Familial antiphospholipid syndrome presenting as bivessel arterial occlusion in a 17-year-old girl

Rheumatol Int. 2013 May;33(5):1359-62. doi: 10.1007/s00296-011-2300-5. Epub 2011 Dec 22.

Abstract

This article presents a case of a 17-year-old girl with primary antiphospholipid syndrome developing subacute signs of hand and leg ischaemia caused by radiologically verified radial and popliteal artery occlusion. She is successfully treated with a thrombolytic agent (alteplase) and recovers completely. Her laboratory results came positive for all three subtypes of antiphospholipid antibodies. This kind of antiphospholipid syndrome presentation is a very rare entity in itself. Shortly afterwards her mother is diagnosed with primary antiphospholipid syndrome as well. A familial form of antiphospholipid syndrome is suspected. Combination of a familial antiphospholipid syndrome presenting as bivessel arterial thrombosis is a unique case, to the best of our knowledge, never described in the literature before.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Adolescent
  • Angiography, Digital Subtraction
  • Antibodies, Antiphospholipid / blood
  • Anticoagulants / administration & dosage
  • Antiphospholipid Syndrome / blood
  • Antiphospholipid Syndrome / complications*
  • Antiphospholipid Syndrome / diagnosis
  • Antiphospholipid Syndrome / genetics
  • Antiphospholipid Syndrome / immunology
  • Arterial Occlusive Diseases / blood
  • Arterial Occlusive Diseases / diagnosis
  • Arterial Occlusive Diseases / drug therapy
  • Arterial Occlusive Diseases / etiology*
  • Biomarkers / blood
  • Constriction, Pathologic
  • Female
  • Fibrinolytic Agents / therapeutic use
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Ischemia / etiology
  • Pedigree
  • Popliteal Artery* / diagnostic imaging
  • Radial Artery* / diagnostic imaging
  • Thrombolytic Therapy
  • Tissue Plasminogen Activator / therapeutic use
  • Treatment Outcome
  • Warfarin / administration & dosage

Substances

  • Antibodies, Antiphospholipid
  • Anticoagulants
  • Biomarkers
  • Fibrinolytic Agents
  • Warfarin
  • Tissue Plasminogen Activator

Supplementary concepts

  • Familial antiphospholipid syndrome