Polyendocrine Conditions

This is a group of genetic conditions which affect multiple glands and tissues.

• Multiple Endocrine Neoplasia

This is an inherited autosomal dominant condition that leads to multiple hormone producing tumours in endocrine glands. Divided into three types:

– Type 1 (Wermer Syndrome) is due to a mutation in the MEN1 tumour suppressor gene,

– Type 2 is due to a RET oncogene (receptor tyrosine kinase) mutation and is split into 2 types.

– For type 1, the most common presentation is hypercalcaemia due to parathyroid hyperplasia

Treatment – Treat the affected glands, usually by surgical excision

• Sjogren’s syndrome

An autoimmune disorder which is characterised by lymphocyte infiltration and fibrosis of exocrine glands, usually lacrimal and salivary glands

– Primary – this occurs more in females (90%) around 40-50 years old

– Secondary – due to rheumatoid arthritis or other connective tissue disorders

Symptoms:

– Major risk is development of non-Hodgkin Lymphoma

– Dry eyes (keratoconjunctivitis sicca)

– Dry mouth (xerostomia)

– Raynaud’s Phenomenon

– Joint and muscle pain

– Renal tubular acidosis

– Sensory neuropathy

Diagnosis:

– Rheumatoid factor + ANA positive

– anti-Ro (SSA) antibodies in 70%         – anti-La (SSB) antibodies in 30%

– Schirmer’s test – uses filter paper to measure tear formation in eyes –> shows low production

Management:

– 1st line is symptom control –> artificial tears drops and saliva stimulants (pilocarpine)

– If severe with arthralgia, immunosuppressants (hydroxychloroquine)