Graham Hughes1 and Shirish Sangle2
(1)
The London Lupus Centre, London Bridge Hospital, London, UK
(2)
Louise Coote Lupus Unit, St Thomas’ Hospital, London, UK
Abstract
It has been estimated that in up to 20% of all cases of deep venous thrombosis (DVT) being admitted through casualty departments have the underling prothrombotic condition APS.
4.1 Venous Thrombosis and Hughes Syndrome
It has been estimated that in up to 20% of all cases of deep venous thrombosis (DVT) being admitted through casualty departments have the underling prothrombotic condition APS.
This makes it the commonest prothrombotic cause yet identified, commoner, for example than the association with Factor V Leiden. (It should also be remembered that APS, unlike factor V Leiden, can also lead to arterialthrombosis; see Chap. 10.)
4.2 Peripheral DVT
Leg and pelvic DVT remain the commonest presentations, sometimes clearly triggered by additional risk factors such as the oral contraceptive pill, or prolonged immobilisation, e.g., surgery, long-haul flights.
Axillary vein thrombosis is also seen – and should especially lead to testing for aPL (Fig. 4.1).
Figure 4.1
Color Doppler showing a clot in the axilliary vein (indicated by the arrow)
4.3 Leg Ulceration
Thrombosis in the leg can lead to leg ulceration, and Hughes Syndrome is now recognised as a cause of chronic leg ulceration – sometimes relieved with anticoagulation.
4.4 Pulmonary Embolism
Possibly because of the intensity of the clotting process in some cases of Hughes Syndrome, pulmonary embolism (PE) is not uncommon and is potentially a life-threatening complication of the syndrome – being reported in 2.1% of the 1,000 “Euro lupus” series of cases. Classically, PE presents with sudden chest pain, dyspnoea and collapse, though many varying symptoms can be found – including the well-known “urgent call for the bed pan”.
One interesting paper studied the incidence and presentation of PE in passengers arriving by long-haul flights into Charles de Gaulle airport in Paris. A common presentation was of the onset of symptoms notin the plane, but in the area between the plane and the customs hall – often with fainting preceding collapse. The authors attribute the timing to a moving of the clot (e.g.,a leg or pelvic thrombosis) after the traveller had stood and started walking.
4.5 Pulmonary Hypertension
One of the (fortunately uncommon) complications of Hughes Syndrome is pulmonary hypertension, a life-threatening condition in which the pressure in the pulmonary artery exceeds 25 mm of mercury. There are numerous causes of pulmonary hypertension (see Chap. 15), but “thromboembolic disease” is one recognised cause. Because the clotting and obstructive process in the lung can take years, it is difficult to be sure of the strength of the association between Hughes Syndrome and pulmonary hypertension. For example, in our series of cases with the combination, a small number of patients had been found to have a false-positive test for syphilis many years earlier – possibly due to aPL.
4.6 Trousseau’s Syndrome
It has long been known that some malignancies, especially adenocarcinomas of the bowel, could lead to venous thrombosis. Not surprisingly perhaps, a few cases of Trousseau’s syndrome have been described with positive aPL tests.
4.7 Organ Involvement
4.7.1 Kidney
Renal vein thrombosis is a recognised feature of Hughes Syndrome. It classically presents as acute or subacute loin pain, soon followed by proteinuria (often nephrotic), and ultimately, to renal impairment.
4.7.2 Eye
Central retinal vein thrombosis classically presents acutely with unilateral visual impairment or loss. It can be the presenting manifestation of the syndrome.
4.7.3 Liver
Intra-hepatic venous thrombosis is probably an under-diagnosed feature of Hughes Syndrome manifest by abnormal liver enzymes (for example in an aPL-positive lupus patient: abnormal liver function tests are rarely due to the lupus itself). More major venous thrombosis can affect the hepatic vein and the hepatic portal veins.
Budd-Chiari Syndrome (see Chap. 16) (hepatic vein occlusion – leading to ascites, jaundice, hepatomegaly and portal hypertension) was one of the features in the first descriptions of Hughes Syndrome in 1983.
Figure 4.2
Magnetic Resonance Imaging scan showing adrenal infarction in Hughes Syndrome
4.7.4 Brain
Sagittal sinus thrombosis, presenting with headaches and visual disturbance, and manifest by raised intra-cranial pressure, has been described in a number of patients (see Fig. 2.1).
4.7.5 Adrenal
Adrenal vein thrombosis – because of the unusual adrenal blood supply pattern – can lead to adrenal infarction and Addison’s disease (see Fig. 4.2).