Connective tissue disorders - Marfan’s syndrome and Ehlers Danlos syndrome

Question 1

What is Marfan’s syndrome?

Answer 1

An autosomal dominant condition affecting the gene responsible for creating fibrillin.

Question 2

Briefly describe the pathophysiology of Marfan’s.

Answer 2

Fibrillin is an important component of connective tissue.
This means people with Marfan syndrome have features resulting from abnormal connective tissue.

Question 3

Give 5 symptoms of Marfan’s syndrome.

Answer 3

• Tall stature
• Long neck
• Long limbs
• Long fingers (arachnodactyly)
• High arch palate
• Hypermobility
• Pectus carinatum or pectus excavatum
• Downward sloping palpable fissures

Question 4

Outline the investigations done to diagnose Marfan’s syndrome.

Answer 4

1. Physical exams
   - 2x tests for long fingers (arachnodactyly)
   - Listening to the heart for a murmurs - suggestive of mitral or aortic regurgitation
2. Echo - image of the heart - to check for aortic + heart problems
3. MRI - to examine your aorta and other blood vessels, and detect dural ectasia
4. Eye exam - to check for dislocation of the lens
5. CXR - to highlight abnormalities in bones and certain organs of the body, such as the heart and lungs

Ghent criteria - diagnostic tool:
- Major findings are required in 2/3 of the main systems affected (heart; eyes; skeleton) as well as involvement of a 3rd organ system.

Question 5

Describe the 2 physical tests done for Marfan’s syndrome.

Answer 5

2 tests for arachnodactyly to remember:

1. First, ask them to cross their thumb across their palm
   = If the thumb tip goes past the opposite edge of the hand -> this indicates arachnodactyly.
2. Next, ask them to wrap the thumb and fingers of one hand around the other wrist.
   = If the thumb and fingers overlap, this also indicates arachnodactyly.

Question 6

What is the Ghent criteria for Marfan’s syndrome?

Answer 6

Ghent Criteria:
Major: enlarged aorta, lens dislocation, Fx, at least 4 skeletal problems
Minor: myopia, loose joints, high arched palate

The major criteria are features or symptoms common in people with Marfan’s syndrome that are rare in people who do not have it.

Minor criteria are features or symptoms present in people with Marfan syndrome, but are also present in people who do not have it.

To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different symptoms.

If you have a family history of Marfan syndrome, you’ll need to have 1 of the major criteria and 1 of the minor criteria.

If you do not have a family history of Marfan syndrome, you’ll need to have 2 major criteria and 1 of the minor criteria.

Question 7

What is the aim of management of Marfan’s syndrome?

Answer 7

The aim of management is to minimise the blood pressure and heart rate to minimise the stress on the heart and the risk of complications developing.

Question 8

Management of Marfan’s syndrome.

Answer 8

1. Lifestyle changes - avoid intense exercise + coffee.
2. Beta-blockers / ARBs.
3. Physiotherapy to strengthen joints.
4. Genetic counselling for implications.
5. Yearly echo / review by ophthalmologist.

Question 9

Give 3 complications of Marfan’s syndrome.

Answer 9

Mitral/aortic valve prolapse (with regurgitation).
Aortic aneurysms (especially during pregnancy).
Lens dislocation.
Pneumothorax.
GORD.
Scoliosis.
Joint dislocation and pain.

Question 10

What is Ehlers-Danlos syndrome (EDS)?

Answer 10

An umbrella term that encompasses a group of genetic conditions that cause defects in collagen, resulting in hypermobility of the patient’s joints and abnormalities in connective tissue such as the skin, bones, blood vessels and organs.

Question 11

Briefly describe its pathophysiology of EDS.

Answer 11

1. An umbrella term that encompasses a group of genetic conditions.
2. Causes defects in collagen.
3. Resulting in hypermobility of the patient’s joints and abnormalities in connective tissue such as the skin, bones, blood vessels and organs.

Question 12

What is the most common type of EDS?

Answer 12

Hypermobile Ehlers-Danlos syndrome

Question 13

Other than hypermobile EDS, name some other types of EDS.

Answer 13

1. Classical EDS -> stretchy skin (smooth and velvety to touch), joint hypermobility, joint pain, abnormal wound healing.
2. Vascular EDS -> most dangerous! Need monitoring for vascular abnormalities, very prone to rupture. Px -> thin, translucent skin
3. Kyphoscoliotic EDS -> poor tone as neonate and infant followed by kyphoscoliosis (an abnormal curvature of the spine in both a coronal and sagittal plane) as they grow.
   Significant joint hypermobility, tall and skin px, risk of medium sized artery rupture.

Question 14

What are the 2 main presenting complaints in EDS?

Answer 14

Joint pain and hypermobility

Question 15

Name 3 general symptoms of EDS.

Answer 15

1. Joint hypermobility
2. Easily stretched skin (hyperextensibility)
3. Easy bruising
4. Chronic joint pain
5. Re-occurring dislocations

Question 16

Which test is used to investigate EDS?

Answer 16

Beighton Score for Hypermobility

Question 17

Describe the Beighton Score test.

Answer 17

The Beighton score is used to assess the extent of hypermobility and support the diagnosis of hypermobility syndrome.
One point is scored for each side of the body, with a maximum score of 9:

• Palms flat on floor with straight legs (score 1)
• Elbows hyperextend
• Knees hyperextend
• Thumb can bend to touch the forearm
• Little finger hyperextends past 90 degrees

Question 18

Management of EDS.

Answer 18

Management focuses on maintaining health joints, monitoring for complications and minimising symptoms.

1. Fitness and avoid contact sports
2. Physiotherapy (strengthen and stabilize joints)
3. Occupational therapy -> maximise function
4. Psychological support (manage chronic condition + pain)
5. Genetic counselling
6. Follow up with relevant specialties depending on the associated complications

Question 19

Name a key complication of EDS.

Answer 19

Postural Orthostatic Tachycardia Syndrome (POTS).

• Can occur with hypermobile EDS, and is a result of autonomic dysfunction.
• This causes inappropriate tachycardia on sitting or standing up
• Resulting in distressing symptoms such as presyncope, syncope, headaches, disorientation, nausea and tremor.