Seminar G - Connective Tissue Disease

Question 1

Definition

Answer 1

A heterogeneous group of non-organ specific autoimmune diseases.

→Collagen Vascular diseases, they are distinct form the true diseases of collagen such as Marfan’s Syndrome and Ehlers-Danlos Syndrome.

Question 2

Ehlers-Danlos Syndrome

Answer 2

Defect in the production, structure or processing of collagen.

Question 3

Organ Specific autoimmune disease

Answer 3

Type 1 Diabetes Mellitus
Addison’s Disease
Hasimoto’s Thyroiditis
Pernicious Anaemia

Question 4

Non-organ Specific autoimmune disease

Answer 4

RA
SLE
Sjogrens Syndrome
Polymyositis

Question 5

Livedo reticularis

Answer 5

• Livedo reticularis (trunk, arms and legs) – netlike
pattern of reddish-blue skin discoloration
• Idiopathic

Question 6

Henoch-Schonlein purpura

Answer 6

• Generally occurs over the buttocks

* Any ulceration should be inspected and bipopsied for signs of cutaneous vasculitis

Question 7

Blood tests

Answer 7

Inflammatory markers
•	Raised ESR
•	Raised plasma viscosity
•	C-reactive protein
•	RF
•	Autoimmune profile (Antinuclear antibodies, antibodies to dsDNA)
•	Urea and electrolytes
•	Liver function tests
•	Bone profile (Calcium, phosphate etc)
•	Thyroid function tests

Question 8

Additional Tests

Answer 8

Serum electrophoresis (with urine for Bence-Jones protein)
Complement (C3, C4) levels
Cryoglobulines
Creatine Kinase
Serum urate
HLA typing

Question 9

X-ray

Answer 9

Pulmonary Fibrosis in SLE and RA

→Opacity especially in the mid, and lower zones on the right lung

Question 10

Other tests

Answer 10

Spirometry (+/- full pulmonary function tests)
Chest radiograph
Echocardiagram
Barium Swallow
Electromyogram
Muscle biopsy