Catastrophic antiphospholipid syndrome

A rare cause of disseminated microvascular thrombotic injury - A case report with pathological and molecular correlative studies

Syeling Lai, David Walker, M. Tarek Elghetany

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Catastrophic antiphospholipid syndrome (CAPS) is a severe and rare variant of antiphospholipid syndrome (APS) characterized by acute multiorgan failure due to small vessel thrombi in patients with positive antiphospholipid antibodies. We report a fatal case of catastrophic antiphospholipid syndrome in a young woman with a history of polymyositis and Hodgkin lymphoma. The patient was admitted to hospital because of severe foot pain following several weeks of skin ulcerations. Doppler ultrasonography showed evidence of arterial ischemia of the both lower extremities. Despite anticoagulation, immunosuppression, plasmapheresis and antibiotic therapy, she developed cutaneous gangrene, retroperitoneal hematoma, ileus, and acute respiratory and renal failure that resulted in death. Autopsy showed multifocal vascular injury and microthrombi with associated hemorrhages and infarcts in multiple organs. The patient had normal levels of functional protein C and protein S and a normal level of plasma homocysteine. Tests for common thromophilic gene mutations including prothrombin 20210, factor V Leiden 1691, and methylene tetrahydrofolate reductase 677 were negative. To our knowledge, this is the first CAPS patient with molecular studies for genetic prothrombotic mutations. Our report showed that there was no association between the development of CAPS and inherited thromophilia.

Original languageEnglish (US)
Pages (from-to)144-149
Number of pages6
JournalPathology International
Volume55
Issue number3
DOIs
StatePublished - Mar 2005

Fingerprint

Antiphospholipid Syndrome
Wounds and Injuries
Polymyositis
Methylenetetrahydrofolate Reductase (NADPH2)
Doppler Ultrasonography
Skin
Mutation
Antiphospholipid Antibodies
Gangrene
Plasmapheresis
Ileus
Vascular System Injuries
Protein S
Prothrombin
Homocysteine
Protein C
Hodgkin Disease
Acute Kidney Injury
Respiratory Insufficiency
Hematoma

Keywords

  • Antiphospholipid syndrome
  • Autopsy
  • Thrombophilia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

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abstract = "Catastrophic antiphospholipid syndrome (CAPS) is a severe and rare variant of antiphospholipid syndrome (APS) characterized by acute multiorgan failure due to small vessel thrombi in patients with positive antiphospholipid antibodies. We report a fatal case of catastrophic antiphospholipid syndrome in a young woman with a history of polymyositis and Hodgkin lymphoma. The patient was admitted to hospital because of severe foot pain following several weeks of skin ulcerations. Doppler ultrasonography showed evidence of arterial ischemia of the both lower extremities. Despite anticoagulation, immunosuppression, plasmapheresis and antibiotic therapy, she developed cutaneous gangrene, retroperitoneal hematoma, ileus, and acute respiratory and renal failure that resulted in death. Autopsy showed multifocal vascular injury and microthrombi with associated hemorrhages and infarcts in multiple organs. The patient had normal levels of functional protein C and protein S and a normal level of plasma homocysteine. Tests for common thromophilic gene mutations including prothrombin 20210, factor V Leiden 1691, and methylene tetrahydrofolate reductase 677 were negative. To our knowledge, this is the first CAPS patient with molecular studies for genetic prothrombotic mutations. Our report showed that there was no association between the development of CAPS and inherited thromophilia.",
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