Connective tissue disorder

Question 1

Example

Answer 1

Ehlers-Danlos syndrome

Marfan’s syndrome

Question 2

What is Ehlers-Danlos syndrome?

Answer 2

Type of connective tissue disorder that results from defective collagen

Question 3

Causes of Ehlers-Danlos syndrome

Answer 3

Defect in type I and type III collagen synthesis

Question 4

Signs and symptoms of Ehlers-Danlos syndrome

Answer 4

HBO:
Hyperextension
Bruise easily
Osteoarthritis (early onset)

Question 5

Investigations of Ehlers-Danlos syndrome

Answer 5

Collagen gene mutation testing
Skin biopsy for collagen typing
ECHO for valvular heart disease and aortic dilation

Question 6

Conservative treatment of Ehlers-Danlos syndrome

Answer 6

Patient education

Question 7

Medical treatment of Ehlers-Danlos syndrome

Answer 7

Manage complications (no specific treatment)

Question 8

Complications of Ehlers-Danlos syndrome

Answer 8

Valvular heart disease
Joint deformities e.g. osteoarthritis and scoliosis
Anal prolapse
Complications during pregnancy

Question 9

Inheritance pattern of Ehlers-Danlos syndrome

Answer 9

Autosomal dominant

Question 10

What is Marfans syndrome

Answer 10

Disorder of the connective tissue due to abnormal fibrillin-1 formation

Question 11

Causes of Marfans syndrome

Answer 11

Mutated FBN1 gene

Question 12

Inheritance pattern shown by Marfans syndrome

Answer 12

Autosomal dominant

Question 13

Signs and symptoms of Marfan’s syndrome

Answer 13

ABCDP
Arachnodactyly, Astigmatism, Angina, Aortic Aneurysm/dissection
Bullae, Bronchiectasis
Cyanosis, Cysts (spinal), Coarctation of aorta
Dolichostenomelia, Dislocation of lens
Pectus carinatum/excavatum, high Palate, Palpitations

Question 14

Investigations of Marfan’s syndrome

Answer 14

Clinical diagnosis
ECG and ECHO to monitor cardiac complications
MRI scan of spinal cord to monitor neurological complications

Question 15

Conservative treatment of Marfans syndrome

Answer 15

Patient education

Genetic counselling

Question 16

Medical and surgical treatment of Marfans syndrome

Answer 16

No specific treatment - manage complications
e.g. prescribe a beta-blocker (if not contraindicated) to reduce blood pressure

Surgery used to manage some complications

Question 17

Complications of Marfans syndrome

Answer 17

Aortic dissection/aneurysm
Valvular disease
Glaucoma
Scoliosis
Depression