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systemic sclerosis Flashcards

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1
Q

What is systemic sclerosis?

A

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

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2
Q

How is systemic sclerosis categorized?

A

Systemic sclerosis is categorized into limited SSc and diffuse SSc.

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3
Q

What are the key features of limited systemic sclerosis?

A

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.

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4
Q

What are the key features of diffuse systemic sclerosis?

A

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.

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5
Q

Describe the pathophysiology of systemic sclerosis.

A

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.

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6
Q

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

A

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.

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7
Q

What cardiovascular manifestations can occur in systemic sclerosis?

A

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

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8
Q

What are the respiratory manifestations of systemic sclerosis?

A

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

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9
Q

How can renal involvement manifest in systemic sclerosis?

A

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

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10
Q

What autoantibodies are associated with limited systemic sclerosis?

A

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

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11
Q

Which autoantibodies are associated with diffuse systemic sclerosis?

A

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.

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12
Q

How is systemic sclerosis diagnosed and monitored?

A

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.

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13
Q

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

A

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

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14
Q

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

A

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

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15
Q

How is joint pain managed in systemic sclerosis?

A

Joint pain is managed with analgesia.

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16
Q

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

A

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

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17
Q

What medications are used for GI involvement in systemic sclerosis?

A

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

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18
Q

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

A

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

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19
Q

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

A

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

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20
Q

What is the overall approach to systemic sclerosis management?

A

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

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21
Q

What is systemic sclerosis, and what does it involve?

A

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.

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22
Q

What does the term “scleroderma” translate to?

A

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

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23
Q

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

A

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.

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24
Q

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

A

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

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25
What used to be the former name for limited cutaneous systemic sclerosis?
Limited cutaneous systemic sclerosis used to be called "CREST syndrome."
26
What does CREST stand for in limited cutaneous systemic sclerosis?
CREST stands for Calcinosis, Raynaud's phenomenon, Oesophageal dysmotility, Sclerodactyly, and Telangiectasia.
27
What are the additional features present in diffuse cutaneous systemic sclerosis?
Diffuse cutaneous systemic sclerosis includes CREST features and also affects internal organs, leading to cardiovascular, lung, and kidney problems.
28
How does scleroderma affect the skin's appearance?
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.
29
What is sclerodactyly, and how does it affect the hands?
Sclerodactyly describes skin changes in the hands, with tightening around the joints, restricted range of motion, and loss of fat pads on the fingers.
30
What is telangiectasia, and where is it commonly seen in systemic sclerosis?
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.
31
What does calcinosis refer to, and where is it commonly found in systemic sclerosis?
Calcinosis refers to calcium deposits under the skin, most commonly found on the fingertips in systemic sclerosis.
32
How does oesophageal dysmotility manifest in systemic sclerosis?
Oesophageal dysmotility is caused by atrophy and dysfunction of smooth muscle, leading to swallowing difficulties, chest pain, acid reflux, and oesophagitis.
33
What is the cause of systemic and pulmonary hypertension in systemic sclerosis?
Systemic and pulmonary hypertension in systemic sclerosis is caused by connective tissue dysfunction in the systemic and pulmonary arterial systems.
34
What are the symptoms of pulmonary fibrosis in severe systemic sclerosis?
Pulmonary fibrosis in severe systemic sclerosis presents with a gradual onset of dry cough and shortness of breath.
35
Describe scleroderma renal crisis and its characteristics.
Scleroderma renal crisis is a medical emergency characterized by severe hypertension and renal failure.
36
What are some visual manifestations of scleroderma, and where are they commonly observed?
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.
37
What is Raynaud’s phenomenon, and how does it manifest?
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).
38
What is Raynaud’s disease, and how does it differ from Raynaud’s phenomenon?
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.
39
What is the most important secondary cause of Raynaud’s phenomenon?
Systemic sclerosis is the most important secondary cause of Raynaud’s phenomenon. It is less commonly associated with SLE.
40
What is nailfold capillaroscopy, and how is it used in systemic sclerosis diagnosis?
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.
41
What are the treatment options for Raynaud’s?
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.**
42
Which autoantibodies are positive in most patients with systemic sclerosis?
Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis, although they are non-specific.
43
What do anti-centromere antibodies indicate in systemic sclerosis?
Anti-centromere antibodies are most associated with limited cutaneous systemic sclerosis.
44
What do anti-Scl-70 antibodies indicate in systemic sclerosis?
Anti-Scl-70 antibodies are most associated with diffuse cutaneous systemic sclerosis and more severe disease.
45
What classification criteria can be used for systemic sclerosis diagnosis?
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.
46
What are the options for managing diffuse systemic sclerosis?
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.
47
What are some non-medical management strategies for systemic sclerosis?
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.
48
What are the medical management options for systemic sclerosis symptoms and complications?
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.
49
Which medications may be used for pulmonary hypertension and digital ulcers in systemic sclerosis?
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.
50
When might stem cell transplantation be considered in systemic sclerosis?
Stem cell transplantation may be considered in rapidly progressing severe disease, but it carries significant risks.
51
What is mixed connective tissue disease (MCTD)?
Mixed connective tissue disease is a rare systemic autoimmune disease characterized by overlapping features of at least two connective tissue diseases.
52
What are the initial non-specific clinical features of MCTD?
Initially, non-specific clinical features of MCTD include arthralgia, malaise, myalgia, and low-grade fever.
53
What skin manifestations can occur in MCTD?
Skin manifestations in MCTD include Raynaud's phenomenon and sclerodactyly.
54
How does joint involvement in MCTD compare to SLE and RA?
Joint involvement in MCTD is usually more severe than in SLE, and arthritis with deformities similar to RA can also occur.
55
What muscle-related symptoms are common in MCTD?
Inflammatory myopathy, clinically and histologically similar to polymyositis, is common in MCTD and often manifests as myalgia.
56
What percentage of MCTD patients experience pulmonary involvement, and what are the common pulmonary manifestations?
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.
57
What cardiac manifestation is associated with MCTD?
Pericarditis is a cardiac manifestation associated with MCTD.
58
What percentage of MCTD patients experience renal involvement?
Renal involvement occurs in 15 to 25% of MCTD patients.
59
What laboratory findings may be observed in the blood tests of MCTD patients?
Blood tests may show anemia, leukopenia, hypergammaglobulinemia, and raised inflammatory markers in MCTD patients.
60
Which antibodies are commonly present in MCTD?
Common antibodies in MCTD include anti-RNP, rheumatoid factor, and anti-CCP.
61
What imaging modalities may be used to investigate organ involvement in MCTD?
Imaging may be used to look for organ involvement in MCTD.
62
How is Raynaud's managed in MCTD?
Calcium channel blockers (CCBs) may be helpful for managing Raynaud's in MCTD.
63
What is the recommended approach to managing significant muscle or lung disease in MCTD?
If there is significant muscle or lung disease in MCTD, immunosuppression may be required.
64
How should patients with MCTD be monitored for specific complications?
Patients with MCTD should be monitored for pulmonary hypertension (annual echo) and interstitial lung disease (PFTs).
65
What is Ataxia Telangiectasia?
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.
66
How does the defective ATM gene impact cellular DNA repair?
The defective ATM gene results in the absence of the ATM protein, impairing the repair of cellular DNA damage.
67
What is the primary symptom associated with Ataxia Telangiectasia?
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.
68
What cellular damage is prominent in Ataxia Telangiectasia?
Progressive damage to cells across the body, especially in the cerebellum, is prominent in Ataxia Telangiectasia.
69
How does Ataxia Telangiectasia affect the immune system?
Ataxia Telangiectasia can result in a decrease in T-cells and lowered immunoglobulin levels, leading to a weakened immune response.
70
What is the increased risk associated with Ataxia Telangiectasia?
Individuals with Ataxia Telangiectasia have an increased risk of developing cancers.
71
Which gene is defective in Ataxia Telangiectasia, and what is the role of the protein it encodes?
The defective gene in Ataxia Telangiectasia is ATM, and its encoded protein is responsible for repairing damage to cellular DNA.
72
What is the role of the ATM protein in cellular DNA repair?
The ATM protein plays a crucial role in repairing damage to cellular DNA, maintaining genomic stability.
73
What is the mode of inheritance for Ataxia Telangiectasia?
Ataxia Telangiectasia is inherited in an autosomal recessive manner.
74
Apart from ataxia, what are some other symptoms or manifestations of Ataxia Telangiectasia?
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.
75
What symptoms does Rosa, the 35-year-old woman, present with?
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.
76
What skin changes are observed in Haruki, the 65-year-old man?
Haruki has tight, shiny, smooth skin on his face and the arms below the elbow, with no wrinkles.
77
What are the pulmonary function test results for Rosa and Haruki?
Rosa shows a pattern suggestive of restrictive lung disease in pulmonary function tests, while Haruki's pulmonary function tests are normal.
78
What antibodies are elevated in Rosa's blood tests, and what antibodies are elevated in Haruki's blood tests?
Rosa has increased serum levels of anti-Scl 70 and anti-RNA polymerase III antibodies, while Haruki has increased anti-centromere antibodies.
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?
The term for this disorder is scleroderma.
80
What are the two main types of scleroderma?
The two main types of scleroderma are diffuse cutaneous systemic scleroderma and limited cutaneous systemic scleroderma, which was formerly called CREST syndrome.
81
What are some triggers believed to contribute to the development of scleroderma?
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.
82
What is the initial injury in the pathology of scleroderma, and what does it lead to?
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.
83
What is the term for the buildup of excess connective tissue responsible for the stiffness of the tissue in scleroderma?
The buildup of excess connective tissue is called fibrosis in scleroderma.
84
How does blood vessel damage and fibrosis contribute to tissue damage in scleroderma?
Blood vessel damage and fibrosis reduce blood flow to the tissue, causing ischemic tissue damage in scleroderma.
85
What type of immune cells are activated in scleroderma, and what antibodies do they produce?
B cells are activated in scleroderma, producing antinuclear antibodies (ANA), including anti-Scl 70, anti-RNA polymerase III, and anti-centromere antibodies.
86
Who does scleroderma primarily affect in terms of gender and age?
Scleroderma primarily affects women three times more often than men, especially women over 50 years of age.
87
What are the characteristics and progression of diffuse cutaneous systemic scleroderma?
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.
88
What is sclerodactyly, and how does it affect the hands?
Sclerodactyly is the tightening of the skin around the joints, causing fingers to curl inward, resembling a claw.
89
Describe the symptoms of esophageal involvement in scleroderma.
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.
90
How does lung involvement manifest in scleroderma, and what complications can arise?
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.
91
What is a scleroderma renal crisis, and what are its consequences?
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.
92
What is the term for the dilation of small blood vessels near the surface of the skin or mucous membranes in scleroderma?
The dilation of small blood vessels in scleroderma is known as telangiectasias, also referred to as spider veins.
93
How can chronic damage and fibrosis in the esophagus lead to complications, and what is a potential high-yield consequence?
Chronic damage and fibrosis in the esophagus can cause stricture formation. A high-yield consequence is the development of esophageal adenocarcinoma.
94
What are the typical symptoms of joint involvement in scleroderma?
Joint involvement in scleroderma typically presents with non-specific symptoms such as joint pain, stiffness, and restricted joint mobility.
95
What are the key symptoms of CREST syndrome, a form of limited cutaneous systemic scleroderma?
The key symptoms of CREST syndrome are calcinosis cutis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia.
96
How does the progression and severity of organ involvement in limited cutaneous systemic scleroderma (CREST syndrome) compare to diffuse scleroderma?
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.
97
What antibodies are associated with diffuse scleroderma, and which antibodies are more commonly associated with limited cutaneous systemic scleroderma (CREST syndrome)?
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.
98
How can pulmonary artery hypertension be assessed in scleroderma patients, and what are the diagnostic findings on electrocardiography and chest x-ray?
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.
99
What is a scleroderma renal crisis, and how is it managed?
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.
100
What are the treatment options for scleroderma, and which medications are used to relieve specific symptoms?
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.

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