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Sir,

Ocular abnormalities in hereditary haemorrhagic telangiectasia (HHT) have been described in the literature, but generally as incidental findings. We report a patient who presented with ocular abnormalities who was subsequently diagnosed as suffering from a mild variant of HHT.

Case report

A 55-year-old lady presented to the ophthalmology unit with a 4-week history of a red, painless left eye. There was no previous history of eye problems and visual acuity was 6/6 in both eyes. On examination of the left eye, there was injection of the medial bulbar conjunctiva. There was no abnormality of her palpebral conjunctiva and the intraocular pressure and fundus examination were normal. A diagnosis of episcleritis was made and she was commenced on a short course of prednisolone 0.5% eye drops. At her review 4 weeks later, there was no improvement in the injection of the left eye. The dilated vessels were mobile over the underlying episclera. It was then noted that there was also some injection of the medial limbal conjunctiva of the right eye resembling a small bulbar conjunctival telangiectasia (Figure 1). The right eye otherwise had no abnormality.

Figure 1
figure 1

Bulbar conjunctival telangiectasia in the right eye.

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On questioning, the patient admitted frequent nosebleeds throughout her life ceasing spontaneously without medial assistance. She also reported occasional bleeding from her mouth and on examination she had several telangiectasia on her hard palate (Figure 2) and on the buccal mucosa. She had a small telangiectatic lesion on her chin but none visible elsewhere on her skin. She had no rectal bleeding and was otherwise healthy. Autoimmune screening and full blood picture were normal.

Figure 2
figure 2

Telangiectasia on patient's hard palate.

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She stated that her son also suffers from frequent nosebleeds. He has no known ocular abnormality and is otherwise healthy.

Following these developments, the diagnosis of episcleritis was revised to HHT and the topical steroid treatment stopped. The conjunctival appearance was unchanged after the cessation of treatment.

Comment

HHT is a genetically determined disorder affecting blood vessels throughout the body. The inheritance is autosomal dominant with a high degree of penetrance but variable expression. Approximately 20% of all cases are unaware of a family history. The disease is characterised by dilated thin-walled vascular anomalies of the skin and mucous membranes, and recurrent epistaxis is the usual presenting symptom. In the literature, eye involvement has been documented in 45–65% of patients with HHT, with the most common lesions being conjunctival telangiectasias usually of the palpebral conjunctiva.1, 2 Retinal arteriovenous malformations, retinal telangiectasia and choroidal haemorrhage during intraocular surgery have also been seen rarely.1, 2, 3

Diagnosis of the disease is based on clinical findings of mucosal and/or skin lesions and bleeding from the lesions. Our patient had typical features of HHT with lesions of the skin and buccal mucosa, bleeding from the mouth and a personal and family history of epistaxis. In the vast majority of sufferers, HHT becomes manifest before the age of 21 years. We propose that our patient has a mild variant of HHT presenting late in life. Interestingly, the literature has reported that low doses of oestrogens in contraceptive pills may aggravate the condition.4 Our patient had been commenced on hormone replacement therapy (HRT) a few months prior to the appearance of the lesions and the oestrogen administration may have played a part in the manifestation of the disease in the eye.

To our knowledge, there is only one previous report in the literature of HHT presenting initially as an ocular abnormality.5 In addition, it is very unusual for the lesions to be located on the bulbar conjunctiva and for the patient to develop the disease so late in life.

The case illustrates the value of systemic examination when a patient presents with an ocular problem.