Endocrine Abstracts

Multiple endocrine neoplasia type 2a (MEN 2a) is an autosomal dominant disorder with an incidence of ~1 in 30 000 of the population. It is characterized by medullary thyroid cancer (MTC), benign or malignant phaeochromocytomas, and parathyroid hyperplasia or tumours.

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), is also an autosomal dominant disorder; this condition occurs with an incidence of ~1–2 per 100 000 of the population. It manifests with primarily with epistaxis, gastrointestinal bleeding, iron deficiency anaemia, mucocutaneous telangiectasia, and arteriovenous malformations.

We present an uncommon case of two familial autosomal dominant conditions diagnosed consecutively in a single patient; MEN 2a, which she inherited from her father, and hereditary haemorrhagic telangiectasia (HHT) which was of maternal inheritance.

Our 38 year-old lady was diagnosed with medullary thyroid cancer at the age of 23 after presenting with goitre. A partial thyroidectomy was performed and histology revealed the presence of foci of medullary thyroid cancer. Completion thyroidectomy was then carried out and subsequent review of her family history revealed a positive history of thyroidectomy (later confirmed to contain foci of medullary thyroid cancer) in her father. The diagnosis of MEN 2a was confirmed by genetic testing.

More recently, as part of annual screening for MEN 2a, the patient was noted to have pulmonary arterio-venous malformations. Detailed history and physical examination revealed oral telangiectasia and a history of recurrent epistaxis in both the patient and her mother consistent with a diagnosis of hereditary haemorrhagic telangiectasia. Our patient has subsequently undergone embolisation of these lesions.