CONNECTIVE TISSUES AND AUTO-IMMUNE DISEASES Flashcards
1
Q
EHLERS-DANLOS SYNDROME - DEFINITION
A
- Elhers-Danlos syndrome is a group of inherited conditions that affect connective tissues that support organs and other tissues throughout the body
- These tissues include
o Cartilage
o Bone
o Fat
o Blood - Elhers-Danlos syndrome is classified into 13 types based on their most notable features and the parts of the body where symptoms appear
2
Q
EHLERS-DANLOS SYNDROME - TYPES
A
- There are 13 types of EDS, most of which are rare
- Hypermobile EDS is most common
- Classical EDS
- Vascular EDS
- Kyphoscoliotic EDS
3
Q
EHLERS-DANLOS SYNDROME - CAUSE
A
- A defect in collagen (proteins that add flexibility and strength to connective tissue) causes Ehlers-Danlos syndrome
- People with the disorder have a faulty gene that leads to weak collagen or not enough normal collagen in their tissues
- These defects can harm the connective tissues ability to support muscles, organs and other tissues
4
Q
EHLERS-DANLOS SYNDROME - POPULATION AFFECTED
A
- Anyone can be affected by EDS
- You are born with this condition
5
Q
EHLERS-DANLOS SYNDROME - RISK FACTORS
A
- There are no specific risk factors for EDS because it is genetic
6
Q
EHLERS-DANLOS SYNDROME - CLINICAL PRESENTATION - COMMON S&S
A
- Each type of Elhers-Danlos syndrome has its own symptoms
- The most common type of the condition is Ehlers-Danlos hypermobility, or hypermobile EDS
- Hypermobile joints
- Unstable joints
- Soft skin that is thinner and stretches more than normal
- Excessive bruising
7
Q
EHLERS-DANLOS SYNDROME - CLINICAL PRESENTATION - HYPERMOBILE EDS
A
o Joint hypermobility
o Loose, unstable joints that dislocate easily
o Joint pain and clicking joints
o Extreme tiredness
o Skin that bruises easily
o Digestive problems, such as heartburn and constipation
o Dizziness and an increased heart rate after standing up
o Problems with internal organs, such as mitral valve problems or organ prolapse
o Problems with bladder control
8
Q
EHLERS-DANLOS SYNDROME - CLINICAL PRESENTATION - CLASSICAL EDS
A
o Affects the skin more
o Joint hypermobility
o Loose, unstable joints that dislocate easily
o Stretch skin
o Fragile skin that can split easily, especially over the forehead, knees, shins and elbows
o Smooth, velvety skin that bruises easily
o Wounds that are slow to heal and leave wide scars
o Hernias and organ prolapse
9
Q
EHLERS-DANLOS SYNDROME - CLINICAL PRESENTATION - VASCULAR EDS
A
o Rare type and is considered to be the most serious
o It affects the blood vessels and internal organs, which can cause them to split open
o Skin that bruises very easily
o Thin skin with visible small blood vessels, particularly on the upper chest and legs
o Fragile blood vessels that can bulge or tear, resulting in serious internal bleeding
o A risk of organ problems, such as the bowel tearing, the womb tearing (in late pregnancy) and partial collapse of the lung
o Hypermobile fingers and toes
o Unusual facial features – thin nose and lips, large eyes and small earlobes
o Varicose veins
o Delayed wound healing
10
Q
EHLERS-DANLOS SYNDROME - CLINICAL PRESENTATION - KYPHOSCOLIOTIC EDS
A
o Curvature of the spine – starts in early childhood and gets worse in teenage years
o Joint hypermobility
o Loose, unstable joints that dislocate easily
o Weak muscle tone from childhood (hypotonia) – this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse
o Fragile eyes that can easily be damaged
o Soft, velvety skin that is stretchy, bruises easily and scars
11
Q
EHLERS-DANLOS SYNDROME - DIAGNOSIS
A
- Genetic testing
- Biopsy
o Removal of a sample of skin and examine it under a microscope - Physical exam
- Imaging
12
Q
EHLERS-DANLOS SYNDROME - TREATMENT
A
- Treatment aims to prevent dangerous complications
- Can also help to protect the joints, skin and other tissues from injuries
- To protect the skin
o Sunscreen
o Mild soaps
o Vitamin C supplements - Physical therapy to strengthen the muscles supporting the joints
- Some people may need medications to help keep blood pressure low and stable
13
Q
EHLERS-DANLOS SYNDROME - PREVENTION
A
- You cannot prevent this because it is genetic
- Some things people with EDS can do to prevent injury
o Strenuous, heavy lifting
o High-impact exercise where the body pounds the ground
o Contact sports
14
Q
EHLERS-DANLOS SYNDROME - PROGNOSIS
A
- The outlook depends on the type of the condition and the individuals symptoms
- Most forms of the condition do not affect life expectancy
15
Q
MARFAN’S SYNDROME - DEFINITION
A
16
Q
MARFAN’S SYNDROME - CAUSE
A
- A defect in the gene that encodes the structure of fibrillin and the elastic fibres, which are a major component of connective tissue, is what causes Marfan’s syndrome
o Fibrillin-1 or FBN-1 - In most cases it is inherited
- It is autosomal dominant, so it occurs equally in men and women
- People who have Marfan’s syndrome have a 50% chance of passing along the disorder to each of their children
- In 25% of cases, a new gene defect occurs due to an unknown cause
- Marfan’s syndrome is present at birth but patients may not be diagnosed until they are a teen or young adult
17
Q
MARFAN’S SYNDROME - POPULATION AFFECTED
A
- Any race and any gender with a parent with the syndrome
18
Q
MARFAN’S SYNDROME - RISK FACTORS
A
- Affects men and women equally and occurs among all races and ethnic groups
- Greatest risk is having a parent with the disorder
19
Q
MARFAN’S SYNDROME - CLINICAL PRESENTATION - PHYSICAL APPEARANCE
A
o A long, narrow face
o Tall and thin body build
o Arms, legs, fingers and toes that may seem too long for the rest of the body
o Curved spine
Scoliosis affects 60% of people with Marfan’s syndrome
o Sternum that may be stuck out ot be indented
o Joints that are weak and easily become dislocated
o Flat feet
20
Q
MARFAN’S SYNDROME - CLINICAL PRESENTATION - DENTAL ISSUES
A
o Crowded teeth
o Narrower, higher than normal arched palate
21
Q
MARFAN’S SYNDROME - CLINICAL PRESENTATION - EYE PROBLEMS
A
o More than half of people with Marfan’s syndrome have eye problems
o Near-sightedness
o Lens subluxation
o Cataracts
o Difference in the shape of the eye
o Retinal detachment
o Glaucoma
22
Q
MARFAN’S SYNDROME - CLINICAL PRESENTATION - HEART AND BLOOD VESSEL PROBLEMS
A
o About 90% of people with Marfan syndrome develop changes in there heart and blood vessels
o Aortic aneurysm
o Aortic dissection
o Heart valve problems
o Enlarged heart
o Abnormal heart rhythm
o Brain aneurysms
23
Q
MARFAN’S SYNDROME - CLINICAL PRESENTATION - LUNG CHANGES
A
o Asthma
o Emphysema
o Chronic obstructive pulmonary disease (COPD)
o Bronchitis
o Pneumonia
o Collapsed lung
24
Q
MARFAN’S SYNDROME - DIAGNOSIS
A
- Tests to evaluate changes in the heart, blood vessels and heart rhythm problems
o Chest x-ray to look at the hearts border
o Electrocardiogram (ECG)
o Echocardiogram
o Transoesophageal echo (TEE)
o MRI
o CT scan - Blood test to look for changes in the FBN-1 gene
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MARFAN’S SYNDROME - TREATMENT
- Treatment is specific to the health problems experienced
- Medications
o Medications are not used to treat Marfan syndrome but they are used to prevent or control complications
o Beta blockers
o Angiotensin receptor blockers
- Surgery
o The goal of surgery is to prevent the aorta from dissecting or rupturing and to treat valve problems
o Decisions about surgery are based on
Size of the aorta
Expected normal size of the aorta
Rate of aortic growth
Age, height and sex
Family history of aortic dissection
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MARFAN’S SYNDROME - PREVENTION
- Marfan’s syndrome cannot be prevented as it is genetic
27
MARFAN’S SYNDROME - PROGNOSIS
- In the past life expectancy for someone with Marfan syndrome was 32 years
- Now, many people can live past 72
- Diagnosis at a young age is best because the disease can progress and pose many risks
28
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - DEFINITION
- Lupus is a chronic autoimmune disease that can cause inflammation and pain throughout the body
- When you have an autoimmune disease, the body fights itself
- Someone with lupus may experience joint pain, skin sensitivities and rashes and issues with internal organs
29
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - CAUSE
- Cause is currently unknown
- Exact cause isn’t known but there are factors that play into the condition
- Hormonal changes
o Its thought that hormones like oestrogen can cause lupus because it is often seen in women of reproductive years when oestrogen levels are higher
- Environmental factors
o Amount of sunlight
o Medications you take
o Viruses you are exposed to
o Stress
o History of smoking may also be relevant
- Family history
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SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - POPULATION AFFECTED
Women of reproductive age
31
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - RISK FACTORS
- Sex – females much more affected than men
o 90% of diagnosed cases are women of reproductive age
- Age
o Usually diagnosed between the ages of 15 and 44
- Certain ethnicities
o African
o Hispanic
o Asian
o Native American
- Family history
- Having another autoimmune disease
32
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - CLINICAL PRESENTATION
- Wide variety of symptoms
- Severity of symptoms can change overtime
- Sometimes symptoms may barely be present (remission) and other times there can be a flare-up
- Symptoms include
o Joint pain
o Muscle pain
o Rashes
o Fever
o Sensitivity to sunlight
o Hair loss
o Mouth sores
o Dry eyes
o Fatigue
o Chest pain
o Stomach pain
o Shortness of breath
o Swollen glands
o Headaches
o Confusion
o Depression
o Issues with the kidneys, heart or lungs
o Seizures
o Blood clots
o Anaemia
o Raynaud’s syndrome
33
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - DIAGNOSIS
- Diagnosis for lupus is long and difficult
- Lab tests
o Low blood cell counts
o Anaemia
o Any other abnormalities
- Antinuclear antibody (ANA) test
o Test looks for antibodies – proteins in the body that defend against disease
o People with lupus usually test positive
34
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - TREATMENT
- Chronic condition, currently with no cure
- Will need to be managed regularly
- Treatment depends on
o The symptoms and complications you are experiencing
o Severity of the case
o Age
o The type of medications the pt may be taking
o General health
o Medical history
- Common medications that can be used to treat lupus
o Corticosteroids
Prednisone
Creams can be directly applied to rashes
o Hydroxychloroquine
Used to treat lupus related problems such as skin and joint disease
o Azathioprine
Used to treat more serious features of lupus
o Methotrexate, cyclophosphamide, mycophenolate mofetil
Chemotherapy drugs to help suppress the immune system
o Belimumab, Rituximab
Monoclonal antibody that reduces the activity of white blood cells
35
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - PREVENTION
- Lupus is not preventable
- People can take steps to manage their disease and prevent or minimise lupus flares
36
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) - PROGNOSIS
- No cure for lupus
- Treatment is focused on managing symptoms and limiting amount of damage the disease does to the body
37
SARCOIDOSIS - DEFINITION
- Sarcoidosis is a condition that causes the immune system to overreact and make lumps or nodules called granulomas
- Depending on size and location, granulomas can cause mild to severe symptoms or no symptoms at all
- In some cases they can turn into fibrosis, causing permeant lung scarring
38
SARCOIDOSIS - WHAT IS A GRANULOMA
- A granuloma is an area of inflammation caused by your immune system
- It is made up of a cluster of white blood cells that have been “walled off” from the rest of the body to try to protect you from something the immune system thought was harmful
- Granulomas are surrounded by fibrous (dense) tissue which makes them feel hard and lumpy
39
SARCOIDOSIS - CAUSE
- Exact cause is unknown
- Combo of genetic and environmental factors
- Certain people are more likely to have their immune system overreact to certain triggers (antigens) like bacteria and viruses
- It is not considered an autoimmune disorder
- You cannot predict who will get it because it involves a combo of potentially unknown factors
40
SARCOIDOSIS - POPULATION AFFECTED
- Black females aged between 25 and 40
41
SARCOIDOSIS - RISK FACTORS
- Race
o More common in black people than white people
- Age
o Often diagnosed between 25 and 40
- Sex
o Affects females slightly more than males
42
SARCOIDOSIS - CLINICAL PRESENTATION - GENERAL SYMPTOMS
- Symptoms depend on where in the body the granulomas form
- Most people gave lung problems
- People can also have symptoms in the skin, eyes, joints and almost anywhere else in the body
- May also have general feelings of unwell or no symptoms at all
- General symptoms
o Fever
o Fatigue
o Joint pain
o Muscle aches or weakness
o Night sweats
o Swollen lymph nodes
o Unexplained weight loss
o Kidney stones
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SARCOIDOSIS - CLINICAL PRESENTATION - LUNGS
o Cough
o Shortness of breath
o Chest pain
o Wheezing
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SARCOIDOSIS - CLINICAL PRESENTATION - EYE
o Optic neuritis (blurred or loss of vision)
o Eye pain
o Uveitis or conjunctivitis (red or swollen eye)
o Sensitivity to light
45
SARCOIDOSIS - CLINICAL PRESENTATION - SKIN
o Growths under skin around scars or tattoos
o Light or dark patches of skin
o Raised, reddish-purple sores or rash across the nose and cheeks (lupus pernio)
o Red, tender bumps on the shins (erythema nodosum)
46
SARCOIDOSIS - CLINICAL PRESENTATION - HEART
o Chest pain
o Fluttering heartbeat (palpitations)
o Irregular heartbeat (arrhythmia)
o Heart failure
o Shortness of breath
47
SARCOIDOSIS - CLINICAL PRESENTATION - NERVOUS SYSTEM
o Increased thirst or amounts of pee (diabetes insipidus)
o Weak or paralyzed facial muscles (Bell’s palsy)
o Headaches
o Seizures
48
SARCOIDOSIS - STAGES OF PULMONARY SARCOIDOSIS
- You are not expected to move through each stage
- The stage is not indicative of severity of symptoms
- Based on the lungs appearance on an x-ray and mostly describe where the granulomas are located
- Stage 0 – x-rays don’t show any pulmonary sarcoidosis. Lungs and lymph nodes appear normal on an x-ray
- Stage 1 – granulomas in the lymph nodes only
- Stage 2 – granulomas in the lymph nodes and lungs
- Stage 3 – granulomas in the lungs only
- Stage 4 – x-rays show pulmonary fibrosis, or permanent scarring of the lungs
49
SARCOIDOSIS - DIAGNOSIS
- Diagnosed with a combo of a physical exam, imaging and biopsy of suspected granulomas
- Imaging tests
o MRI
o CT scan
- Biopsies
o Can be done in many different ways
o Some of these biopsies can be non or minimally invasive
o Endobronchial ultrasound-guided transbronchial fine needle aspiration (EBUS – TBNA)
o Bronchoscopic transbronchial biopsy
o Mediastinoscopy
- Other tests include
o Pulmonary function tests
o Lab tests
o Electrocardiogram (ECG)
o Nuclear imaging (PET scan)
o Purified protein derivative
o Slip-lamp examination
50
SARCOIDOSIS - TREATMENT
- No specific cure
- Often goes away on its own
- Treatment is usually to manage symptoms and prevent organ damage
- Treated with medications that modify or suppress the immune system
- Medications
o Corticosteroids
o Immunosuppressants
o Anti – TNF – alpha antibodies
o NSAIDs
51
SARCOIDOSIS - PREVENTION
- No way to prevent it because the cause is unknown
- Taking medications as prescribed can help reduce the risk of organ damage
52
SARCOIDOSIS - PROGNOSIS
- Severity of the condition is different for everyone
- For most people it is a temporary condition and goes away without treatment
- For others it is a chronic illness that causes permanent damage
- 2/3 of people will eventually be disease free in 2 – 3 years
53
VASCULITIS - DEFINITION
- Vasculitis is the inflammation of the body’s blood vessels
- Vasculitis can affect very small blood vessels (capillaries), medium-size blood vessels or large blood vessels, such as the aorta
- When inflamed, the blood vessels may become weakened and stretch in size, which can lead to aneurysms
- The vessels also may become so thin that they rupture resulting in bleeding into the tissue
- Vasculitis can also cause blood vessel narrowing to the point of closing off entirely (occlusion)
- If blood flow in a vessel with vasculitis is reduced or stopped, the tissues that receive blood from that vessel become injured and begin to die
54
VASCULITIS - TYPES
- Behcet’s disease
- Buerger’s disease
- Churg-Strauss syndrome
- Cryoglobulinemia
- Giant cell arteritis
- Granulomatosis with polyangiitis
- Henoch-Schonlein purpura
- Kawasaki disease
- Takayasu’s arteritis
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VASCULITIS - CAUSE
- In most cases, the exact cause is unknown
- It is clear that the immune system plays a big role
- The immune system can sometimes become overactive and end up attacking parts of the body
- In most cases, something causes an immune or allergic reaction in the blood vessel walls
o Infections – hepatitis B, hepatitis C
o Blood cancers
o Immune diseases – rheumatoid arthritis, lupus, scleroderma
- Sometimes certain medications or illnesses can act as antigens and start this process
56
VASCULITIS - POPULATION AFFECTED
- Women over 50
57
VASCULITIS - RISK FACTORS
- Age
o Depends on type
o Giant cell arteritis occurs before the age of 50
o Kawasaki disease is most common in children under 5
- Family history
- Lifestyle choices
o Using cocaine
o Smoking
- Medications
- Infections
- Immune disorders
- Sex
o Depends on type
o Giant cell arteritis is more common in women
o Buerger’s disease is more common in men
58
VASCULITIS - CLINICAL PRESENTATION
- Skin rashes
- Fatigue
- Weakness
- Fever
- Joint pains
- Abdominal pains
- Kidney problems (dark or bloody urine)
- Nerve problems (numbness, weakness and pain)
- Cough and/or shortness of breath
- Additional symptoms can occur depending on the area of the body that is affected by vasculitis
59
VASCULITIS - DIAGNOSIS
- Diagnosis is based on a persons medical history, current symptoms, complete physical examination and the results of specialised lab tests
- Blood tests
o Anaemia
o High white blood cell count
o High platelet count
o Signs of kidney or liver problems
- Additional tests may include
o X-ray
o Tissue biopsies
o Blood vessel and heart scans
60
VASCULITIS - TREATMENT
- Treatment depends on the specific type of vasculitis and the areas/organs that are involves
- Corticosteroids – prednisone
- For some serious types, other medications that suppress the immune system are also used
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VASCULITIS - PREVENTION
- Some types of vasculitis cannot be prevented as they are caused by autoimmune disorders
- Some types can be prevented from flaring-up
- Medicines may be used to reduce symptoms of vasculitis
o Anticlotting medicines
o Beta blockers
o Statins
- Lifestyle changes
o Adopt a heart-healthy lifestyle
o Avoid illegal drugs
o Quit smoking and tobacco
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VASCULITIS - PROGNOSIS
- Vasculitis is rarely fatal
- Some mild cases may cause damage to organs or discomfort but they are not life threatening
- But in severe cases where it is not diagnosed early and is not treated correctly, it can be fatal
63
VASCULITIS - CHURG-STRAUSS SYNDROME
Churg-Strauss syndrome is a disorder marked by blood vessel inflammation. The inflammation restricts the blood flow to organs and tissues. Symptoms vary a lot from person to person but almost everyone with the condition has asthma, chronic sinusitis and an elevated white blood cell count. The cause is largely unknown. Diagnosis includes blood tests, imaging tests and biopsy of affected tissue. Without treatment the disease can be fatal and there is no cure but medications can help manage symptoms, these include corticosteroids and other immunosuppressant drugs.
64
VASCULITIS - RHEUMATOID VASCULITIS
Rheumatoid vasculitis is a serious complication of rheumatoid arthritis that inflames the blood vessels. It occurs most often in people who have suffered for at least 10 years. They have many joints with pain and swelling, rheumatoid nodules and high concentrations of rheumatoid factor in their blood; sufferers may also have an enlarged spleen and chronic low white blood cell count. The cause is not known. Symptoms can range from small pits in the fingertips, painful rash often on the legs to a loss of sensation and numbness and tingling in the hands or feet. Treatment depends on the size of the blood vessel that is affected. Mild symptoms can be treated with pain control and local protection, drugs that treat rheumatoid arthritis can also be started.
64
VASCULITIS - RHEUMATOID VASCULITIS
Rheumatoid vasculitis is a serious complication of rheumatoid arthritis that inflames the blood vessels. It occurs most often in people who have suffered for at least 10 years. They have many joints with pain and swelling, rheumatoid nodules and high concentrations of rheumatoid factor in their blood; sufferers may also have an enlarged spleen and chronic low white blood cell count. The cause is not known. Symptoms can range from small pits in the fingertips, painful rash often on the legs to a loss of sensation and numbness and tingling in the hands or feet. Treatment depends on the size of the blood vessel that is affected. Mild symptoms can be treated with pain control and local protection, drugs that treat rheumatoid arthritis can also be started.
65
VASCULITIS - BUERGER’S DISEASE
Buerger’s disease is a rare disease of the arteries and veins in the arms and legs that occurs when blood vessels become blocked, reducing blood flow. Overtime the lack of blood flow damages the skin tissue which can lead to gangrene. People who develop Buerger’s disease almost always smoke cigarettes or use another form of tobacco. Symptoms include tingling or numbness in the fingers or toes, changes in skin colour in the hands and feet, Raynaud’s disease, pain in the feet when walking. The exact cause is unknown but it is strongly linked to tobacco use. Some risk factors include being male and being younger than 45. Tests include blood tests, examination of the arteries in the hands and feet, a CT or MRI scan of the blood vessels and an angiogram of the hands and feet. Quitting all forms of tobacco is the only way to stop Buerger’s, blood pressure medication may also be used to improve blood flow.
66
VASCULITIS - BECHET’S DISEASE
Behcet’s disease is a rare disorder that causes blood vessel inflammation throughout the body. Areas commonly affected are the mouth, skin, genitals, eyes, joints, blood vessels, digestive system and brain. Symptoms vary widely from person to person as they depend on which part of the body is affected. Behcet’s is an autoimmune disorder so factors that increase the risk include age, where you live, being male and your genetics. There are no tests to specifically diagnose this so having mouth sores that have recurred at least 3 times in the last 12 months as well as 2 of the following; recurring genital sores, eye inflammation or skin sores are curcial for diagnosis
67
VASCULITIS - KAWASAKI DISEASE
Kawasaki disease affects children and it causes inflammation in children in the walls of small to medium-sized blood vessels. Symptoms include a fever of 39C for 5 or more days with at least four of the following symptoms; a rash on the main body or genital area, enlarged lymph nodes in the neck, very red eyes, red and dry cracked lips a red swollen tongue and red palms of hands and soles of the feet. There is no known cause but people who are most affected are young boys aged over 5. There is no specific test to diagnose so diagnosis includes ruling out other diseases with a similar presentation. Treatment included gamma globulin and aspirin.
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VASCULITIS - GRANULOMATOSIS
Granulomatosis is an uncommon disorder that causes inflammation of the blood vessels in the nose, sinuses, throat, lungs and kidneys, which slows blood flow to these organs. The first warning signs usually involve the sinuses throat or lungs. Symptoms include sinus infections, nose bleeds, fever, fatigue, joint pain, numbness in limbs, fingers or toes, weight loss, skin sores, bruising or rash among other things. The cause isn’t known and it can occur at any age but is most common in those aged between 40 and 65. Diagnosis involves blood tests, urine tests, imaging tests and biopsy. Treatments include corticosteroids and immunosuppressants.
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SYSTEMIC SCLEROSIS - DEFINITION
- A group of rare diseases that involve the hardening and tightening of the skin
- May also cause problems in the blood vessels, internal organs and digestive tract
70
SYSTEMIC SCLEROSIS - CAUSE
- Results from an overproduction and accumulation of collagen in body tissues
- The body’s immune system is thought to play a role
71
SYSTEMIC SCLEROSIS - POPULATION AFFECTED
- Women aged 30 – 50
72
SYSTEMIC SCLEROSIS - RISK FACTORS
- Genetics
- Environmental triggers
- May be triggered by certain viruses, medications or drugs, High exposure to certain chemicals or harmful substances
- Immune system problems - Believed to be an autoimmune disease
73
SYSTEMIC SCLEROSIS - CLINICAL PRESENTATION
- Hardening and tightening of the skin
- First parts of the body that are affected are the Fingers, Hands, Feet, Face
- Early symptoms include swelling and itching
- Affected skin can become lighter or darker in colour and may look shiny because of the tightness
- Some people also experience small red spots – telangiectasia – on their hands and face
- Calcium deposits can form under the skin - Especially at the fingertips
- Raynaud’s phenomenon
- **Digestive problems** - Heart burn, Difficulty swallowing, Bloating, Diarrhoea, Constipation, Faecal incontinence
- **Heart problems **- Irregular heartbeat, Heart failure may also occur in some people
- **Lung problems** - Shortness of breath, Decreased exercise tolerance, Dizziness, Pulmonary hypertension
