Miscarriage, peripheral thromboses and aortic aneurysm in antiphospholipid-antibody-negative Sneddon's syndrome

Sirs: A 46-year-old woman was referred to our hospital because of suspected cerebral ischemia. Two days earlier the patient had recognized a left-sided weakness and clumsiness. On neurological examination we found a mild left-sided hemiparesis and hemiataxia. There was a generalized shrinking violaceous netlike pattering of the skin especially on both legs and arms but also on the trunk and buttocks (Fig. 1). The patient reported the skin changing to be more prominent on cold exposure. The patient’s family remembered this skin finding to be evident since the age of five years. A diagnosis of livedo racemosa had been made 5 years ago. The neuropsychological assessment of this highly educated civil servant revealed a slight cognitive decline. MRI showed a right-sided cerebral ischemia in the middle cerebral artery (MCA) territory. Her medical history was significant for migraine-like headache for many years, a miscarriage 18 years before and a deep vein thrombosis of the left leg six years ago. She had no history of smoking or other cerebrovascular risk factors including no estrogen-containing oral contraceptives. The patient underwent intensive examinations including duplex sonography of extraand intracranial arteries, transesophageal echocardiography, 24-h ECG, 24-h blood pressure monitoring, multimodal evoked potentials, electroencephalography, lumbar puncture and sonography of abdomen. All these tests were negative. Extensive laboratory examinations revealed a heterozygote prothrombin 20210 mutation, which is associated with a slightly increased risk for thrombosis. Antiphospholipid antibodies (aplAB) and other laboratory examinations to exclude vasculitis, toxic metabolic disturbances and other causes for livedo racemosa were negative. Skin biopsy showed vasculopathy with intimal proliferation and an occluding thrombus. The patient was diagnosed as having antiphospholipid-antibodynegative Sneddon’s syndrome (SS) based on cerebral ischemia combined with wide-spread livedo racemosa associated with a history of miscarriage, deep vein thrombosis, migraine like headaches and mild cognitive decline. We started long-term prophylactic pharmacological therapy with captopril as a myocyte proliferation agent and with aspirin as an antiplatelet therapy. Furthermore we recommended thrombosis prophylaxis in case of immobilization. One month later the patient experienced vein thrombosis of her right forearm and suffered from dyspnea. Antiphospholipid antibody testing again was negative. EBT and CT of thorax showed an aneurysmatic dilatation of aorta ascendens up to 4.5 cm. After careful consideration of the possible disadvantages we nevertheless decided to start long-term anticoagulation instead of antiplatelet therapy because of the second thrombotic event. The elucidating and interesting issue of this case is the association of miscarriage and two vein thromboses in aplAB-negative SS. Little is known about this phenomenon and there are only a few reports about these symptoms in aplABLETTER TO THE EDITORS