Rheumatology

1. Rheumatology • Debbie King FNP • Nursing 8800

2. Scleroderma • Derived from the Greek words "sklerosis," meaning hardness, and "derma," meaning skin, scleroderma literally means hard skin. Though it is often referred to as if it were a single disease, scleroderma is really a symptom of a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. It is sometimes used, therefore, as an umbrella term for these disorders. In some forms of scleroderma, hard, tight skin is the extent of this abnormal process. In other forms, however, the problem goes much deeper, affecting blood vessels and internal organs, such as the heart, lungs, and kidneys. • Scleroderma is called both a rheumatic (roo-MA-tik) disease and a connective tissue disease. The term rheumatic disease refers to a group of conditions characterized by inflammation and/or pain in the muscles, joints, or fibrous tissue. A connective tissue disease is one that affects tissues such as skin, tendons, and cartilage.

3. Patho • Damage to cells lining the wall of small arteries • Build up of tough scar like fibrous tissue • Overproduction of collagen in connective tissue • Can prove degenerative and life threatening

4. Patho • FYI • Scleroderma is NOT • Contagious • Infectious • Cancerous • Malignant • And probably not genetic ??

5. Types of Scleroderma • Localized • Morphia • Linear • Systemic • Limited (CREST) • Diffuse

6. Impact • How serious • Varies • Depends on affected area • Depends on extent of affection • A mild case can become more serious if not diagnosed and properly treated by a qualified provider!!! • Prompt treatment may minimize the symptoms and lesson the chance of irreversible damage!!!

7. Course of disease • Highly individualized disease • Never the same presentation • Is life long chronic disease • First few years are rocky • Will quiet down after first few years • May have periods of remission

8. Limited (CREST) • Systemic • Effects wide spread • Usually does not affect internal organs • Has a positive outlook • CREST- not used much anymore, referred to as limited cutaneous systemic sclerosis • C-calcinosis, R-Raynaud's, E-Esophageal dysfunction, S-Sclerodactyly, T-Telangiectasia

9. Diffuse Scleroderma • Systemic • Affects skin, connective tissue, organs • May be slow or rapid • May overlap with other disease • e.g.. Mixed connective tissue disease

10. Signs and Symptoms • Skin • Pronounced puffiness (always first) • Tightening • Discoloration • Thickening • Numbness • Tingling • Telangiectasis • Calcinosis • Loss of hair • Decreased sweat glands

11. Vascular Changes • Hands or feet change color- blanching • Reddish spots-- telangiectasis • Ulcers on fingertips, knuckles, elbows • Visible capillaries around nails

12. Bone and Muscle Changes • Arthritis • Brittle bones • Bone loss • Decreased mobility of fingers • Muscles near shoulders and hips weaken • General weakness

13. GI Changes and Effects 80% of patients with Scleroderma are affected in this body system Decreased esophageal mobility Increased heartburn Difficulty swallowing Constipation Mal-absorption Watery diarrhea

14. Respiratory Changes • This system can be the most severely affected • Dry cough • SOB • Difficulty taking deep breaths • SEEN ANY PATIENTS LIKE THIS???

15. Other General Signs and Complications • Weight loss • Fatigue • Pain • Unexplained swelling • Internal organ problems • Sjögren's syndrome

16. Other General Signs and Complications • Auto-immune disorder of liver • Thyroid dysfunction • Nerve damage • Impotence- first sign for many men • Brain changes in late disease

17. Causes • - most commonly accepted theory • Unknown inciting event triggers injury probably to cells lining the blood vessels. Autoimmune reaction leads to stimulation of fibroblasts (cells that make collagen). Net result is accumulation of collagen and other connective tissue components in parts of the body such as skin, lungs ECT…

18. Epidemiology • Who gets scleroderma • 300,000 cases in US, 80-100,000 are systemic form • Develops between ages 25-55 (or any age) • Women 3-4 times more than men • Prognosis worse in men • Regional outbreaks • Incidence unknown around the world • European decent more common • Increasing numbers in African Americans • Not directly inherited, some scientist feel a slight predisposition in families with history of rheumatoid disease

19. General Outlook • No cure • There are current treatments to minimize irreversible damage • Does not always shorten life span with proper diagnosis and treatments! • Localized- good prognosis with normal life span • Diffuse- can be acute or rapid, often affects organs • Cost to US alone was over 1.5 billion a year in 1998 (sorry no current number was found)

21. Head and Neck Manifestations • 80 % have, 30% present with • tight skin, thin lips, vertical perioral furrows • dermal and subcutaneous inflammatory process • edema precedes epidermal atrophy, loss of appendages

22. Head and Neck Manifestations • decreased mouth opening • initial complaint 19%

23. General Diagnosing • History-including symptoms • PE including skin, nails, lungs, tendons/joints • Skin biopsy or Kidney biopsy • Labs • ANA, Anti-scleroderma 70 antibodies(is positive in diffuse), nailfold capillary microscope exam, FANA-an auto antibody(positive in most all scleroderma), anti-centromere antibody (positive in limited),anti-topoisomerase, anti-U1 RNP • EKG may be abnormal • Many will first be diagnosed with mixed connective tissue disease • Refer to Rheumatologist and Dermatologist

24. More Labs • Special Stains and Immunohistochemistry • Direct immunofluorescence: • usually negative29,30 • Immunoperoxidase techniques: • reduced number of CD34-positive cells31 • Other investigations • Serum levels of various enzymes and substrates involved in sclerotic process:32–37 • have been used as indicator of disease activity • Antibodies • Anticentromere: • in up to 70–80% of cases of limited systemic scleroderma38–43 • Anticardiolipin: in subset with lupus-like features44 • Anti-cytoplasmic antigen Ro/SSA: ≈35% of cases45 • Antinuclear: almost all cases • usually speckled or nucleolar pattern40,46–48 • Autoantibodies to Fc receptor: • ≈50% of cases49 • Anti-Scl-70 (antitopoisomerase): • ≈30% of cases1,50,51 • Antineutrophil cytoplasmic of perinuclear type (p-ANCA): • Small number of cases

25. GI Complications • Most common is GERD-sched frequent scopes! • Difficulty swallowing • Scarring in lower intestine • Peroration of bowel • Constipation • Diarrhea • Mal-absorption • Fecal incontinence

26. GI Complications Gastroparesis-the retention of food in the stomach • Diverticulitis • Watermelon stomach-dilated blood vessels lining the walls of the stomach which may bleed • Small intestine bacterial overgrowth syndrome

27. GI Treatments • General GERD Treatments • Decrease carbonated beverages • Decrease caffeine • Avoid regular and decaffeinated coffee • Walk regularly • Remain upright after meals • Avoid bedtime snacks • Increase head of bed • Chew gum • No set dietary restrictions except above

28. GI Treatments • GERD • Antacids • H-2 Blockers • Proton Pump Inhibitors • Carafate • Dilated strictures in esophagus • Dilatation

29. GI Treatments • Swallowing • GI stimulants e.g. Reglan • EES- may improve heartburn • Sandostatin- IM, may improve motion of bowel • Constipation • Bulking agents • Softening agents • MiraLAX • Zelnorm

30. GI Treatments • Small Intestine Dysfunction • E.g.-Bacterial overgrowth-Diarrhea • 2-3 weeks on then 1-2 weeks off, one of the following: • Tetracycline • Ampicillin • Flagyl • Vanco • Cipro • Augmentin • Zithromax • Bactrim DS • Some have such severe infections they need constant treatment, which leads to other possible problems

31. Lung Complications(will occur in the first 5 years) • Pulmonary fibrosis • Pulmonary HTN • Cor pulmonale • Interstitial Lung disease- Scleroderma is the number one cause

32. Lung Complications Frequently occurs in systemic, may be seen in limited, but will not be seen in localized • Is worse in Men and African Americans • Patients with positive Scl-70 antibody are at highest risk

33. Lung Tests • O2 Sats • PFT • High resolution CT • Bronchoscope with lavage • Biopsy • Echo • Cardio-pulmonary exercise test

34. Respiratory Treatments • First must ID alveolitis • Then suppress with • Steroids (low doses only-20mg) • Immuno-suppressants • Pneumovax • Flu vax • O2 as needed • Rarely transplants • Remember to treat GERD as well

35. Respiratory Treatments • Pulmonary Arterial HTN • Refer to pulmonary HTN center • Endothium receptor antagonist • Prostaglandin derivatives • CA Channel Blockers

36. Raynaud's • Seen in 95% of scleroderma patients • Only 5% of population with Raynaud's have scleroderma • Treatments • CA Channel blockers • Angiotensin II receptor blockers • Other BP meds • Vasodilators • Keep warm, Live in warm climate • Exercise and Relaxation • Topical antibiotics-PRN

37. Cardiac Complications • Fibrosis • Rhythm disturbance • Congestive heart failure • Pericarditis • Pulmonary HTN

38. Cardiac Treatments • Same as with other causes for each problem • Refer for all cardiac complications

39. Kidney Complications • Increased protein (if seen-do full renal workup) • HTN (monitor BP very often) • Renal crisis- may be treated with Ace inhibitors , Is now used routinely in these patients • Malignant HTN-Refer • May be fatal • May lead to long term dialysis • Once treated, rarely reoccurs, if treated early!!

40. Kidney Complications • WARNING: Corticosteroids may lead to renal crisis. Prednisone or Medrol are used to treat several complications such as • Pulmonary Fibrosis • Pruritus • Joint Pain • New findings indicate corticosteroids can be implicated in precipitating renal crisis • If used-monitor closely

41. Kidney Complications • Seen only in diffuse scleroderma • Was leading cause of death until 25 years ago for these patients • First see increase in BUN and then serum creatinine (which suggest chronicity), and increase protein in urine • Seen in patients with rapidly progression skin disease Those with positive anti-RNA polymerase antibodies appear to be a greater risk

42. SKIN • Skin fibrosis • Refer to Derm • Treat with immuno-suppressants, but all have major side effects • Pruritus and Dryness • OTC lotions • Antihistamines

43. SKIN • Localized Scleroderma and Systemic • Plaquenil • Methotrexate • Prednisone • Phenytoin • Potassium P-aminobenzoate • D-Penicillamine • PUVA

44. Anemia • Related to: • GI bleed • Fe deficiency • Chronic disease • Hemolytic • Often treated with Procrit-epoetin

45. Oral, Facial Complications • Dry mouth • Increased dental caries • Widening of periodontal membranes • Facial changes are a real possibility for patients with both types of Scleroderma • 100% with systemic • 20% with localized

46. Oral, Facial Complications • These changes are progressive and not static • Most functional problems are due to microstomia (small mouth) • Eating • Talking • Kissing • ECT…

47. Face Skin Changes • Occur over several months to years • First is edematous which is painless • Second is indurative which is thickened dermis and thinned epidermal layer which leads to loss of wrinkles, hair follicles, sweat glands, and sebaceous glands. • Third is atopic-thickened dermis becomes thinner and tethering occurs with skin more attached to sub Q fat, then clusters of dilated and tortuous capillaries increase in a butterfly shape

48. Joint and Tendon Pain • Occurs with all systemic cases and can progress • Treat as arthritis • Stay active • Avoid fatigue • Avoid cold • PT – RRN • MEDS • NSAIDS, Cox-2 Inhibitor, Analgesics, Narcotics

49. Complication of Reactive Depression • Is not a surprising complication • Treatment is the same • SSRI • Tricyclic Antidepressants • ECT

50. Other General Treatments • Relaxin to help inhibit production of collagen and lessen existing excess collagen. Helpful with skin, lungs, hand flexing, and opening the mouth • Iloprost-vasodilator, is a analogue of prostaglandin. It also blocks certain cytokines, immune factors that appear to play an important role in the development of scleroderma. Best given IV • An ACE may save the kidneys, has even been known to bring back kidney function • Many investigational drugs • Stem cell and bone marrow transplants-used in early disease only, with limited benefits.