Scleroderma: Living with a Rare Autoimmune Disease

Visit scleroderma is a disease rare and chronic of connective tissue, caused by a excessive collagen production and disruptions vascular and immune [1]. It primarily affects women between the ages of 30 and 50, with a marked predominance of women (a ratio of about 4 women to 1 man). Recognized early on and closely monitored, it is now much better managed than it was two decades ago thanks to targeted therapies, at the routine screening visceral damage and to the multidisciplinary care. This article provides an overview of the different forms of the condition, warning signs, recommended follow-up care in Quebec, available treatments, and resources for those affected.

On this page

• Defining Scleroderma
• Localized and Systemic Scleroderma
• Raynaud's Phenomenon
• Other Signs to Look For
• Diagnosis
• Multidisciplinary Care
• Treatments
• Living with Scleroderma Day to Day
• Resources in Quebec and Canada
• Myths and Misconceptions
• Frequently asked questions
• Sources

Defining Scleroderma

The term scleroderma comes from the Greek sclero (hard) and derma (skin). It refers to a group of autoimmune diseases characterized by a thickening and a hardening of the skin and, in some forms, of the internal organs [2]. It is a rare disease : Its prevalence is estimated to be approximately 1 to 2 cases per 10,000 people in industrialized countries.

Three Main Mechanisms

• Autoimmunity : the immune system produces antibodies against the body's own tissues
• Vascular damage : Small blood vessels constrict and become damaged (Raynaud's phenomenon, digital ulcers, pulmonary hypertension)
• Fibrosis : excessive collagen production that causes the skin to harden and can affect the organs (lungs, kidneys, digestive tract, heart)
• Visit three mechanisms interact and account for the diversity of manifestations

Who is affected

• Especially the women (approximately 4 to 8 women for every man, according to studies)
• Peak of diagnosis between 30 and 50 years old
• May occur in children and seniors, less commonly
• All the origins Various ethnic groups are affected, with differences depending on the group (more severe forms in certain populations)
• Factors suspected environmental factors (exposure to silica, certain solvents), but the exact cause is unknown
• Component genetic predisposition present but not decisive

Key Takeaways

• Visit scleroderma is a rare, chronic autoimmune disease of the connective tissue
• It is divided into localized scleroderma (morphine, skin involvement only) and systemic sclerosis (possible skin and visceral involvement)
• Visit Raynaud's phenomenon is the first sign in the vast majority of people: fingers that turn white, then blue, and then red when exposed to cold or stress
• Visit diagnosis Early detection leads to a better prognosis by identifying visceral involvement (lungs, heart, kidneys, digestive tract)
• Visit Follow-up is multidisciplinary: rheumatologist, pulmonologist, cardiologist, gastroenterologist, nephrologist, physical therapist, family physician
• Visit treatments include vasodilators, immunomodulators, PPIs, and targeted therapies for lung disease
• Visit specialized centers in Quebec (CHUM, McGill, CHU de Québec) treat complex cases
• Scleroderma Canada and Scleroderma Quebec provide information, support, and advocacy

Localized and Systemic Scleroderma

Localized scleroderma (morphea)

• Infringement primarily cutaneous, in the form of thick, hardened plates
• No infringement systemic involvement of internal organs
• Several subtypes : patchy, generalized, linear (often in children), deep
• General trends more favorable
• Maybe to stop on one's own or cause cosmetic and functional complications
• Followed by dermatologist or a rheumatologist, depending on the complexity of the case
• Topical treatments, phototherapy, and immunomodulators if the condition spreads

Limited-form systemic sclerosis

• Formerly known as CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, telangiectasias)
• Skin lesion distal (hands, forearms, face)
• Evolution slower
• Risk of’pulmonary arterial hypertension (PAH) delayed
• Antibodies anti-centromeres often positive
• Prognosis variable depending on the organ involvement
• Long-term follow-up is essential

Diffuse systemic sclerosis

• Skin lesion extent (hands, arms, torso, face)
• Violations visceral possible at an earlier stage (lungs, kidneys, heart)
• Antibodies anti-Scl-70 (anti-topoisomerase) or anti-RNA polymerase III, which are often positive
• Increased risk of pulmonary fibrosis and renal crisis
• More Predictions reserved, but greatly improved by early intervention
• Tracking multidisciplinary intensive program at a specialized center

Comparison Chart of the Main Forms

Shape	Skin	Internal organs	Common Antibodies
Morpheus (localized)	Localized plaques	No infringement	Often negative
Limited systemic	Distal (hands, face)	PAH, GERD, esophageal motility disorder	Anti-centromeres
Diffuse systemic	Extent (trunk, limbs)	Pulmonary fibrosis, renal crisis, heart	Anti-Scl-70, anti-RNA polymerase III

Raynaud's Phenomenon

Visit Raynaud's phenomenon is the first sign in the vast majority of people with systemic scleroderma. It may precede the diagnosis of several years. Recognizing this is essential for guiding the assessment [1].

How does it manifest itself?

• Visit fingers (sometimes toes, nose, ears) turn white (ischemic phase)
• Then turn blue (cyanosis)
• Then blush (warming, reperfusion)
• Triggered by the cold or the emotional stress
• Often painful, sometimes numbness
• Variable duration: a few minutes to sometimes more than an hour
• Symmetrical usually

Primary and Secondary Raynaud's Syndrome

• Primary Raynaud's : no underlying medical conditions, often beginning in adolescence or young adulthood, more common, less severe, no ulcers, normal capillaroscopy
• Secondary Raynaud's : associated with a disease (scleroderma, lupus, Sjögren's syndrome, rheumatoid arthritis, others), often beginning after age 30, more severe, possible digital ulcers, abnormal capillaroscopy
• Visit occurred after 30 years, especially in women, justifies a rheumatological evaluation
• Other warning signs: chubby fingers, telangiectasias, ulcers, unusual fatigue

Evaluation by the doctor

• History Detailed medical history and physical examination
• Searching for Signs skin-related (thickening, telangiectasias, calcification)
• Capillaroscopy periungual (examination of the capillaries at the base of the nails)
• Blood test results: antinuclear antibodies (ANA), anti-centromere, anti-Scl-70, anti-RNA polymerase III
• Depending on the context: pulmonary evaluation (X-ray or CT scan, EFR), echocardiography
• Reference in rheumatology based on the results

Practical Steps for Managing Raynaud's

• Dress warmly the whole body (not just the hands)
• Wear mittens (warmer than gloves), thermal socks, hat
• Hand Warmers chemicals available at pharmacies or hardware stores
• Avoid the sudden changes temperature
• Stop smoking : Nicotine worsens Raynaud's
• Limit the caffeine, certain decongestants
• Manage the stress (relaxation techniques, breathing)
• Regular physical activity for improve traffic flow
• Seek advice for vasodilators if severe Raynaud's

Other Signs to Look For

Skin manifestations

• Thickening and hardening of the skin (sclerosis)
• Chubby fingers (puffy fingers), which often precede sclerosis
• Violation of the face : smooth, taut skin; reduced mouth opening (microstomia); radial folds around the mouth
• Telangiectasias (small visible veins on the face, hands, and torso)
• Calcinosis subcutaneous (calcium deposits)
• Digital Ulcers (on the fingertips, painful, slow to heal)
• Itching intense during the active phase
• Hyperpigmentation or hypopigmentation

Gastrointestinal symptoms

• Gastroesophageal reflux disease (GERD) marked, retrosternal burning, regurgitation
• Swallowing Disorders, a sensation of food «sticking»
• Violation of the esophageal motility
• Bloating, constipation alternating with diarrhea
• Violation of the’small intestine with bacterial overgrowth
• Malabsorption in some cases
• Risk of malnutrition, weight loss

Pulmonary manifestations

• Shortness of breath during exercise, and then at rest in advanced stages
• Dry cough persistent
• Pulmonary fibrosis (interstitial lung disease): the most common
• Pulmonary arterial hypertension (PAH) : increased pressure in the pulmonary arteries
• Decrease in the exercise tolerance
• Risk of complications severe if left untreated
• Screening routine in all patients with systemic sclerosis

Renal manifestations

• Scleroderma-associated renal crisis : sudden onset of severe high blood pressure
• More common in the diffuse form, in the first few years after diagnosis
• Symptoms: headaches, visual disturbances, shortness of breath, extreme fatigue
• Medical emergencies : immediate treatment with ACE inhibitors (angiotensin-converting enzyme inhibitors) such as captopril and enalapril
• Visit treatment Early intervention changed the prognosis
• Monitoring regular blood pressure

Cardiac Symptoms

• Palpitations, arrhythmias
• Fibrosis myocardial
• Pericarditis
• Violation of the coronary arteries
• Heart failure possible
• Review by echocardiography regular

Musculoskeletal symptoms

• Joint pain, morning stiffness
• Arthritis inflammatory possibilities
• Muscle Contractures fingers, loss of joint range of motion
• Tendinopathies
• Muscle weakness in some cases
• Violation of the let's with palpable «tendinous friction»

Diagnosis

Classification Criteria

• 2013 ACR/EULAR Criteria : a scoring system based on skin thickening, Raynaud's phenomenon, digital ulcers, telangiectasias, capillaroscopy, pulmonary involvement, and antibodies
• A diagnosis is possible if score ≥ 9
• Diagnosis early requires evaluation by a rheumatologist
• Visit clinical picture may be incomplete at first, which is why follow-up is important

Comprehensive Initial Assessment

• Medical History Detailed: Raynaud's, digestive, pulmonary, and joint symptoms
• Physical examination comprehensive, including a skin assessment (modified Rodnan score)
• Blood tests : FSC, biochemistry, renal function, creatinine, inflammatory markers (ESR, CRP)
• Antibodies : ANA, anti-centromere, anti-Scl-70, anti-RNA polymerase III, others as needed
• Capillaroscopy
• Pulmonary Evaluation : EFR (respiratory function tests) with DLCO, high-resolution computed tomography (HR-CT), 6-minute walk test
• Echocardiogram with measurement of pulmonary arterial pressure
• ECG, Holter monitoring as needed
• Digestive Evaluation : esophagogastroduodenal transit study, esophageal manometry if indicated, pH monitoring
• Renal Assessment : blood pressure monitoring, creatinine, urinalysis

Differential diagnosis

• Other autoimmune diseases : systemic lupus erythematosus, Sjögren's syndrome, polymyositis-dermatomyositis, mixed connective tissue disease
• Scleroderma-like related to certain medications or exposures
• Morpheus without systemic involvement
• Eosinophilic fasciitis
• Scleroderma (diabetes-related or post-infectious)
• Review by rheumatologist to confirm the diagnosis

Multidisciplinary Care

Follow-up for systemic sclerosis is multidisciplinary and coordinated by the rheumatologist. Depending on the nature of the condition, several specialists may be involved [3].

Stakeholders in the monitoring process

• Rheumatologist : leads the monitoring process and coordinates the evaluations
• Pulmonologist : Screening for lung disease (high-resolution chest CT, pulmonary function tests including DLCO, walking test)
• Cardiologist : Regular echocardiography for screening for PAH, cardiac evaluation
• Gastroenterologist : Severe GERD, motor disorders, malabsorption
• Nephrologist in cases of kidney damage
• Dermatologist depending on the skin manifestations
• Physical Therapist and occupational therapist : hand mobility, prevention of contractures, adaptation of activities
• Nutritionist in cases of malnutrition or digestive problems
• Psychologist : Support in Coping with a Diagnosis and Chronic Illness
• Family doctor or IPS: regular follow-up, management of comorbidities, coordination with specialists

Regular Screening Exams

• EFR with DLCO annually or more frequently, depending on symptoms
• Echocardiogram annual screening for PAH
• HR-CT thoracic, depending on symptoms and progression
• Blood pressure At each visit, self-monitoring is recommended
• Laboratory Tests (creatinine, complete blood count) regular
• Skin Assessment (modified Rodnan score) to track progress
• Assessment of Digital Ulcers and traffic

Specialized Centers in Quebec

• CHUM : University of Montreal Hospital Center
• McGill University Health Center (MUHC)
• Quebec City University Hospital — Laval University
• Sacré-Cœur Hospital from Montreal
• Regional Centers with a rheumatology consultation
• Programs for clinical research About Scleroderma
• Clinics specializing in PAH

Treatments

The treatment for scleroderma is custom depending on the type, location, and severity. It combines treatments symptomatic, treatments in-depth and support for complications.

Treatment of Raynaud's Syndrome

• Non-pharmacological measures as a first-line treatment (see the Raynaud's section)
• Calcium channel blockers dihydropyridines (amlodipine, nifedipine): first-line medication
• PDE5 inhibitors (sildenafil, tadalafil) in cases of severe Raynaud's disease or digital ulcers
• Iloprost as an infusion for recurrent digital ulcers
• Bosentan to prevent recurrent digital ulcers
• Followed by the rheumatologist

Treatment of the inflammatory and fibrotic component

• Mycophenolate mofetil : indicated, in particular, for pulmonary fibrosis and diffuse skin involvement
• Methotrexate : used for certain skin conditions
• Cyclophosphamide : reserved for severe lung disease
• Tocilizumab (anti-IL-6): indicated for pulmonary fibrosis associated with systemic sclerosis
• Rituximab : an option in certain situations
• Nintedanib : a pulmonary antifibrotic drug approved for the treatment of interstitial lung disease associated with systemic sclerosis
• Hematopoietic Stem Cell Transplant : an option for certain patients with severe diffuse disease, at specialized centers

Treatment of Digestive Symptoms

• PPIs (proton pump inhibitors) in a dose appropriate for GERD (pantoprazole, omeprazole, esomeprazole)
• Prokinetics (domperidone, metoclopramide) with caution
• Antibiotics cyclic compounds for bacterial proliferation
• Supplements nutritional needs in cases of malabsorption
• Measures hygiene and nutrition : smaller, more frequent meals; raising the head of the bed; avoiding alcohol and tobacco
• Followed by gastroenterologist in case of complications

Treatment of PAH

• Endothelin receptor antagonists (bosentan, ambrisentan, macitentan)
• PDE5 inhibitors (sildenafil, tadalafil)
• Prostanoids (epoprostenol, treprostinil, ilóprost)
• Stimulators soluble guanylate cyclase (riociguat)
• Often in jumpsuits
• Follow-up in center specializing in PAH

Treatment of Scleroderma-Associated Kidney Crisis

• Medical emergencies
• IECA (captopril, enalapril) as first-line therapy
• Monitoring narrow blood pressure and kidney function
• Dialysis is an option in cases of acute kidney failure
• Visit treatment Early intervention has changed the prognosis for this complication

Non-pharmacological approaches

• Physical Therapy and occupational therapy to maintain hand mobility
• Exercises in’stretching daily newspapers
• Application of heat, paraffin therapy
• Adaptation of the tools of everyday life
• Hydration intense skin
• UVA1 Phototherapy for certain localized forms
• Psychological support in the face of chronicity

Do you have Raynaud's disease after age 30, or symptoms suggestive of scleroderma? Omicron Clinic evaluates Raynaud's phenomenon, performs an initial assessment (antibody testing, capillaroscopy through a referral), and refers patients to rheumatology as needed at our locations in Quebec. Make an appointment or opt for the teleconsultation.

Living with Scleroderma Day to Day

Skin Care

• Hydration regularly, several times a day
• Products hypoallergenic, fragrance-free
• Baths lukewarm rather than hot
• Avoid the soaps aggressive
• Sun Protection rigorous
• Healthcare specific hands and face
• Treatment fast wounds and ulcers

Nutrition and Digestion

• Smaller meals and more frequent
• Well chew, take your time
• Avoid the’alcohol, tobacco, and highly acidic or spicy foods, depending on tolerance
• Raise the head of the bed (15–20 cm) to reduce nighttime reflux
• Don't’extend immediately after meals
• Drink enough water
• Consultation nutritionist in cases of severe digestive problems

Physical Activity

• Maintain regular activity, depending on one's abilities
• Exercises in’joint range of motion
• Aerobic moderate (walking, stationary bike, swimming in warm water)
• Stretching gentle on the hands, face, and torso
• Adjust according to the specific impairments pulmonary and cardiac
• Collaboration with physical therapist or kinesiologist

Refrigeration Management

• ’S’"dress thoroughly, in layers
• Reheat the whole body, not just the hands
• Avoid the sudden changes temperature
• Hand Warmers and thermal socks
• Travel to warm climate appreciated by many patients
• Precautions When freezers, excessive air conditioning, etc.

Psychological and Social Aspects

• Shock common at the time of diagnosis
• Adaptation to a chronic disease with uncertainty
• Impact on the’body image (face, hands)
• Adaptations professional depending on the injuries
• Support from Neighbors essential
• Groups support through specialized organizations
• Support psychological if needed
• Maintenance of social activities, adapted recreational activities

Pregnancy and Scleroderma

• Pregnancy possible in the majority of cases
• Planning essential consultation with the rheumatologist and the obstetrician
• Preliminary Assessment of Impacts pulmonary, cardiac, renal
• Adaptation of the medications before conception
• Follow-up in high-risk pregnancy in systemic forms
• PAH is a contraindication pregnancy due to high maternal risk
• Discuss the contraception appropriate

Resources in Quebec and Canada

Specialized Organizations

• Scleroderma Canada — scleroderma.ca
• Scleroderma Quebec — sclerodermie.ca
• Canadian Rheumatology Society
• Arthritis Society
• Association of Patients with Rare Diseases in Quebec
• Federation of European Scleroderma Associations (FESCA)
• Scleroderma Research Foundation

Support and Information

• Groups support for patients and their loved ones
• Programs information about the disease
• Webinars and specialized conferences
• Forums online moderate
• Magazine Scleroderma and newsletters
• International Day of scleroderma (June 29)
• Help for administrative procedures (RAMQ, insurance, disability)

Search

• Canadian Scleroderma Research Group (CSRG) — Canadian registry
• Education clinics on college campuses
• Programs for search on targeted therapies and fibrosis
• Option to participate in clinical trials based on patient profiles
• Progress on the biomarkers for risk stratification

Recognition and Assistance

• Quebec Pension Plan (RRQ-D) in the event of disability
• Canadian Benefits disability (RPC)
• Tax Credit for People with Disabilities
• Prescription Drug Insurance RAMQ or private insurance
• Medicines exceptional with a RAMQ request for certain therapies
• OPHQ for information and guidance

Myths and Misconceptions

«Scleroderma is an incurable disease; there's nothing we can do.»

False. Scleroderma is column, but she milk. Therapeutic advances over the past two decades (targeted therapies, early detection of disease, multidisciplinary care) have considerably improved prognosis and quality of life. The majority of patients live many years with stability or slow growth.

«Raynaud's is always a sign of a serious illness.»

False in most cases. Visit Primary Raynaud's is present in many people without underlying medical conditions, often since adolescence. It is more common than secondary Raynaud's. But its occurred after 30 years, especially in women, or the presence of other symptoms, warrants an evaluation to rule out an underlying autoimmune disease.

«Scleroderma affects only the skin»

Partially true. Visit localized scleroderma (morphine) primarily affects the skin. The systemic sclerosis, on the other hand, can reach as high as internal organs (lungs, heart, kidneys, digestive tract). That is why the screening Systematic evaluation of organ involvement is essential in patients with systemic sclerosis.

«You can't have children if you have scleroderma.»

False. Pregnancy is possible in most cases, provided that planning with the medical team. PAH is one of the few absolute contraindications. For other forms, monitoring during high-risk pregnancies generally allows for a smooth course of the pregnancy satisfactory. The discussion preconception is essential.

«Scleroderma is contagious»

False. Scleroderma is a disease autoimmune, non-contagious. It is not transmitted through contact, respiratory droplets, or any other means between people. The component Genetics plays a role, but scleroderma is not a hereditary disease in the strict sense.

Frequently asked questions

What is the life expectancy for people with systemic sclerosis?

Varies depending on the form and infringements. The localized scleroderma does not affect life expectancy. The limited form generally has a favorable prognosis. The diffuse form with severe organ damage (PAH, advanced pulmonary fibrosis, cardiac involvement) can reduce life expectancy, but the modern treatments have significantly improved the prognosis. A early diagnosis and a rigorous monitoring are the best prognostic factors.

What is capillaroscopy used for?

Visit capillaroscopy is an exam noninvasive which displays the blood capillaries at the base of the nails. It helps to distinguish primary Raynaud's (normal capillaries) from secondary Raynaud's (suggestive abnormalities). It is a key element for the evaluation of suspected cases of scleroderma. Available at certain rheumatology practices and specialized centers in Quebec.

How is the blood test for antibodies performed?

A routine blood test allows for the quantification of multiple antibodies: antinuclear antibodies (ANA), anti-centromeres, anti-Scl-70 (anti-topoisomerase I), anti-RNA polymerase III, and others as needed. These antibodies help with diagnosis and direct toward the form. No special preparation is required. The doctor interpreter the results in the clinical context.

Are mycophenolate and other immunosuppressants dangerous?

These treatments have possible side effects (infections, digestive disorders, liver damage, changes in blood counts) that warrant a regular monitoring (blood tests, clinical monitoring). But they are essentials in controlling the disease and preventing serious complications. The risk-reward ratio is generally favorable. The vaccination (including influenza, pneumococcal disease, and shingles) is recommended in accordance with established protocols, while avoiding live-attenuated vaccines during treatment.

Is Quebec's cold weather a major obstacle?

Yes, the’Quebec winter poses a challenge for people with severe Raynaud's disease and scleroderma. The precautions are essential: warm, layered clothing, hand warmers, appropriate transportation, and limiting extended outings in extreme cold. Many people choose travel to warm climates in the winter. Talk to your doctor about the’intensification Vasodilators may be helpful during the cold season.

What should you do if you have a finger ulcer?

Visit digital ulcers are common and painful. Quickly look up. The local care (gentle cleaning, appropriate dressings, infection prevention) are essential. The vasodilators are optimized. Specific medications (iloprost by infusion, bosentan (for prevention) may be prescribed. The Pain must be treated. Quitting smoking is imperative because it makes ulcers worse.

Sources

1. EULAR — European League Against Rheumatism. Recommendations for the Treatment of Systemic Sclerosis.
2. Scleroderma Canada. Information on scleroderma, resources, and support.
3. INESSS — National Institute for Excellence in Health and Social Services. Medications for Rheumatology.
4. Canadian Rheumatology Society. Guidelines and Information on Rheumatic Diseases.
5. Canadian Scleroderma Research Group (CSRG). Registry and clinical studies.
6. American College of Rheumatology / EULAR — 2013 Classification Criteria for Systemic Sclerosis.
7. Scleroderma Quebec. Information and Support for People with the Condition in Quebec.

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