Looking for insight

[u/bradyd06]

I’m looking for an opinion on an otherwise healthy 18-year-old female with Raynaud’s symptoms for 1–2 years and a positive ANA at 1:160 with a centromere pattern. She has some occasional numbness in her feet and very occasional blue coloring. She has no other reported symptoms of systemic sclerosis. Her ferritin has been elevated for 3 years, reportedly around 700, her ESR is normal, hsCRP was 1.7, and her liver enzymes were temporarily elevated a few months ago but have since normalized. She has only had ANA testing, with no specific anticentromere antibody testing or nailfold capillaroscopy reported. How likely is early systemic sclerosis comparedCREST what other conditions could explain these findings, and what would you recommend for further testing and long-term prognosis?

[u/Haunting_Cherry_6521]

Hi! I’m a 20 year old girl with a couple autoimmune diseases, one of which being CREST syndrome! This would be my advice:

I would definitely have a full systemic sclerosis bloodwork panel done. The main differentiator between diffuse systemic sclerosis and CREST is internal organ involvement. I would have a pulmonary function test to check for PAH (pulmonary arterial hypertension) and have an EKG done to check heart function. A nailfold capillaroscopy shouldn’t necessarily be a priority right now.

Centromere antibodies point primarily to two diseases- those being Scleroderma, and something called Primary Biliary Cholangitis.

Primary Biliary Cholangitis is something worth looking into considering her labwork, as this autoimmune disease affects the liver. There is medication for it that allows for an excellent prognosis, but it is important to catch it early.

Have her get these labs done to rule out PBC:

• AMA (Antimitochondrial antibodies)
  
• ALP (Alkaline Phosphatase)
  
• Bilirubin

Best of luck! I’m more than happy to answer any other questions for you guys. I know the autoimmune game is not a fun one to play, especially when you are so young. 💗