Artherial thrombosis with antiphospholipid syndrome in 17 year old female patient: case of familial antiphospholipid syndrome

Background The Antiphospholipid syndrome is a multiorgan, autoimmune disorder characterized by repeated vascular thrombosis, pathologic pregnancies, thrombocytopenia and positive antiphospholipid antibodies (aPL), anticardiolipin antibodies (aCL) and/or anti-s2 glycoprotein I antibodies (anti-s2GP I). There is primary and secondary antiphospholipid syndrome, «catastrophic» and so called «familial”APS connected to HLA gene loci DR 4, DR 7, DQB1 i DRB 1 and valin247/leucin polymorphism on antigen for s2GP I. This case report will present 17-year old, previously healthy girl admitted to our Department of Paediatrics, Division of Paediatric Rheumatology, with occlusion of right radial and left popliteal artery. She used combined progesterone-estrogen contraceptive in August 2009 for few months because of irregular menstrual cycle. The illness started a month before admittance with rash and itching of right hand and left foot accompanied with pain in left lower leg. She was initially hospitalized in local hospital where she was diagnosed with right radial and left popliteal arterial occlusion and treated unsuccessfully with low molecular heparin. After she was transferred to our Divison mid December 2009 for further consultations and treatment she developed clinical symptoms of complete left popliteal occlusion. She was transferred to Department of Cardiovascular Disease where she successfully underwent fibrinolysis with alteplase. Laboratory findings showed increased s2GP I and cardolipin antibodies measures on admittance and after 12 weeks period which led us to antiphspholipid syndrome diagnosis. In the mean time patients mother developed deep vein thrombosis of lower extremities and is in process of further immunologic testing, so it could be a case of familial antiphospholipid syndrome.