SLE and systemic sclerosis but cannot diagnose the disease in isolation.

However, in general, ANA tests are not specific enough to diagnose any disease except for centromere (with limited scIeroderma aka CREST and primary biliary cirrhosis) but see below:
Anti-ds-DNA and anti-Sm are very specific for SLE.
Anti-Ul-RNP is very sensitive for mixed connective tissue disease (MCTD) but not very specific.
Anti-histone is very sensitive, but not very specific, for drug-induced SLE (procainamide, hydralazine, chlorpromazine, and quinidine).
 
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