5.6 Scleroderma and related conditions Scleroderma is a generic term encompassing a spectrum of complex autoimmune conditions with similar, or overlapping clinical features. These can range from relatively localized disorders such as primary Raynaud’s phenomenon, to significantly more debilitating systemic diseases, including systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) (Denton & Black 2002; Assassi et al. 2007). This umbrella term encompasses SSc, SLE, mixed connective tissue disease (MCTD), Sjögren’s disease (SjD), primary/secondary Raynaud’s phenomenon (PRP/SRP), and rheumatoid arthritis (RA). Scleroderma denotes a condition presenting as thickening, hardening, and scarring of the skin. Systemic refers to an autoimmune condition that affects the internal organs as well as the skin and superficial (subcutaneous and “deep investing”) fascia layers. This chapter will focus on the systemic forms of the disease because of their wider significance for manual therapy (MT) intervention. 1. All are chronic, inflammatory, autoimmune conditions. 2. Etiology is multifactorial, with potential genetic, environmental, physical, and emotional health predisposing factors, with no known cause. Excessive coincidence or accumulation of such factors in relation to the individual’s specific immune tolerance triggers a “mistaken identity” failure within this system. Healthy body cells are erroneously interpreted as foreign, threatening entities to be destroyed by the creation of associated antibodies. Blood tests can identify disease-specific abnormal antibodies which predominantly target the skin and fasciae or connective tissues (CTs) (Denton & Black 2002). 3. Prevalence is eight times greater in women than men, with onset between the mid 20s and mid 50s. 4. While various interventions, including drugs, can help stabilize and manage these conditions, they have no known cure. Chronic inflammation of the affected tissues leads to debilitating consequences including severe pain, fatigue, further immune system overload, tissue and organ damage, loss of functional autonomy, and quality of life. Complications from systemic forms of scleroderma, usually associated with infection, critical cardiorespiratory or renal failure, can be fatal, though survival rates have risen significantly (Denton & Black 2002), with SLE survival rates improving from < 50% at 5 years in the 1950s, to 85% at 10 years nowadays (Merrell & Shulman 1955; Urowitz et al. 1997; Bernatsky et al. 2006; Abu-Shakram 2008). 5. Pathological hardening, thickening, scarring of any tissue affects three essential systems of immediate and significant relevance to manual therapy (MT): The most significant consideration from a MT perspective is the impact of scleroderma on the CTs or fasciae. A sound understanding of how these are affected is critical to appropriate clinical reasoning, and an effective treatment and management plan. Martin’s (2009) case study of a diffuse systemic sclerosis (dSSc) patient summarizes the pathological processes involved, which are characterized by fibrotic changes associated with fibroblastic cell over-activity, leading to collagen overproduction within those tissues (Denton & Black 2002). Ensuing adverse tissue changes include thickening, shortening, hardening, and scarring, which in turn result in reduced range of motion (RoM), vascular, lymphatic, neural, joint, and visceral compression and constriction. Consequences include ischemic pain, with potential local tissue necrosis or infection, sensory, motor, and autonomic dysfunction, and further immune deregulation, thus completing the “downward spiral”(Adams et al. 2002; Denton & Black 2002). This intricately linked neurovascular–fascial pathology accounts for much of patients’ pain, functional impairment, and psychological distress (Findley & Schleip 2007; Martin 2009). More rarely, interstitial pulmonary fibrosis as described above can progress to severe lung damage, triggering an immunoinflammatory response in the heart. This presents as pericardial swelling, left ventricular (“pressure pump”) hypertrophy against reduced right ventricular (“volume pump”) input in response to pulmonary arterial hypertension, arrhythmia, and diastolic dysfunction. Fibrosis of the heart muscle can be a further serious risk factor (Stamenkovic 2008, Allanore 2010). 1. Upper GI tract: the lower esophageal sphincter (LES) opens upon swallowing, to enable food to be propelled into the stomach, and closes in between swallowing to prevent reflux of stomach contents back into the esophageal tube in a coordinated way, and is an essential part of overall peristalsis (Gaumnitz & Fayyad 2009). Atrophy and fibrosis result in acid and general stomach contents reflux when reclining, bending forward, or even sitting after food or drink consumption. Second, it results in difficulty in swallowing, notably solid food, and particularly when time has elapsed since fluid intake and/or with low salivation. 2. Mid/lower GI tract: smooth muscle atrophy and fibrosis can result in distention of the intestinal diameter, leading to inefficient, sometimes bidirectional peristalsis. Poor peristalsis can lead to cyclical episodes of bacterial overgrowth; symptoms can include alternating bouts of constipation and diarrhea, nausea, sometimes with vomiting, abdominal bloating, swelling, severe pain, tenderness, and extreme exhaustion. 3. Lower GI tract extremity/anal canal: fibrotic damage to the neurovascular–fascial structures of the inner and/or outer anal sphincter(s) affects the sensory-motor supply to the pelvic floor musculature, inhibiting the normal closure reflex. This can cause loss of full bowel control and intermittent leaking or incontinence.
What is “scleroderma”?
Clinical features of special relevance to MT
Features affecting the neurovascular and fascial systems
Myo- and pericardiac damage
GI tract
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