Exertional haemoptysis: LAM and TSC
Tuberous sclerosis (TSC) is characterised by the occurrence of hamartomas in different organs. It is autosomal dominant with complete penetrance and variable expression. TSC is associated with epilepsy, learning difficulties, behavioural problems, and renal and dermatological pathology. Lymphangioleiomyomatosis (LAM) is principally a pulmonary condition characterised by smooth muscle (leiomyo) proliferation around lymphatics (lymph), blood vessels (angio), and alveolar airways. Cystic destruction of lung parenchyma results in the development of pneumothoraces. 50% of patients with LAM have renal angiomyolipomas which are also the most common renal lesion in TSC.1 LAM occurs in association with TSC or, less commonly, as a sporadic single entity.2 It is almost exclusive to woman, usually of childbearing age. The most common presentations are dyspnoea, pneumothorax, or chylothorax.1,2 LAM may be asymptomatic.
A 47 year old woman presented with a 9 month history of haemoptysis on exertion. Dyspnoea was not a feature. Haemoptysis was occurring with increasing regularity following swimming and sexual intercourse, precluding both activities. The volume of blood was usually 10–20 ml. She had stopped smoking a year previously and had a 25 pack year history. There was a history of childhood epilepsy. There was no medical family history.
On examination the patient had a rash on the chin which reportedly bled following viral infections. There was a single subungual fibroma. Cardiovascular and respiratory examinations were normal. Pulmonary function tests showed normal lung volumes: FEV1 2.72 l, FVC 3.43 l, TLC 5.21 l, and RV 1.96 l with a corrected transfer factor of 73% predicted. Bronchoscopic examination revealed no source of bleeding. A high resolution CT scan of the thorax showed multiple cystic spaces with well defined walls and normal intervening lung (fig 1). A contrast CT scan of the head showed a single densely calcified subependymal nodule related to the right lateral ventricle. An abdominal CT scan identified multiple renal lesions bilaterally and a single hepatic lesion. Renal biopsy confirmed the presence of angiomyolipomas.
The above findings fulfil the criteria for a diagnosis of LAM and TSC.1 In view of the diverse clinical course of LAM and the questionable value of hormone therapy, the patient was not commenced on treatment but referred for genetic screening.1 This case underscores the need to consider such a diagnosis in female patients presenting with solitary exertional haemoptysis.
Section from pulmonary high resolution CT scan showing multiple cystic regions with normal intervening lung parenchyma.
