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

This is 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)