DESTIN, FLA. – Patients who present with what appears to be "puffy hand sign" should be carefully evaluated for systemic sclerosis, and if they also report Raynaud’s phenomenon and display acral or distal sclerosis and nailfold involvement, they should be treated aggressively, according to Dr. Ruth Ann Vleugels.

"We can really treat this disease if we catch it early and if we treat it aggressively," said Dr. Vleugels, director of the Autoimmune Skin Disease Program at Brigham & Women’s Hospital, Boston, and codirector of the Rheumatology-Dermatology Clinic at Boston Children’s Hospital.

The puffy hand sign will be apparent throughout the fingers and dorsal hand – not just in the joints – and patients may have limitation of movement when forming the prayer sign, she noted.

It is important to look for the other signs of disease as well, because puffy hands in the absence of Raynaud’s and nailfold involvement may represent eosinophilic fasciitis, which is sometimes misdiagnosed as systemic sclerosis, she explained at the annual Congress of Clinical Rheumatology.

When the signs and symptoms of systemic sclerosis are present, however, it is important to do a workup and begin treatment.

Typically, Dr. Vleugels said she starts with mycophenolate mofetil.

"This is one of those things that I have to encourage the rheumatologists I work with to consider," she said. "Often they don’t start treatment for cutaneous sclerosis because there’s no treatment that’s been proven to work. But I would argue that if we catch these patients early, we can really, really make a difference in their cutaneous sclerosis," she emphasized.

Based on the experience of researchers at Johns Hopkins University, Baltimore, Dr. Vleugels said she tries to get patients up to 3 g of mycophenolate mofetil if they can tolerate it, and then she tapers the dose to 2 g, and eventually discontinues treatment slowly over time if possible.

Counseling patients is particularly important for encouraging early treatment, because while some damage can’t be reversed, the process can be halted, Dr. Vleugels noted. She described one patient with total sclerosis of the fingers, which was worsening and starting to involve the dorsal hand and forearm, and was causing problems with wrist mobility.

"There is no miracle drug to bring this back – I can’t un-sclerose her fingers, but what we want to do first and foremost is halt the sclerosis process, and usually you can loosen the areas that are recently sclerosed," she said, noting that she uses mycophenolate mofetil not just for diffuse disease, but also for limited cutaneous sclerosis.

In a small, prospective observational study (J. Rheumatol. 2012;39:1241-7) mycophenolate mofetil was associated with a significant decrease in modified Rodnan Skin Score and body surface area of involvement in 25 patients with recent-onset, diffuse cutaneous systemic sclerosis, she said.

"They all also had stabilization of their PFTs [pulmonary function tests], which in this population is really actually excellent," she said.

Notably, onset of action was slow; patients continued to worsen for about 6 months before improvement was seen.

"So it’s very different than when we’re treating patients with other cutaneous diseases with mycophenolate, where we might give them a 3-month trial, and if that doesn’t work we go to something else," said Dr. Vleugels. "You really have to keep these patients on this drug, and it’s a 6- to 9-month window before you really start seeing your vast improvement," she said.

Additionally, there was biopsy evidence of mycophenolate mofetil activity in the study: The fibrosis associated with pain improved, the collagen appeared more normal, and there was a return of adnexal structures.

In addition to mycophenolate mofetil, systemic steroids can be used if a patient is experiencing rapid progression of disease. Steroids should be used with caution because of the potential increase in risk of renal crisis, but they may be warranted because of the delayed onset of action with mycophenolate mofetil, Dr. Vleugels said.

As for treating children, few data are available for guidance, so treatment is based on the findings in adults. As an example, Dr. Vleugels described her experience with an 8-year-old child with extensive sclerosis, who had a good response to mycophenolate mofetil.

In adults and children who can’t take mycophenolate mofetil, or who fail to respond, intravenous immunoglobulin is an option.

"If they can’t get mycophenolate, I have been using IVIG in some patients," Dr. Vleugels said, describing one patient who also had multiple sclerosis and who couldn’t be prescribed "anything else in terms of immunosuppression."

However, "I gave her IVIG, and she improved fairly well," she said.

One of the goals is to reduce longer-term complications.

"So we need to recognize the puffy hand sign and intervene based on skin disease alone – even if they don’t have active internal involvement, because that’s really the time when, hopefully, we can make a difference in these patients," she said.

Dr. Vleugels reported having no disclosures.

Treat systemic sclerosis early and aggressively