This blog post summarises the key insights from the latest Virtual Education Session (VES) led by Dr Tracy French, the Division Director of Rheumatology at Vanderbilt University Medical Center, who is a specialist in scleroderma. She is presently working on research in collaboration with other centres on the importance of early intervention and patient feedback in advancing care and treatments for scleroderma, particularly digital ulcers and vascular issues like Raynaud’s phenomenon.
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Digital Vasculopathy in Scleroderma:
- Definition
Dr French provided a comprehensive exploration of the complexities surrounding the diagnosis and management of digital vasculopathy in scleroderma, emphasising the importance of using the term “digital vasculopathy” rather than focusing solely on “digital ulcers” or “Raynaud’s phenomenon.” According to Dr French, it’s crucial to view Raynaud’s phenomenon and the resulting digital lesions as part of a spectrum of vascular abnormalities, specifically vasospasm, which occurs as part of the disease process. She explained that while “vasculitis” refers to inflammation of the blood vessels, the term “vasculopathy” in the context of scleroderma refers more broadly to any abnormality or dysfunction of the blood vessels, regardless of whether inflammation is involved.
- Terminology
The terminology can be confusing, especially in the context of scleroderma, because the vascular issues can range from functional changes like vasospasm (in which blood vessels constrict and limit blood flow) to more structural issues such as thickening or scarring of the blood vessel walls. Understanding these nuances is important for accurate diagnosis and effective treatment, as these conditions require different approaches.
- Early detection
She also highlighted the significance of early detection and intervention, explaining that when digital vasculopathy is identified early, the outcomes for patients can improve dramatically. These early diagnosis and treatment of digital vasculopathy can be facilitated by careful, methodical assessments of the hand and fingers. This is critical because the vascular issues in scleroderma can often manifest in subtle ways that might not be immediately obvious but can significantly impact your quality of life if left untreated.
Raynaud’s Phenomenon (RP) and Digital Ulcers:
- Challenges in Trials
There are challenges in designing large-scale studies due to the rarity and heterogeneity of scleroderma and its manifestations (like RP and digital ulcers). This includes variations in disease progression, the presence of specific autoantibodies, and the variability in symptoms.
Further, one of the primary obstacles in advancing treatment options for RP and digital ulcers is the lack of consensus on endpoint definitions that can capture the constructs of how a patient is feeling, functioning, or surviving. This is critical for drug approval by the FDA.
- Confirming RP diagnosis
It is critical to distinguish true Raynaud’s from other conditions that may cause similar symptoms (e.g., carpal tunnel syndrome, nerve compression). A clinical exam is necessary, including a detailed history of cold exposure, stress-related symptoms, and a bilateral colour change (classic sign of RP).
It’s important to rule out other causes of tingling or numbness, such as frostbite, vibration injury (common in military or industrial work), tobacco use, or carpal tunnel syndrome when confirming RP diagnosis.
Also be aware of genetic predispositions, particularly for Raynaud’s phenomenon, which can serve as an early indicator for scleroderma. A study using the Utah Population Database demonstrated that family members of scleroderma patients are significantly more likely to exhibit Raynaud’s, autoimmune diseases, or other comorbid conditions, emphasising the role of genetic risk factors in scleroderma onset.
- Current Treatment Options
First-line treatments: Calcium channel blockers (e.g., Amlodipine, Nifedipine) are commonly prescribed for RP. However, these are not FDA-approved for RP treatment, and their use can be limited by side effects like heartburn and swelling.
Phosphodiesterase inhibitors (e.g., Sildenafil, Tadalafil) are recommended for digital ulcers, though they can be costly and challenging to access through insurance in the US.
Endothelin receptor antagonists (e.g., Bosentan, Ambrisentan) are typically used for pulmonary arterial hypertension but are showing promise for digital ulcers as well.
Prostacyclin analogs (e.g., Iloprost) are effective but expensive and difficult to access in the US, although they’re included in European guidelines.
Global Variation: Treatment availability varies widely by region. For example, in the US, access to more expensive medications like endothelin receptor antagonists is limited, whereas in Europe, these treatments are more commonly available. This is why guidelines may differ across countries.
The Role of Nailfold Capillaroscopy:
- Diagnosis and Monitoring
Nailfold capillaroscopy (examining the blood vessels at the base of the nail) is crucial for diagnosing scleroderma and monitoring its progression. Changes in the capillary network, such as loss of blood vessels, are associated with the development of digital ulcers.
Patients are encouraged to examine their own hands for signs of swelling, skin tightening, or new telangiectasias, and communicate these changes to their healthcare providers.
Using Smartphones for Capillaroscopy: Affordable devices (e.g., dermatoscopes, USB microscopes) can be used by physicians and even patients themselves to capture and monitor capillary changes. A smartphone with magnification can serve as a basic tool for this, although specialised devices are more precise.
Comorbid Conditions to Consider:
- Carpal Tunnel Syndrome
Carpal tunnel can worsen hand symptoms and should be considered in patients with scleroderma. Patients with RP-like symptoms who also have carpal tunnel may benefit from surgery to relieve nerve compression.
- Thyroid Disorders
Hypothyroidism can exacerbate hand symptoms, and regular thyroid screening is recommended for patients with scleroderma.
Patients should regularly review their medications, especially those that can negatively impact circulation (e.g., beta blockers, stimulants), and discuss any changes with their healthcare provider to ensure symptoms aren’t misdiagnosed.
Personalised Treatment and Monitoring:
- Symptom tracking
Patients are encouraged to be proactive about tracking their symptoms and changes, including the number and severity of digital ulcers, pits, or skin tightening. Regular assessments and communication with healthcare providers are key to optimising treatment.
- Hand care
Regular hand care, including managing swelling and using compression garments or gloves, is important in preventing long-term complications. For patients with ulcers, using wound care strategies (like Manuka honey) can be beneficial.
- Understand Disease Activity vs. Damage
There is an important distinction between disease activity and accumulated damage in scleroderma which is critical for patient care and can help refine treatment goals—aiming to prevent damage while managing disease activity. By monitoring your symptoms and having open communication with your doctors, this distinction can be identified and considered in further treatment options.
- Exercise and Vascular Health
Exercise is a natural vasodilator, with research showing that patients who engaged in exercise had better vascular outcomes, even in the face of fixed contractures or other scleroderma-related complications. A tailored exercise program is a promising strategy to improve both blood flow and overall vascular health in people with scleroderma.
- Nutrition and GI Health
Gastrointestinal health, antioxidant intake, and wound healing are intrinsically connected, meaning by focusing on diet, particularly fresh and nutrient-dense foods, patients can support both their immune function and the healing of chronic wounds. This holistic approach is highly encouraged, integrating nutrition, exercise, and medical care to optimise treatment outcomes.
Future Directions:
- Biomarkers and Personalised Medicine
There is increasing recognition that scleroderma is heterogeneous, with different inflammatory profiles affecting disease progression. By identifying these profiles early, it may be possible to tailor treatments more effectively, whether they be immunosuppressive therapies or vasodilators.
- Research and Data Collection
Continued collaboration between clinics, registries, and research groups is essential to accelerate the development of new treatments and gain a deeper understanding of the disease’s vascular component. This includes collaborative research, both between patients and researchers, and between countries (e.g., Australian and UK researchers), to accelerate drug access.
For those living with Scleroderma, staying updated and informed can make a world of difference. Connecting with others can also be hugely beneficial. Find out more about support in your area here.
If you’d like to gain firsthand knowledge, our National Education Sessions and Virtual Education Sessions are available to you at no charge. Our Virtual Education Sessions are held every month through Google Meet. You can sign up for these free Virtual Education Sessions here.
These sessions provide an opportunity to engage with medical professionals and seasoned legal experts who will address common inquiries about Scleroderma and related topics.