Rare nutritional disorders

Question 1

Vitamin C deficiency (scurvy) features

Answer 1

Risk factors include populations experiencing famine and war, and refugee populations.

Clinical features are caused by impaired collagen synthesis. Common clinical features include:

Spontaneous bleeding and bruising
Gingival swelling
Coiled hairs
Teeth loss

Treatment with vitamin C replacement is required. If not treated there is high risk of intracerebral or endocardial haemorrhage.

Question 2

Vitamin B1 deficiency features

Answer 2

Patients with thiamine (vitamin B1) deficiency typically present with:

Wernicke’s encephalopathy (confusion, ataxia, and ocular abnormalities)
Wet beriberi (high output cardiac failure)
Dry beriberi (peripheral neuropathy)

Risk factors include chronic alcohol use and malabsorption.

Treatment is with intravenous thiamine.

Question 3

Vitamin B3 deficiency (pellagra) features

Answer 3

Vitamin B3 deficiency (pellagra) features
This is more common in underdeveloped countries and countries in which the diet consistent predominantly of corn and maize.

Symptoms can be remembered according to the 3 Ds:

Diarrhoea
Dermatitis
Dementia

Treatment is with nicotinamide (vitamin B3).

Risk factor include Alcoholism and Crohn’s disease due to malnutrition/malabsorption

Question 4

Vitamin A deficiency features

Answer 4

This is more common in developing countries.

The first presentation is with night blindness and xerophthalmia (risking corneal ulceration). Complete blindness may develop.

Vitamin A is important in photo-transduction as it is a key component of rhodopsin (composed of retinal - a form ov vitamin A - and opsin - a protein). Rhodopsin is important for vision in low light environments.