Cutaneous necrosis revealing the coexistence of an antiphospholipid syndrome with acquired protein S deficiency, factor V Leiden and hyperhomocysteinemia.

Abstract

UNLABELLED:

We report an exceptional case of cutaneous necrosis due to the coexistence of 4 thrombophilic factors, inherited and acquired. We would like to draw attention to these unrecognized associations.

CASE REPORT:

A 72-year-old woman was admitted with a 5 month history of necrotic nonhealing, painful ulcer of both legs and recently a purple toe. She had a history of 3 deep venous thromboses of the leg complicated by pulmonary embolism. A skin biopsy of the ulcer and purple toe showed only thrombosis in the dermal vessel. Laboratory findings showed a circulating lupus anticoagulant, positive anticardiolipin antibodies, antinuclear antibodies (1/320 dilution) and an anti Sm. Moreover, activated protein C resistance associated with factor V Leiden mutation and hyperhomocysteinemia was found; protein S was transiently low. With iloprost, oral anticoagulant, vitamin B12 and folic acid, the evolution was good, with healing of ulcer.

COMMENTS:

cutaneous necrosis can reveal hypercoagulable states, sometimes complex. We find 4 thrombophilic factors in our case, i.e. antiphospholipid antibodies, factor V Leiden, protein S deficiency and hyperhomocysteinemia. This is exceptional but highlights the role of several constitutional and acquired thrombophilic factors in the genesis of thrombosis. Extended protein C pathway disturbances could explain the mechanism that leads to cutaneous necrosis, in this patient, with an antiphospholipid syndrome. This case shows that it is necessary in some circumstances to make a complete hemostatic laboratory search to detect several thrombophilic factors. If they are present they can justify an oral anticoagulant treatment and a familial screening.

• Authors: Patrick Combemale, Jean Amiral, Jean-Louis Estival, Michel Dupin, Brigitte Chouvet, Micheline Berruyer
• Journal: European journal of dermatology : EJD (Eur J Dermatol) 2002 May-Jun Vol. 12 Issue 3 Pg. 278-82 ISSN: 1167-1122 [Print] France
• PMID: 11978573 (Publication Type: Case Reports, Journal Article)

Chemical References

• Anticoagulants
• factor V Leiden
• Factor V

Topics

• Aged
• Anticoagulants (therapeutic use)
• Antiphospholipid Syndrome (complications)
• Factor V (genetics)
• Female
• Humans
• Hyperhomocysteinemia (complications)
• Leg Ulcer (pathology)
• Mutation
• Necrosis
• Protein S Deficiency (complications)
• Skin (pathology)