1. Scleroderma Prepared by Dr. R MUSA

4. Hand of the patient

5. Face of scleroderma

8. Scleroderma Scleroderma: It is a term which includes a heterogenous group of limited and systemic conditions causing hardening of the skin. Systemic sclerosis: It is an extension of the disease process which implies involvement of both skin and other sites, particularly central internal organs.

10. Juvenile scleroderma Scleroderma reported in children since 1880

11. Scleroderma Incidence 4.5 to 12 New cases / million population /year Disease with Female Preponderence Over all Male to female ratio 1:3 Reproductive age 1:8

15. Scleroderma Clinical Features: Fibrous thickening affects skin, muscles, joints, tendons, nervous system and certain internal organs especially esophagus, intestinal tract, lungs and kidneys

16. Raynaud's phenomena

27. Kidney involvement Signs of kidney involvement, proteinurea and mild hypertension, are common. The degree of severity depends on whether it is acute or chronic. Slow Progression. The typical course of scleroderma in the kidney is a slow progression that may produce some damage but does not usually require dialysis. Renal Crisis . The most serious.It occurs in about 20% of patients with diffuse scleroderma, usually early in the course of the disease. This syndrome includes a life threatening condition called malignant hypertension , a sudden increase in blood pressure that can cause rapidly progressive kidney failure.

28. Scleroderma Lungs complication (20% of cases) Dyspnoea Pulmonary hypertension Respiratory Failure Diffuse Interstitial Pneumonitis and Fibrosis Honeycomb Lung

30. continue This condition may be fatal . In one study, 70% of patients who developed severe kidney problems did so within the first three years of the diagnosis of scleroderma. Until recently renal crisis was the most common cause of death in scleroderma. Aggressive treatment with anti-hypertensive drugs, particularly those known as angiotensin-converting enzyme (ACE) inhibitors , is proving to be very successful in reducing this risk. Once the condition is successfully treated, recurrence is rare .

31. Heart involvement Although many patients with even limited scleroderma have some sort of functional heart problem, most patients, even those with diffuse scleroderma, do not have severe heart conditions. Fibrosis of the Heart The most direct effect that scleroderma has on the heart. It may be very mild or it can cause pain, lower blood pressure. it increases the risk for heart rhythm disturbances , congestive heart failure and pericarditis . Fortunately, severe complications are uncommon and occur in only about 15% of patients with diffuse scleroderma. As with other serious organ complications, they are more likely to occur within three years of the onset of the disease . Effects of Pulmonary Hypertension . Pulmonary hypertension and kidney problems associated with scleroderma can also affect the heart.

32. Scleroderma Proper diagnosis of Scleroderma is often long and difficult, since it is a rare disease which few doctors are well-versed in, and in the early stages it may resemble many other connective tissue diseases, such as SLE, Polymyositis, and Rheumatoid Arthritis etc …….

36. Scleroderma & Pregnancy Will Pregnancy be possible ? It is possible that patients with Scleroderma can achieve pregnancy although there is increased sub-fertility in such patients. There are conflicting reports about the increased abortion rate.

37. Scleroderma & Pregnancy Pregnancy outcome n=101

38. Scleroderma society

39. Causes of PAH ( WHO classification ) 1- Pulmonary arterial hypertension Primary PAH *Sporadic *Familial (up to 25 %) Secondary PAH *CT diseases, scleroderma,*HIV, *congenital heart diseases, Anorexigens *portopulmonary H,primary PH of newborn 2- Pulmonary venous Hypertension: *Lt Heart disease, *Lt Vent. Dysfunction, pulmonary veno-occlusive diseases. 3- Disorders of the respiratory system: COPD,interstitial lung diseases. 4- Chronic thromboembolic PH: 5- Disorders directly affecting pulmonary vasculature

40. Investigation in PAH Echocardiogram: Respiratory function tests: CXR: VQ scan: HRCT: CT Pulmonary angiogram: Connective Tissue screen: ANF,dsDNA,ANCA,SCL-70, Thrombophilia screen: anticardiolipin antibodies,lupus inhibitor, protein c, protein s, factor V leiden Sleep study Right heart catheterization: for definitive diagnosis mean PAH > 25 mmHg at rest & > 30 mmHg at exercise.

42. symptoms Early stages : breathlessness, palpation, fatigue and a pounding heart. Late stages : ankle oedema and right side congestion, 1JVP, ascites, hepatomegaly. Very late : syncope Echocardiogram : show hypertrophied, dilated or hypokinetic RV, TR, 1PAH Pulmonary function tests Diagnosis

43. Medical therapies for pulmonary arterial hypertension Anticoagulant Ca+ channel blockers Prostacyclin analoguses Endothelin receptor antagonist Phosphodiesterase 5 inhibitors Medical foods Drug class Warfarin Diltizem Amlodipine Nifedipine Prostacyclin Iloprost Beraprost Treprostinil Bosentan Sildenafil L-Arginine Drug 16 16 17-19 14 13 12 10,11 20,21 22 reference 11 11 111-1 11 11 11 1 111-3 1V Keep INR 2.5-4 Oral High dose e.g:Diltizem 900 mg Continues IV Infusion (very short HF) Level of evidence Administration dosage

44. Rheumatology Quiz

45. A 79-year-old woman with Eisenmenger syndrome was admitted to the hospital after a fall-related femoral neck fracture . Following hip surgery , she developed right wrist and hand pain with mottled, ecchymotic skin lesions distal to the site of a prior arterial line. No other lesions or rashes were noted elsewhere on her body. O/E: Active range of motion of the right wrist was limited to 30 degrees of flexion and extension because of pain; however,

46. X Ray: radiographs of the wrist and hand showed no fractures. Laboratory tests: were significant for a slight eosinophilia and negative blood cultures. A continuous wave Doppler examination of the hand was unremarkable. What’s your diagnosis? • Paradoxical embolism • Radial artery dissection • Catheter-related infection • Catheter-associated vascular insufficiency

47. Catheter-associated vascular insufficiency

48. A 55 year old man presents with painful swollen mcp joints. His x rays are shown below

50. The correct answer is D . Gout . The x ray shows large erosions which have eaten away the bone both in and around the joint. The involvement is assymetrical which is typical for gout.

51. A 26 year old woman complains of diffuse swelling and stiffness in the fingers. She admits to Raynaud’s phenomenon since childhood. Blood tests reveal normal FBC, ESR and CRP. Rheumatoid factors are negative . ANA is positive 1:640, centromeric pattern .

53. The correct answer is G . Scleroderma This patient probably has limited Scleroderma on the basis of the history and centromeric pattern of ANA staining. The swelling in the fingers was not limited to the joints, suggesting more generalized soft tissue inflammation as opposed to synovitis.

54. A 35 year old woman presents with a small joint peripheral symmetrical polyarthritis and dry eyes. Blood tests reveal an IgM rheumatoid factor of 856, ESR 72, CRP 13, ANA 1:1280, anti-SSA and anti-SSB positive.

56. The correct answer is E . Primary Sj ö gren's syndrome . Although the patient has a small joint symmetrical polyarthritis and positive rheumatoid factor, the strongly positive ANA and positive anti-SSA and SSB point towards a connective tissue disease. Note the discrepancy between ESR and CRP which is also suggestive of connective tissue disease rather than RA.

58. The correct answer is C . Ankylosing Spondylitis The history suggests inflammatory involvement of the spine and sacroiliac joints, and enthesitis of the plantar fascia . In the absence a history of diarrhoea, urethitis, psoriasis or peripheral joint inflammation, other spondyloarthropathies are less likely .