When cold fingers become disabling

Interview with PhD candidate Femke van Rhijn

If I forget my gloves when cycling to work in winter, my fingertips get cold and may even turn a little white. No cause for concern since I know that once I warm up with a cup of hot chocolate, I’ll be fine. Not so for my patients. Their fingertips turn blue and white after something as simple as opening the refrigerator door.

Every Monday, I’m in the clinic where I examine their fingers. By the time they walk into the UMC Utrecht, they’ve already received a diagnosis from their primary care physician. Under the microscope, I can easily see damaged blood vessels, and together with other tests, my colleagues and I sometimes have to sadly confirm the diagnosis of systemic sclerosis.

An immune response that doesn’t turn off

Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue where hardening of the skin is the most visible symptom. Unfortunately, we really only know the consequences of this potentially debilitating disease: a patient’s immune system is activated but attacks the healthy cells in his/her body, resulting in damage to blood vessels and fibrosis. There is no known cause, no two cases are alike and there is no cure. Many patients with SSc will develop open sores (ulcers) on their fingers to a point where they cannot perform daily activities.

There is no known cause, no two cases are alike and there is no cure for Systemic sclerosis

Femke van Rhijn, PhD candidate
Verhaar group, Nephrology & Hypertension, UMC Utrecht

Current ulcer treatments, such as vasodilatory agents, antibiotics and other supportive care don’t work well at healing ulcers. The anguish I see my patients endure, combined with a sense of what more can I do, has propelled me into investigating the biology behind this devastating disease. I’m actively involved in research looking for a potential stem cell-based therapy to improve digital ulcer healing in SSc. The interplay of being a physician and a scientist gives me the ability to truly converge both aspects for the good of our patients.

Stem cell therapy may warm things up

We’re starting a clinical trial at the UMC Utrecht to look at the safety and efficacy of mesenchymal stem cell (MSC) therapy for patients with finger ulcers. MSCs are a special type of stem cell found in the bone marrow, peripheral blood and cord blood that can mature into bone, cartilage, muscle, skin and fat cells. There are several advantages to using allogeneic (donor) MSCs: they release immunosuppressive factors and attract local tissue immune cells to reduce inflammation and, once they’ve done their job, transplanted MSCs are rapidly cleared from the body.

We plan to administer 8 injections into the major muscles of a patient’s hands and arms. Cells, unlike medicinal drugs, are a living product and therefore respond to their environment. We’ll follow our patients for a year to study the molecular mechanisms of how MSC treatment can benefit them. Based on previous literature and on our own research, we hope to see positive results within a few months after treatment.

In the future, I hope that we can offer a real curative treatment to SSc patients with finger ulcers, giving them the back the ability to use their hands.