systemic sclerosis

Question 1

What is systemic sclerosis?

Answer 1

Systemic sclerosis is a systemic connective tissue autoimmune disease characterized by vasculopathy, autoimmunity, and fibrosis.

Question 2

How is systemic sclerosis categorized?

Answer 2

Systemic sclerosis is categorized into limited SSc and diffuse SSc.

Question 3

What are the key features of limited systemic sclerosis?

Answer 3

Limited systemic sclerosis is characterized by acral skin thickening, prolonged Raynaud’s phenomenon before skin symptoms, rare joint involvement, and the presence of anticentromere antibodies.

Question 4

What are the key features of diffuse systemic sclerosis?

Answer 4

Diffuse systemic sclerosis is characterized by truncal and acral skin thickening, simultaneous onset of skin symptoms and Raynaud’s phenomenon, tendon friction rubs, and the presence of anti-Scl-70 and anti-RNA polymerase III antibodies.

Question 5

Describe the pathophysiology of systemic sclerosis.

Answer 5

Systemic sclerosis results from vascular damage within the skin and organs, leading to fibrosis. The exact pathogenesis is not well understood, but genetic predisposition and environmental triggers like silica and organic solvents play a role. Immunopathological findings include T cell infiltration, adhesion molecule expression, cytokine production, and B cell activation.

Question 6

What are the clinical features of systemic sclerosis related to the skin?

Answer 6

Skin features include thickened plaques, loss of normal skin creases, hypo- or hyperpigmentation, sclerodactyly, and calcinosis. Limited SSc involves hands, forearms, feet, legs, head, and neck, while diffuse SSc can occur anywhere.

Question 7

What cardiovascular manifestations can occur in systemic sclerosis?

Answer 7

Cardiovascular manifestations include Raynaud’s phenomenon, pericarditis with effusion, myocardial fibrosis leading to heart failure and arrhythmias, and nailfold changes.

Question 8

What are the respiratory manifestations of systemic sclerosis?

Answer 8

Respiratory manifestations include pulmonary fibrosis and pulmonary arterial hypertension, which can present with right heart failure symptoms like dyspnea, fatigue, and peripheral edema.

Question 9

How can renal involvement manifest in systemic sclerosis?

Answer 9

Renal involvement can lead to non-specific progressive renal dysfunction and scleroderma renal crisis, characterized by rapidly progressive renal failure, hypertension, headaches, and seizures.

Question 10

What autoantibodies are associated with limited systemic sclerosis?

Answer 10

Limited SSc is associated with anticentromere antibodies (ACA), which are linked to an increased risk of pulmonary arterial hypertension.

Question 11

Which autoantibodies are associated with diffuse systemic sclerosis?

Answer 11

Diffuse SSc is associated with anti-Scl-70 (topoisomerase) and anti-RNA polymerase III antibodies, with implications for progressive interstitial lung disease and scleroderma renal crisis.

Question 12

How is systemic sclerosis diagnosed and monitored?

Answer 12

Diagnosis involves assessing blood markers (ANA, specific antibodies), and monitoring includes renal and pulmonary assessments through blood pressure monitoring, renal function tests, urinalysis, spirometry, and echocardiography.

Question 13

What non-medical management strategies are recommended for systemic sclerosis?

Answer 13

Non-medical management includes avoiding smoking, gentle skin stretching, regular emollients, avoiding cold triggers, wearing gloves for Raynaud’s, physiotherapy, and occupational therapy.

Question 14

Name some medical interventions for Raynaud’s phenomenon in systemic sclerosis.

Answer 14

Medical interventions for Raynaud’s include oral vasodilators (calcium channel blockers(NIFEDIPINE), phosphodiesterase inhibitors) and intravenous vasodilators (prostacyclin) in severe cases.

Question 15

How is joint pain managed in systemic sclerosis?

Answer 15

Joint pain is managed with analgesia.

Question 16

What medical interventions are recommended for skin infections in systemic sclerosis?

Answer 16

Antibiotics are recommended for the management of skin infections in systemic sclerosis.

Question 17

What medications are used for GI involvement in systemic sclerosis?

Answer 17

GI involvement is managed with anti-acid medications (PPIs) and pro-motility medications (e.g., metoclopramide).

Question 18

Which immunomodulatory therapies can be used in systemic sclerosis for skin thickening?

Answer 18

Mycophenolate, methotrexate, and cyclophosphamide can be used for the treatment of skin thickening in systemic sclerosis.

Question 19

How are ACE inhibitors utilized in the management of systemic sclerosis?

Answer 19

ACE inhibitors are used to prevent renal crisis in systemic sclerosis.

Question 20

What is the overall approach to systemic sclerosis management?

Answer 20

There is no overall treatment; management is tailored to specific issues, including non-medical strategies and medical interventions based on symptoms and organ involvement.

Question 21

What is systemic sclerosis, and what does it involve?

Answer 21

Systemic sclerosis is an autoimmune connective tissue disease characterized by inflammation and fibrosis of connective tissues, affecting the skin and internal organs. The cause is unclear.

Question 22

What does the term “scleroderma” translate to?

Answer 22

“Scleroderma” translates directly to “the hardening” of the skin.

Question 23

Are the terms “systemic sclerosis” and “scleroderma” interchangeable?

Answer 23

Yes, the terms “systemic sclerosis” and “scleroderma” are often used interchangeably. Most patients with scleroderma have systemic sclerosis, but localized scleroderma only affects the skin.

Question 24

What are the two main patterns of disease in systemic sclerosis?

Answer 24

The two main patterns of disease in systemic sclerosis are limited cutaneous systemic sclerosis and diffuse cutaneous systemic sclerosis.

Question 25

What used to be the former name for limited cutaneous systemic sclerosis?

Answer 25

Limited cutaneous systemic sclerosis used to be called “CREST syndrome.”

Question 26

What does CREST stand for in limited cutaneous systemic sclerosis?

Answer 26

CREST stands for Calcinosis, Raynaud’s phenomenon, Oesophageal dysmotility, Sclerodactyly, and Telangiectasia.

Question 27

What are the additional features present in diffuse cutaneous systemic sclerosis?

Answer 27

Diffuse cutaneous systemic sclerosis includes CREST features and also affects internal organs, leading to cardiovascular, lung, and kidney problems.

Question 28

How does scleroderma affect the skin’s appearance?

Answer 28

Scleroderma results in the hardening of the skin, giving it a shiny, tight appearance without normal skin folds, particularly notable on the hands and face.

Question 29

What is sclerodactyly, and how does it affect the hands?

Answer 29

Sclerodactyly describes skin changes in the hands, with tightening around the joints, restricted range of motion, and loss of fat pads on the fingers.

Question 30

What is telangiectasia, and where is it commonly seen in systemic sclerosis?

Answer 30

Telangiectasia refers to dilated blood vessels in the skin, measuring less than 1mm in diameter. It is commonly seen in systemic sclerosis, especially on the hands and face.

Question 31

What does calcinosis refer to, and where is it commonly found in systemic sclerosis?

Answer 31

Calcinosis refers to calcium deposits under the skin, most commonly found on the fingertips in systemic sclerosis.

Question 32

How does oesophageal dysmotility manifest in systemic sclerosis?

Answer 32

Oesophageal dysmotility is caused by atrophy and dysfunction of smooth muscle, leading to swallowing difficulties, chest pain, acid reflux, and oesophagitis.

Question 33

What is the cause of systemic and pulmonary hypertension in systemic sclerosis?

Answer 33

Systemic and pulmonary hypertension in systemic sclerosis is caused by connective tissue dysfunction in the systemic and pulmonary arterial systems.

Question 34

What are the symptoms of pulmonary fibrosis in severe systemic sclerosis?

Answer 34

Pulmonary fibrosis in severe systemic sclerosis presents with a gradual onset of dry cough and shortness of breath.

Question 35

Describe scleroderma renal crisis and its characteristics.

Answer 35

Scleroderma renal crisis is a medical emergency characterized by severe hypertension and renal failure.

Question 36

What are some visual manifestations of scleroderma, and where are they commonly observed?

Answer 36

Visual manifestations of scleroderma include shiny, tight skin without normal folds, sclerodactyly in the hands, telangiectasia, and calcinosis, commonly observed on the hands and face.

Question 37

What is Raynaud’s phenomenon, and how does it manifest?

Answer 37

Raynaud’s phenomenon is a condition where fingertips change color in response to cold triggers, progressing from white (vasoconstriction) to blue (cyanosis) and then red (reperfusion and hyperaemia).

Question 38

What is Raynaud’s disease, and how does it differ from Raynaud’s phenomenon?

Answer 38

Raynaud’s disease is where Raynaud’s phenomenon occurs without an associated systemic disease. It is idiopathic and comprises 80-90% of patients with Raynaud’s phenomenon.

Question 39

What is the most important secondary cause of Raynaud’s phenomenon?

Answer 39

Systemic sclerosis is the most important secondary cause of Raynaud’s phenomenon. It is less commonly associated with SLE.

Question 40

What is nailfold capillaroscopy, and how is it used in systemic sclerosis diagnosis?

Answer 40

Nailfold capillaroscopy is a technique to magnify and examine peripheral capillaries. Abnormal capillaries, avascular areas, and micro-hemorrhages suggest systemic sclerosis. Patients with Raynaud’s disease have normal nailfold capillaries.

Question 41

What are the treatment options for Raynaud’s?

Answer 41

Treatment options for Raynaud’s include keeping the hands warm, calcium channel blockers (e.g., nifedipine), and specialist drugs like losartan, ACE inhibitors, sildenafil, and fluoxetine. Beta blockers can worsen symptoms.

Question 42

Which autoantibodies are positive in most patients with systemic sclerosis?

Answer 42

Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis, although they are non-specific.

Question 43

What do anti-centromere antibodies indicate in systemic sclerosis?

Answer 43

Anti-centromere antibodies are most associated with limited cutaneous systemic sclerosis.

Question 44

What do anti-Scl-70 antibodies indicate in systemic sclerosis?

Answer 44

Anti-Scl-70 antibodies are most associated with diffuse cutaneous systemic sclerosis and more severe disease.

Question 45

What classification criteria can be used for systemic sclerosis diagnosis?

Answer 45

The American College of Rheumatology / European League Against Rheumatism (ACR/EULAR) classification criteria from 2013 can be used for systemic sclerosis diagnosis, considering clinical features, antibodies, and nailfold capillaroscopy.

Question 46

What are the options for managing diffuse systemic sclerosis?

Answer 46

DMARDs (e.g., methotrexate) and biologic therapies (e.g., rituximab) are options for managing diffuse systemic sclerosis. Steroids may be considered but are associated with an increased risk of scleroderma renal crisis.

Question 47

What are some non-medical management strategies for systemic sclerosis?

Answer 47

Non-medical management involves avoiding smoking, gentle skin stretching, regular emollients, avoiding cold triggers for Raynaud’s, physiotherapy, and occupational therapy for adapting to daily living limitations.

Question 48

What are the medical management options for systemic sclerosis symptoms and complications?

Answer 48

Medical management includes nifedipine for Raynaud’s, proton pump inhibitors for acid reflux, prokinetic medications (metoclopramide) for gastrointestinal symptoms, analgesia for joint pain, antibiotics for skin infections, and antihypertensives (ACE inhibitors) for hypertension and scleroderma renal crisis.

Question 49

Which medications may be used for pulmonary hypertension and digital ulcers in systemic sclerosis?

Answer 49

Endothelin receptor antagonists (e.g., bosentan), sildenafil, and intravenous iloprost may be used for pulmonary hypertension and digital ulcers associated with Raynaud’s in systemic sclerosis.

Question 50

When might stem cell transplantation be considered in systemic sclerosis?

Answer 50

Stem cell transplantation may be considered in rapidly progressing severe disease, but it carries significant risks.

Question 51

What is mixed connective tissue disease (MCTD)?

Answer 51

Mixed connective tissue disease is a rare systemic autoimmune disease characterized by overlapping features of at least two connective tissue diseases.

Question 52

What are the initial non-specific clinical features of MCTD?

Answer 52

Initially, non-specific clinical features of MCTD include arthralgia, malaise, myalgia, and low-grade fever.

Question 53

What skin manifestations can occur in MCTD?

Answer 53

Skin manifestations in MCTD include Raynaud’s phenomenon and sclerodactyly.

Question 54

How does joint involvement in MCTD compare to SLE and RA?

Answer 54

Joint involvement in MCTD is usually more severe than in SLE, and arthritis with deformities similar to RA can also occur.

Question 55

What muscle-related symptoms are common in MCTD?

Answer 55

Inflammatory myopathy, clinically and histologically similar to polymyositis, is common in MCTD and often manifests as myalgia.

Question 56

What percentage of MCTD patients experience pulmonary involvement, and what are the common pulmonary manifestations?

Answer 56

Almost 73% of MCTD patients experience pulmonary involvement. Common manifestations include pleural effusion, pulmonary arterial hypertension, interstitial lung disease (ILD), pulmonary vasculitis, thromboembolic disease, alveolar hemorrhage, infections, and obstructive airway disease.

Question 57

What cardiac manifestation is associated with MCTD?

Answer 57

Pericarditis is a cardiac manifestation associated with MCTD.

Question 58

What percentage of MCTD patients experience renal involvement?

Answer 58

Renal involvement occurs in 15 to 25% of MCTD patients.

Question 59

What laboratory findings may be observed in the blood tests of MCTD patients?

Answer 59

Blood tests may show anemia, leukopenia, hypergammaglobulinemia, and raised inflammatory markers in MCTD patients.

Question 60

Which antibodies are commonly present in MCTD?

Answer 60

Common antibodies in MCTD include anti-RNP, rheumatoid factor, and anti-CCP.

Question 61

What imaging modalities may be used to investigate organ involvement in MCTD?

Answer 61

Imaging may be used to look for organ involvement in MCTD.

Question 62

How is Raynaud’s managed in MCTD?

Answer 62

Calcium channel blockers (CCBs) may be helpful for managing Raynaud’s in MCTD.

Question 63

What is the recommended approach to managing significant muscle or lung disease in MCTD?

Answer 63

If there is significant muscle or lung disease in MCTD, immunosuppression may be required.

Question 64

How should patients with MCTD be monitored for specific complications?

Answer 64

Patients with MCTD should be monitored for pulmonary hypertension (annual echo) and interstitial lung disease (PFTs).

Question 65

What is Ataxia Telangiectasia?

Answer 65

Ataxia Telangiectasia is an autosomal recessive disorder caused by a defective ATM gene, leading to the absence of the ATM protein responsible for repairing cellular DNA damage.

Question 66

How does the defective ATM gene impact cellular DNA repair?

Answer 66

The defective ATM gene results in the absence of the ATM protein, impairing the repair of cellular DNA damage.

Question 67

What is the primary symptom associated with Ataxia Telangiectasia?

Answer 67

The primary symptom of Ataxia Telangiectasia is ataxia, which is the progressive damage to cells, particularly in the cerebellum, leading to coordination problems and unsteadiness.

Question 68

What cellular damage is prominent in Ataxia Telangiectasia?

Answer 68

Progressive damage to cells across the body, especially in the cerebellum, is prominent in Ataxia Telangiectasia.

Question 69

How does Ataxia Telangiectasia affect the immune system?

Answer 69

Ataxia Telangiectasia can result in a decrease in T-cells and lowered immunoglobulin levels, leading to a weakened immune response.

Question 70

What is the increased risk associated with Ataxia Telangiectasia?

Answer 70

Individuals with Ataxia Telangiectasia have an increased risk of developing cancers.

Question 71

Which gene is defective in Ataxia Telangiectasia, and what is the role of the protein it encodes?

Answer 71

The defective gene in Ataxia Telangiectasia is ATM, and its encoded protein is responsible for repairing damage to cellular DNA.

Question 72

What is the role of the ATM protein in cellular DNA repair?

Answer 72

The ATM protein plays a crucial role in repairing damage to cellular DNA, maintaining genomic stability.

Question 73

What is the mode of inheritance for Ataxia Telangiectasia?

Answer 73

Ataxia Telangiectasia is inherited in an autosomal recessive manner.

Question 74

Apart from ataxia, what are some other symptoms or manifestations of Ataxia Telangiectasia?

Answer 74

In addition to ataxia, individuals with Ataxia Telangiectasia may exhibit telangiectasia (small dilated blood vessels near the surface of the skin), immune system deficiencies, and an increased susceptibility to infections.

Question 75

What symptoms does Rosa, the 35-year-old woman, present with?

Answer 75

Rosa presents with puffy hands and feet, stiff and shiny skin on the limbs and trunk with decreased markings, sclerodactyly, Raynaud’s phenomenon, and digital ulceration.

Question 76

What skin changes are observed in Haruki, the 65-year-old man?

Answer 76

Haruki has tight, shiny, smooth skin on his face and the arms below the elbow, with no wrinkles.

Question 77

What are the pulmonary function test results for Rosa and Haruki?

Answer 77

Rosa shows a pattern suggestive of restrictive lung disease in pulmonary function tests, while Haruki’s pulmonary function tests are normal.

Question 78

What antibodies are elevated in Rosa’s blood tests, and what antibodies are elevated in Haruki’s blood tests?

Answer 78

Rosa has increased serum levels of anti-Scl 70 and anti-RNA polymerase III antibodies, while Haruki has increased anti-centromere antibodies.

Question 79

What is the term for the rare autoimmune disorder where normal tissue is replaced by thick, dense collagen, affecting the skin, blood vessels, and internal organs?

Answer 79

The term for this disorder is scleroderma.

Question 80

What are the two main types of scleroderma?

Answer 80

The two main types of scleroderma are diffuse cutaneous systemic scleroderma and limited cutaneous systemic scleroderma, which was formerly called CREST syndrome.

Question 81

What are some triggers believed to contribute to the development of scleroderma?

Answer 81

Triggers for scleroderma include viral infections (cytomegalovirus and parvovirus B19), exposure to silica dust, organic solvents, vinyl chloride, and certain medications like cocaine, bleomycin, and pentazocine.

Question 82

What is the initial injury in the pathology of scleroderma, and what does it lead to?

Answer 82

Scleroderma usually starts with an injury to endothelial cells, leading to non-inflammatory vasculitis. This causes the expression of adhesion molecules and subsequent migration of T cells, which release cytokines, attract immune cells, and activate fibroblasts to produce and deposit collagen.

Question 83

What is the term for the buildup of excess connective tissue responsible for the stiffness of the tissue in scleroderma?

Answer 83

The buildup of excess connective tissue is called fibrosis in scleroderma.

Question 84

How does blood vessel damage and fibrosis contribute to tissue damage in scleroderma?

Answer 84

Blood vessel damage and fibrosis reduce blood flow to the tissue, causing ischemic tissue damage in scleroderma.

Question 85

What type of immune cells are activated in scleroderma, and what antibodies do they produce?

Answer 85

B cells are activated in scleroderma, producing antinuclear antibodies (ANA), including anti-Scl 70, anti-RNA polymerase III, and anti-centromere antibodies.

Question 86

Who does scleroderma primarily affect in terms of gender and age?

Answer 86

Scleroderma primarily affects women three times more often than men, especially women over 50 years of age.

Question 87

What are the characteristics and progression of diffuse cutaneous systemic scleroderma?

Answer 87

Diffuse cutaneous systemic scleroderma is rapidly progressive, with skin lesions starting in the fingers and progressing up the arms to the shoulders, neck, and face. The affected skin is initially swollen and puffy, later becoming tight, stiff, shiny, and smooth with no wrinkles.

Question 88

What is sclerodactyly, and how does it affect the hands?

Answer 88

Sclerodactyly is the tightening of the skin around the joints, causing fingers to curl inward, resembling a claw.

Question 89

Describe the symptoms of esophageal involvement in scleroderma.

Answer 89

Esophageal involvement in scleroderma can lead to dysmotility and incompetence of the lower esophageal sphincter, resulting in gastroesophageal reflux disease (GERD) and, potentially, Barrett’s esophagus.

Question 90

How does lung involvement manifest in scleroderma, and what complications can arise?

Answer 90

Lung involvement in scleroderma can lead to pulmonary arterial hypertension and pulmonary fibrosis, presenting with symptoms such as restricted inhalation and coughing. Complications include hypertrophy of the right ventricle and heart failure.

Question 91

What is a scleroderma renal crisis, and what are its consequences?

Answer 91

A scleroderma renal crisis is a severe and rapid form of kidney involvement, where damaged blood vessels trigger thrombosis, causing blockage in capillaries. This leads to acute kidney injury and severe hypertension.

Question 92

What is the term for the dilation of small blood vessels near the surface of the skin or mucous membranes in scleroderma?

Answer 92

The dilation of small blood vessels in scleroderma is known as telangiectasias, also referred to as spider veins.

Question 93

How can chronic damage and fibrosis in the esophagus lead to complications, and what is a potential high-yield consequence?

Answer 93

Chronic damage and fibrosis in the esophagus can cause stricture formation. A high-yield consequence is the development of esophageal adenocarcinoma.

Question 94

What are the typical symptoms of joint involvement in scleroderma?

Answer 94

Joint involvement in scleroderma typically presents with non-specific symptoms such as joint pain, stiffness, and restricted joint mobility.

Question 95

What are the key symptoms of CREST syndrome, a form of limited cutaneous systemic scleroderma?

Answer 95

The key symptoms of CREST syndrome are calcinosis cutis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia.

Question 96

How does the progression and severity of organ involvement in limited cutaneous systemic scleroderma (CREST syndrome) compare to diffuse scleroderma?

Answer 96

In limited cutaneous systemic scleroderma (CREST syndrome), the progression is slower, and the initial stages show no sign of internal organ involvement. Even in later stages, the damage to organs tends to be less severe compared to diffuse scleroderma.

Question 97

What antibodies are associated with diffuse scleroderma, and which antibodies are more commonly associated with limited cutaneous systemic scleroderma (CREST syndrome)?

Answer 97

Diffuse scleroderma is associated with anti-Scl-70 and anti-RNA polymerase III antibodies. Limited cutaneous systemic scleroderma (CREST syndrome) is more commonly associated with anticentromere antibodies.

Question 98

How can pulmonary artery hypertension be assessed in scleroderma patients, and what are the diagnostic findings on electrocardiography and chest x-ray?

Answer 98

Pulmonary artery hypertension in scleroderma can be assessed through electrocardiography, which shows right ventricular hypertrophy and right axis deviation, and chest x-ray, which can reveal right ventricular enlargement, a prominent central pulmonary artery, or peripheral hypervascularity.

Question 99

What is a scleroderma renal crisis, and how is it managed?

Answer 99

A scleroderma renal crisis is a severe and rapid form of kidney involvement. It is managed with strict blood pressure monitoring. If there is a sudden increase in blood pressure, indicating a scleroderma renal crisis, ACE inhibitors like captopril may be needed to control blood pressure. Additional therapies include calcium-channel blockers, diuretics, and alpha-blockers if blood pressure control remains suboptimal.

Question 100

What are the treatment options for scleroderma, and which medications are used to relieve specific symptoms?

Answer 100

Treatment for scleroderma includes immunosuppressants like glucocorticoids to slow down the disease. Medications to relieve symptoms include proton pump inhibitors for gastroesophageal reflux, calcium channel blockers for Raynaud’s phenomenon, non-steroidal anti-inflammatory medication for joint pain, ACE inhibitors for hypertension, and oral anticoagulants or vasodilators for pulmonary arterial hypertension.