Rheumatology: Connective Tissue Diseases PDF

Internal Medicine: Rheumatology: Other Misc. Connective Tissue Diseases Scleroderma Scleroderma is an autoimmune disease resulting in 1) collagen replacing smooth muscle and 2) wide-spread extraneous collagen deposition. The typical patient has skin tightness in the hands and face and may suffer som...

Internal Medicine: Rheumatology: Other Misc. Connective Tissue Diseases Scleroderma Scleroderma is an autoimmune disease resulting in 1) collagen replacing smooth muscle and 2) wide-spread extraneous collagen deposition. The typical patient has skin tightness in the hands and face and may suffer some GERD or Raynaud’s. In reality, there are two types of scleroderma: CREST and Systemic Sclerosis. CREST is a limited disease that spares the heart and kidneys but has Skin and GI effects. On the other hand, systemic sclerosis is a diffuse disease affecting the trunk with cardiac (restrictive cardiomyopathy) and Renal (renovascular hypertension) effects. Scleroderma is mainly a clinical diagnosis but antibodies may aid getting there. Anti-Scl-70 (topoisomerase I) is positive in systemic disease while anti-centromere is positive in CREST. There’s also no treatment for the disease itself. Instead, treat the symptoms. Use Calcium Channel Blockers for Raynaud’s, Penicillamine for skin changes, steroids for acute flares, and aggressive treatment of hypertension with ACE-inhibitors. Collagen in the renal arterioles prevents dilation and constrict. This creates a prerenal picture by activating the renin-angiotensin-aldosterone axis, which exacerbates the hypertension. CREST: SYSTEMIC SCLEROSIS Calcinosis Raynaud’s Esophageal Dysmotility Sclerodactyly Telangiectasia CREST + Renal Heart Anti-Centromere PAH Anti-Scl-70 ILD Sjogren’s syndrome An inflammatory condition of exocrine glands due to lymphoplasmacytic infiltration. It can exist on its own (primary) or be part of another Rheumatological disorder (secondary). It’s easy to spot: Dry Eyes (Keratoconjunctivitis), Dry Mouth (Xerostomia), and bilateral parotid enlargement. It’s a clinical diagnosis assisted by antibodies (Ro or La which are specific but not sensitive) and tear production testing (Schirmer test). There’s no treatment so focus on symptom control (artificial tears/saliva). Polymyositis/Dermatomyositis/Inclusion Body Myositis These three inflammatory myopathies are lumped together because their presentation, diagnosis, and treatment are all the same (well, except IBM, which has no treatment). The underlying pathogenesis (T cell/Immune Complex/T cell respectively) results in the presentation of painful proximal muscle weakness (difficulty in rising out of a chair but intact grip strength) occurring slowly over time. There may be systemic involvement. The way it comes to light is usually the dermatological signs: 1) erythematous rash on sun-exposed areas (photosensitivity), 2) Heliotrope rash, a purple discoloration around the eyes with periorbital edema, and 3) Gottron’s Papules (pathognomonic), which are scaly areas symmetrically over major joints (wrists, elbows, knees, ankles). The first test is always EMG to determine if it’s a nerve conduction issue (MS, for example) versus muscular damage. A muscle biopsy is done to definitively diagnose and separates one disease from the other. Other tests may help. The CK will be elevated (muscular damage) and Anti-Jo or Anti-Mi antibodies may be present. The goal is to check for occult malignancy (as these are often a paraneoplastic syndrome) and treatment is with high-dose steroids. © OnlineMedEd. http://www.onlinemeded.com SCLERODERMA SJOGREN’S DM/PM/IBM Pt: Female, Thickened Skin on fingers, GERD, Raynaud’s Female Dry eyes Dry mouth Bi Parotitis Proximal Muscle weakness, tender, Heliotrope rash, Gottron’s Papules F: DM +PM, M: IBM Ab: Scl-70 = Diffuse Centromere = CREST Ro La Jo Mi Schirmer Dx: - EMG Bx MRI/CT (Cancer) Tx: Penicillamine CCB ACE Tear Production Symptom Relief Check for Malignancy High Dose Steroids 1