Hughes-Stovin syndrome: A very rare clinical disorder

Clinical History

A 17-year-old male patient presented with cough, repetitive haemoptysis, dyspnoea and chest pain for 6 months. There was no history of fever. His CBC result was normal and tuberculosis test was negative.

Imaging Findings

Contrast-enhanced CT of the chest showed aneurysmal dilatation of left main pulmonary artery with partially thrombosed lumen (Fig. 1, 3). Dilatation of a subsegmental pulmonary artery branch on the right side was also noted (Fig. 2). Images of the upper abdomen revealed non-visualization of the infrarenal part of the IVC associated with multiple collateral vessels in infrahepatic location (Fig. 4).

Discussion

Hughes-Stovin syndrome (HSS) is a very rare clinical disorder with less than 40 cases published in the English literature so far [1]. It is characterized by a combination of systemic venous thrombosis and pulmonary artery aneurysm. Pulmonary artery aneurysms are generally multiple and bilateral in 50% of cases. The majority of patients develop peripheral venous thrombosis; however, intracardiac, dural sinus, inferior and superior vena cava, jugular, iliac and femoral vein thrombosis have also been reported [2]. Aneurysms generally involve pulmonary and bronchial arteries but can also occur anywhere in systemic circulation. HSS has also been reported in cases of left hepatic artery [3] and iliac artery aneurysms [4].
HSS usually affects the young adult population (reported cases ranged from 12 to 48 years) with strong predilection for the male gender [5-7]. Patients generally present with non-specific findings suggestive of pulmonary artery aneurysm (haemoptysis, dyspnoea, chest pain and signs of pulmonary hypertension) following a history of peripheral venous thrombosis. Other associated signs include fever and intracranial hypertension. Aetiology of HSS is unknown; however, it is assumed that HSS is a form of vasculitis following a mechanism of pathogenesis similar to that related to Behcet's disease [8].
Diagnosis of HSS is made on the basis of clinical symptoms, patient history and imaging (chest radiographs, conventional angiography or computed tomography) for detection and evaluation of the pulmonary artery aneurysms. Traditionally conventional angiography has been regarded as the gold standard for diagnosis of HSS. However, it should be noted that selective pulmonary angiography can be hazardous as it carries the risk of aneurysm rupture [9]. Multi-detector row helical CT angiography now offers more precise visualization of large systemic arteries than conventional angiography. As such, it can be regarded as an emerging and effective standard in the diagnosis of pulmonary artery aneurysms because of its non-invasive nature, ease of performance and increasing availability. Furthermore, Ketchum et al showed that 3D volume rendering analysis can detect morphologically abnormal, tortuous branches of bronchial arteries even before aneurysm formation [10, 11].
Histologic studies show destruction of the arterial wall and perivascular lymphomonocytic infiltration of capillaries and venules [8].
HSS has a poor prognosis and aneurysmal rupture is the leading cause of death. However, early diagnosis and timely intervention is crucial in improving the prognosis. Therefore all young male patients presenting with typical clinical history should be suspected for HSS and carefully evaluated.

Differential Diagnosis List

Final Diagnosis

Hughes-Stovin syndrome

URL:	https://www.eurorad.org/case/12561
DOI:	10.1594/EURORAD/CASE.12561
ISSN:	1563-4086