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CONNECTIVE TISSUE DISEASE Flashcards

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1
Q

Examples of heritable connective tissue disorders?

A

Marian’s syndrome
Ehlers-danlos syndrome
Osteogenesis imperfecta
Alport syndrome

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2
Q

How is marfan’s syndrome inherited?

A

Autosomal dominant

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3
Q

Pathophysiology of Marfan syndrome?

A

Defect in the FBN1 gene on chromosome 15 that codes for the protein Fibrillin-1 which is an important component of connective tissue = abnormal connective tissue

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4
Q

Features of marfan’s syndrome?

A

Tall stature with arm span:height >1.05
Long neck and limbs
High-arched palate
Arachnodactyly (long fingers)
Pes planus
Pes excavatum
Scoliosis >20 degrees
Heart problems - aortic and mitral valve disease
Hypermobile
Lung - repeated pneumothoraces
Eyes - upward lens disclocation, blue sclera and myopia
Dural ectasia

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5
Q

How can marfan’s syndrome affect the heart?

A

It can cause dilatation of the aortic sinuses in 90% -> aortic aneurysm, aortic dissection, aortic regurgitation
Can also cause mitral valve prolapse in 75%

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6
Q

How can marfan’s syndrome affect the lungs?

A

It can cause repeat pneumothoraces

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7
Q

How can marfan’s syndrome affect the eyes?

A

It can cause superotemporal ectopic lentis (upward lens dislocation)
Blue sclera
Myopia

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8
Q

Associated conditions to marfan’s syndrome?

A

Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
Gastro-oesophageal reflux
Mitral valve prolapse with regurgitation
Aortic valve prolapse with regurgitation
Aortic aneurysms

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9
Q

Management of marfan’s syndrome?

A

Minimise BP and HR - lifestyle changes, antihypertensives
PT to strength joints and reduce symptoms from hypermobility
Genetic counselling

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10
Q

Monitoring for marfan’s syndrome?

A

Annual echocardiograms and ophthalmology review - to check for complications

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11
Q

Bigegst risk of marfan’s syndrome?

A

Cardiac conditions e.g. aortic dissection and valve prolapses

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12
Q

Life expectancy of marfan’s syndrome?

A

It’s now nearly 70

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13
Q

What is Ehlers-Danlos syndrome?

A

A group of genetic conditions involving defects in type III collagen which results in the tissue being more elastic than normal = joint hypermobility and increased elasticity of the skin

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14
Q

Types of Ehlers-Danlos syndrome?

A

Hypermobile Ehlers-Danlos syndrome
Classical Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome

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15
Q

Most common and least severe type of Ehlers-Danlos syndrome?

A

Hypermobile Ehlers-Danlos syndrome

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16
Q

Key features of Hypermobile Ehlers-Danlos syndrome?

A

Joint hypermobility -> may cause recurrent joint dislocation, joint pain or clicking
Soft, stretchy skin - fragile, easy bruising
Postural orthostatic tachycardia syndrome can occur alongside due to autonomic dysfunction
May also cause organ prolapses, mitral valve problems or urinary incontinence

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17
Q

Features of classical Ehlers-Danlos syndrome?

A

Stretchy skin that feels smooth and velvety, can split easily especially over forehead/knees/shins/elbows. Can also bruise easily
Severe joint hypermobility, joint pain, easily dislocate
Abnormal wound healing leaving wide scars
Lumps often develop over pressure points e.g. elbows
Prone to hernias, prolapses, mitral regurgitation and aortic root dilatation

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18
Q

Inheritance pattern of Ehlers-Danlos syndrome?

A

All autosomal dominant except for kyphoscoliotic Ehlers-Danlos syndrome which is autosomal recessive

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19
Q

Most severe and dangerous form of x Ehlers-Danlos syndrome?

A

Vascular Ehlers-Danlos syndrome

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20
Q

Features of Ehlers-Danlos syndrome?

A

Thin, translucent skin with visible small blood vessels especially on upper chest and legs
Blood vessel rupture -> serious internal bleeding
GI perforation
Spontaneous pneumothorax

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21
Q

Features of kyphoscoliotic Ehlers-Danlos syndrome?

A

Hypotonia as a neonate and infant
Kyphoscoliosis as they grow
Significant joint hypermobility and join dislocation is common
Soft, velvety skin that is stretchy, bruises easily and scars

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22
Q

What is POTS?

A

Postural orthostatic tachycardia syndrome
When significant tachycardia occurs on sitting or standing and symptoms include presyncope, syncope, headaches, disorientation, nausea and tremor

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23
Q

What is the Beighton score?

A

A score used to assess for hypermobility and to support a diagnosis of ehlers-danlos syndrome

One point is scored for each side of the body, with a maximum score of 9, if the patient can:
Place their palms flat on the floor with their straight legs (scores only 1)
Hyperextend their elbows
Hyperextend their knees
Bend their thumb to touch their forearm
Hyperextend their little finger past 90 degrees

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24
Q

Management of Ehlers-danlos syndrome?

A

No cure
Management focuses on maintaining healthy joints, managing symptoms, supporting ADLs and monitoring for complications

PT, OT, moderating activity, psychology

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25
Complications of ehlers-danlos syndrome?
Hypermobility leads to premature osteoarthritis and joint dislocations Prominent scarring due to fragile skin Arterial rupture Organ rupture Chronic pain and fatigue
26
What is osteogenesis imperfecta also known as?
Brittle bone disease
27
What is osteogenesis imperfecta?
A group of inherited disorders of collagen metabolism resulting in bone fragility and fractures
28
Most common type of osteogenesis imperfecta?
Type 1
29
Inheritance pattern of osteogenesis imperfecta?
AD
30
Pathogenesis of osteogenesis imperfecta?
Decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides = abnormalities in type 1 collagen
31
When does osteogenesis imperfecta present?
In children
32
Presentation of osteogenesis imperfecta?
Fractures following minor trauma Blue sclera (due to thinning of sclera which reveals the coloured vasculature underneath) Deafness from early adulthood (secondary to osteosclerosis) Dental imperfections particularly with formation of teeth Hypermobility Short stature Bone deformities e.g. bowed legs, scoliosis, joint pain
33
Investigtaions for osteogenesis imperfecta?
None are required but you may want to rule out other causes: FBC Vitamin D Bone profile - Adjusted calcium and Phosphate should be normal Parathyroid hormone - should be normal LFTs - ALP normal Xrays and bone density scans may be done - to diagnose fractures and bone deformities Genetic testing can be done but isnt routine
34
Management of osteogenesis imperfecta?
Bisphosphonates to improve bone density Vitamin D supplements PT and OT Mange fractures
35
What is Alports syndrome?
An inherited condition which causes an abnormal glomerular-basement membrane
36
Pathophysiology of Alports syndrome?
Defect in the gene which codes for type 4 collagen resulting in abnormal GBM
37
How is Alports syndrome inherited?
X-linked dominant
38
Who typically gets Alports syndrome?
More severe in males as X-linked Females rarely develop renal failure Presents in childhood usually
39
Features of Alport syndrome?
microscopic haematuria progressive renal failure bilateral sensorineural deafness lenticonus: protrusion of the lens surface into the anterior chamber retinitis pigmentosa
40
Diagnosis of Alports syndrome?
Molecular genetic testing Renal biopsy
41
What is seen on renal biopsy in Alports syndrome?
Longitudinal splitting of the lamina densa of the GBM resulting in a ‘basket weave’ appearance
42
Examples of autoimmune connective tissue disorders?
SLE RA Scleroderma Sjögren’s syndrome Mixed connective tissue disease Myosotis Antiphospholipid syndrome may also be considered it
43
Who does SLE typically affect?
Females 9:1 Afro-Caribbean’s and Asian communities 20-40 year olds
44
Pathophysiology of SLE?
Autoimmune - a type 3 hypersensitivity reaction = immune system dysregulationleading to immune complex formation = immune complex deposition can affect any organ (skin, joints, kidneys, brain etc) Associated with HLA B8, DR2 and DR3
45
Antibodies in SLE?
Anti-nuclear antibodies Anti-dsDNA Anti-sm Others: anti-Ro and anti-La, antiphospholipid antibodies (bear in mind these aren’t specific)
46
Course of disease in SLE?
Relapsing-remitting course with flares of worse symptoms and periods where symptoms settle The result of chronic inflammation can shorten life expectancy
47
Features of SLE?
General - fever, fatigue, mouth ulcers, lymphadenopathy Skin - malar rash that spares nasolabial folds, discoid rash, photosensitivity, raynauds, livedo reticularis or non-scarring Alopecia MSK - arthralgia and non-erosive arthritis CVD - pericarditis and myocarditis Resp - pleurisy and fibrosing alveolitis Renal - proteinuria or glomerulonephritis Neuro - anxiety, depression, psychosis, seizures
48
Investigations for SLE?
Urinalysis - proteinuria FBC - anaemic of chronic disease, low WCC, low Plt Antibodies - ANA, RF, anti-dsDNA, anti-Smith ESR and CRP Complement levels - C3 and C4 Renal biopsy may be done
49
What is used in SLE to look at disease activity, CRP or ESR and why?
ESR As during active disease the CRP may be Normal. If CRP is raised then it may indicate an underlying infection
50
Why are complement levels low during active SLE?
As the formation of complexes leads to consumption of the complements
51
Which antibody has the highest sensitivity for SLE?
ANA - 99% are positive
52
Which antibodies are highly specific for SLE?
Anti-dsDNA - >99% specificity Anti-Smith - >99% specificity
53
Management of SLE?
NSAIDs Sunblock to avoid the malar rash Hydroxychloroquine If internal organ involvement e.g. eyes, kidneys, then consider cyclophosphamide Others: biological therapies and other DMARDs
54
Leading cause of death in SLE?
Cardiovascular disease - chronic inflammation in blood vessels leads to hypertension and CAD
55
Complication sof SLE?
Cardiovascular - hypertension, CAD, pericarditis Infections Anemia Lungs - pleuritic, interstitial lung disease Kidneys - lupus nephritis Neuropsychiatric SLE - optic neuritis, transverse myelitis, psychosis Recurrent miscarriage VTE
56
What is lupus nephritis?
Kidney disease caused by SLE that can progress to end-stage renal disease
57
How are SLE pt monitored?
Urinalysis as regular appointments to rule out proteinuria for lupus nephritis
58
Most common type of lupus nephritis?
Diffuse proliferative glomerulonephritis - most common & most severe form
59
What is discoid lupud erythematous?
A benign autoimmune disorder seen in younger females that can very rarely progress to SLE It’s characterised by follicular keratin plugs = erythematous, raised, scaly rash that may be photosensitivity. On face/neck/ears/scalp Lesions heal with atrophy, scarring and pigmentation
60
Management of discoid lupus erythematosus?
Topical steroids Avoid sun exposure Hydroxychloroquine is second line
61
What is systemic sclerosis?
A condition of unknown aetiology characterised by hardened, sclerotic skin and other connective tissue Aka scleroderma
62
Which gender is systemic sclerosis more common in?
Females
63
What are thw 3 patterns of disease in systemic sclerosis?
Limited cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis Scleroderma
64
What is scleroderma?
Tightening and fibrosis of the skin that may manifest as plaques or linear Most pt with scleroderma have systemic sclerosis but a localised version of scleroderma only affects the skin and no other organs
65
What are the features of limited cutaneous systemic sclerosis?
CREST Calcinosis - mostly seen in fingers Raynaud’s phenomenon - often the first sign Esophageal dysmotility Sclerodactyly Telangiectasia Affects the face and distal limbs mostly
66
Antibodies associated with limited cutaneous systemic sclerosis?
Anti-centromere antibodies
67
Clinical features of diffuse cutaneous systemic sclerosis?
Affects trunk and proximal limbs mostly Has CREST features and affects internal organs. Affects the cardiovadcular system, lungs and kidneys
68
Most common cause of death associated with diffuse cutaneous systemic sclerosis?
Respiratory involvement is in 80% of pt - interstitial lung disease and pulmonary arterial hypertension
69
Antibodies associated with diffuse cutaneous systemic sclerosis?
Anti scl-70 antibodies
70
What is sclerodactyly?
Localized thickening and tightness of the skin of the fingers or toes that yields a characteristic claw-like appearance and spindle shape of the affected digits, and renders them immobile or of limited mobility. Skin can break and ulcerate
71
What is Calcinosis?
Calcium deposits under the skin, most commonly found on the fingertips
72
What is oesophageal dysmotility caused by in systemic sclerosis?
Atrophy and dysfunction of the smooth muscle, and fibrosis of the oesophagus Causes swallowing difficult, chest pain, acid reflux and oesophagitis
73
What is Raynaud’s phenomenon?
When fingertips change colour in response to even mildly cold triggers - caused by vasoconstriction of the vessels supplying the fingers Causes white -> blue -> red
74
What is Raynaud’s disease?
When Raynaud’s phenomenon occurs without an associated systemic disease Idiopathic Makes up nearly 90% of pt with Raynaud’s phenomenon
75
Systemic diseases that can cause Raynaud’s phenomenon?
Systemic sclerosis SLE - less commonly RA
76
Treatment options for Raynaud’s?
Keeping hands warm CCB
77
Antibodies positive in systemic sclerosis?
ANA is positive in most cases Anticentromere antibodies are most associated with limited cutaneous systemic sclerosis Anti-scl-70 antibodies are most associated with diffuse cutaneous systemic sclerosis
78
What test can be done to determine Raynaud’s disease from Raynaud’s phenomenon secondary to systemic sclerosis ?
Nailfold capillaroscopy - magnifies and examines the peripheral capillaries where the skin meets the base of the fingernail Abnormal capillaries, avascular area and micro-haemorrhages suggest systemic sclerosis s
79
Diagnosis of systemic sclerosis?
Clinical features e.g. Resp exam to look for interstitial lung disease or pulmonary hypertension Antibodies Nailfold capillaroscopy
80
Management of systemic sclerosis?
Non-medical : avoid smoking, gently skin stretching to maintain range of motion, regular emollients, avoid cold triggers for raynauds, physio to help maintain healthy joints, OT Manage based on symptoms: Nifedpine for raynauds PPI for acid reflux Analgesia for joint pain Antihypertensives to treat hypertension Etc DMARDs and biological therapies Steroids may be considered but increase risk of renal crisis
81
What is Sjögren’s syndrome?
An autoimmune condition affecting the exocrine glands causing dry mucosal surfaces, notable the lacrimal and salivary glands
82
What are sicca symptoms?
Dry eyes and dry mouth
83
What are the 2 types of Sjögren’s syndrome?
Primary - occurs in isoalation Secondary - usually develops about 10 years after the onset of RA or other CTD
84
Who is Sjögren’s syndrome most common in?
Female f:m 9:1 Middle age Those with CTD e.g. RA
85
What complication is markedly increased risk of in Sjögren’s syndrome?
Lymphoid malignancy - risk increases by 40-60 fold
86
Clinical features of Sjögren’s syndrome?
Keratoconjunctivits sicca - dry eyes Dry mouth Dry vagina Arthralgia Raynaud’s Sensory polyneuropathy Recurrent episodes of parotitis Renal tubular acidosis
87
Investigtaions for Sjögren’s syndrome?
ANA - positive in 70% Anti-Ro - positive in 70% Anti-La - positive in 30% RF - positive in nearly 50% Schirmers test Salivary gland biopsy may be done to confirm the diagnosis but is not usually necessary Ophthalmology assessment Will also have hypergammaglobulinaemia and low C4
88
What is schirmers test?
The Schirmer test involves inserting folded filter paper under the lower eyelid with the end hanging out. Moisture from the eye will travel by diffusion along the filter paper. After 5 minutes, the distance that the moisture travels along the filter paper is measured. In a healthy young adult, 15mm is expected. Less than 10mm is significant = suggests sjogrens
89
Management of Sjögren’s syndrome?
artificial saliva and tears Vaginal lubricants pilocarpine may stimulate saliva and tear production Hydroxychloroquine may be considered in pt with associated joint pain
90
How does pilocarpine help in Sjogren syndrome>
Pilocarpine stimulates muscarinic receptors, stimulating the parasympathetic nerves and promoting salivary and lacrimal gland secretion.
91
Complications of Sjögren’s syndrome?
Complications relate to the exocrine gland dysfunction: Eye problems, such as keratoconjunctivitis sicca and corneal ulcers Oral problems, such as dental cavities and candida infections Vaginal problems, such as candida infection and sexual dysfunction Others: non-hodgkin lymphoma, pneumonia, bronchiectasis, peripheral neuropathy, vascultiis, renal impairment
92
What is autoimmune sialednitis?
Aka Sjögren’s syndrome
93
What is mixed connective tissue disease?
Mixture of signs and symptoms from other CTD e.g. lupus, scleroderma and myositis
94
What is scurvy?
Deifivcnecy in vitamin C that leads to impaired collagen synthesis and disordered connective tissue (as ascorbic acid is a cofactor for enzymes used in the production of proline and lysine)
95
Who gets scurvy?
Those with severe malnutrition Drug and alcohol abuse Those living with poverty with limited access to fruit and vegetables
96
Symptoms and signs of scurvy?
Follicular hyperkeratosis and perifollicular haemorrhage Ecchymosis, easy bruising Poor wound healing Gingivitis with bleeding and receding gums Sjogren's syndrome Arthralgia Oedema Impaired wound healing Generalised symptoms such as weakness, malaise, anorexia and depression
97
What is Peyronie’s disease?
A disease that causes the penis to become curved when its erect due to fibrous plaque formation in the corpus cavernous Mostly affects men >40 Cause isnt really known; May be autoimmune or caused by trauma
98
What is myositis?
Muscle inflammation
99
Pathophysiology of polymyositis?
An inflamamtory disorder caused by T-cell mediated cytotoxic processes directed against muscle fibres May be idiopathic or associated with CTD May be caused by an underlying cancer, making is a paraneoplastic syndrome
100
Who does polymyositis typically affect?
Middle aged females (f:m 3:1)
101
Features of polymyositis?
Gradual onset, symmetrical proximal muscle weakness and tenderness Raynauds Respiratory muscle weakness Interstitial lung disease e.g. fibrosing alveolitis or pneumonia Dysphagia and dysphonia
102
Investigtaions for polymyositis?
Elevated CK Other muscle enzymes elevated - LDH, aldolase, AST, ALT EMG Muscle biopsy Anti-synthetase antibodies: anti-Jo1 antibodies are seen in pattern of disease associated with lung involvement, raynauds and fever
103
Management of polymyositis?
high-dose corticosteroids tapered as symptoms improve azathioprine may be used as a steroid-sparing agent
104
What is dermatomyositis?
an inflammatory disorder causing symmetrical, proximal muscle weakness and characteristic skin lesions
105
What can cause dermatomyositis?
May be idiopathic May be associated with a CTD or underlying malignancy (latter in up to 25%) so screening for cancer is usual performed
106
Which malignancies are most commonly associated with dermatomyositis?
Ovarian Breast Lung
107
Skin features of dermatomyosiits?
photosensitive macular rash over back and shoulder heliotrope rash in the periorbital region Gottron's papules - roughened red papules over extensor surfaces of fingers 'mechanic's hands': extremely dry and scaly hands with linear 'cracks' on the palmar and lateral aspects of the fingers nail fold capillary dilatation
108
Investigations for dermatomyositis?
80% ANA positive 30% have anti-synthetase antibodies e.g. anti-Jo1, anti-Mi-2 and SRP antibodies
109
Presentation of dermatomyositis?
Classic skin features Other features the same as polymyositis e.g. proximal muscle weakness and tendernes, raynauds, resp muscle weakness, interstitial lung disease, dysphagia and dysphonia
110
Causes of raised CK?
Myositis Rhabdomyolysis AKI MI Statins Strenuous exercise
111
Most common antibod associated with myositis?
Anti-jo-1 for polymyositis
112
Management of polymyositis and dermatomyositis?
Corticosteroids
113
Epidemiology for stills disease?
Bifocal 15-25 and 35-46
114
What is adult onset-stills disease?
A rare inflammatory arthritis
115
Presentation of adult onset-stills disease?
Arthralgia Salmon-pink maculopapular rash Pyrexia in late afternoon/early evening in a daily pattern and accompanies a worsening of joint symptoms Lymphadenopathy
116
What diagnostic criteria is used for adult onset-stills disease?
Yamaguchi criteria
117
What is yamaguchi criteria for adult onset-stills disease?
To diagnose adult onset-stills disease you need 4 major criteria or 3 major & 2 minor Major: Fever >39 lasting 1 week at least Arthralgia or arthritis >2 weeks Typical rash Leukocytosis >10,000 with >80% polymorphonuclear cells Minor: Sore throat Recent development of lymphadenopathy Hepato/splenomegaly Abnormal LFTs Negative ANA and RF
118
Management of adult onset-stills disease?
NSAIDs - try for a week before adding steroids Steroids If sympotms persist you can consider methotrexate, IL-1 or anti-TNF
119
What causes antiphospholipid syndrome?
It may occur as a primary disorder or secondary to other conditions e.g. SLE
120
Features of antiphospholipid syndrome?
venous or arterial thrombosis Recurrent miscarriages Livedo reticularis Pre-eclampsia Pulmonary hypertension
121
Investigations for antiphospholipid syndrome?
Antibiotics - anticardiolipin, anti-beta2 glycoprotein I, lupus anticoagulant Thrombocytopenia Prolonged APTT
122
Primary thromboprophylaxis of antiphospholipid syndrome?
Low-dose aspirin
123
Secondary thromboprophylaxis of antiphospholipid syndrome?
After 1 thromboembolic event - Lifelong warfarin After multiple thromboembolic events - consider adding low-dose aspirin
124
INR target for antiphospholipid syndrome?
After 1 thromboembolic event 2-3 After multiple 3-4

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