Q J Med 2011; 104:9991000 doi:10.

1093/qjmed/hcq191 Advance Access Publication 15 October 2010

Clinical picture
A case of benign, multiple metastases
A 65-year-old woman initially presented with a left-breast swelling at the age of 48. She had previous surgeries for appendicitis and tonsillitis but has been otherwise well. Biopsy of the breast lump demonstrated ductal carcinoma. Mastectomy was performed with no postoperative complications. Six monthly follow-ups were uneventful until 2.5 years after this episode, she presented with central chest pain and shortness of breath. A chest radiograph revealed a round opacity on the left mid zone (Figure 1). With the recent history of carcinoma of the breast, this was reported as a metastatic deposit. Plans were made to consider chemotherapy, but there was no change in the size of the lung lesion on regular follow-ups. However, another 2 years later, she was noted to have abnormal liver function tests while blood tests were arranged for increasing tiredness. Ultrasound imaging of the liver showed abnormal texture of the liver with several small low-density lesions suggestive of metastases. The presence of these lesions was confirmed with computerised tomography (Figure 2). No biopsies were undertaken and she was commenced on Tamoxifen, a new anti-tumour agent at this time for the treatment of breast cancer. She continued on regular follow-up but there were no demonstrable changes in the opacity in the lung or liver lesions for nearly 10 years. The unusual behaviour of the metastatic lesions prompted a re-review of the radiological features. An expert radiological assessment confirmed both the hepatic and pulmonary metastases as likely to be arteriovenous malformations (AVM) characteristic of hereditary haemorrhagic telangiectasia (HHT) rather than malignant deposits. In the meantime, she had three hospital admissions with chest pain secondary to ischaemic heart disease and one for congestive cardiac failure. These symptoms were retrospectively attributed to steal syndrome (causing the angina) and hyperdynamic circulation (causing cardiac failure) from the HHT. Tamoxifen was stopped and at the last clinic visit she reported occasional severe nosebleeds but otherwise good health. Further discussions were made about recommencement of tamoxifen which the patient declined as the drug was generally accepted as an antineoplastic agent. HHT is a familial disorder causing nosebleeds, gastrointestinal bleeding and vascular malformations of the pulmonary, hepatic and cerebral circulations.1 The manifestations of HHT develop with increasing age with nosebleeds being the earliest sign of disease, often occurring in childhood.2 Pulmonary AVM usually become obvious during puberty and may remain silent in >two-thirds only picked up during radiological examination for other reasons.2 However even patients with clinically silent pulmonary AVM can develop serious pulmonary haemorrhage due to erosion into a bronchus, or neurological sequelae due to paradoxical embolism from the intrapulmonary shunts.3 Hepatic involvement in HHT occurs in up to 30% of patients and is rarely symptomatic.4 Rarely, high-output heart failure and angina can occur as in our patient due to large AVM between hepatic artery and vein causing a hyperdynamic circulation and steal syndrome.4 The management of HHT is mainly supportive especially for nose bleeds and gastrointestinal bleeding with iron replacement required very frequently. Specialist follow up may be advisable for pulmonary, hepatic and cerebral AVM. Systemic estrogenprogesterone at doses used for oral contraception has been shown to eliminate bleeding in symptomatic HHT especially with resistant epistaxis. Surprisingly, there have been occasional reports of anti-hormonal agent, tamoxifen being effective stimulating a double-blind placebo controlled trial of this drug in the management of HHT-related epistaxis.5 Improvement from frequent epistaxis was noted in 9 of 10 tamoxifen-treated patients compared to 3 of 11 placebo treated patients confirming its usefulness. In summary, this case demonstrates a very unusual presentation of HHT as metastatic disease

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Clinical picture

Fig 1. Chest x-ray demonstrating opacity.

Fig 2. CT abdomen showing multiple lesions suggestive of metastasis.

and responding well to an unexpected form of therapy. Photograph and text from: Jecko Thachil, Haematology Department, Royal Liverpool University Hospital, Prescot road, Liverpool. L7 8XP, UK. email: jeckothachil@yahoo.co.uk Conflict of interest: None declared.

2. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 2003; 79:1824. 3. Kjeldsen AD, Oxhj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999; 116:4329. 4. Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000; 343:9316. 5. Yaniv E, Preis M, Hadar T, Shvero J, Haddad M. Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. Laryngoscope 2009; 119:2848.

References
1. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91:667.