Livedoid vasculopathy in a patient with factor V mutation (Leiden).
BACKGROUND
Frequently, no underlying disease can be detected in patients with livedoid vasculopathy. For these forms, an unknown vaso-occlusive or thrombogenic process has been accused to play a role. Thus, a patient with livedoid vasculopathy was examined for different parameters which can be involved in coagulopathies.


METHODS
Laboratory studies for different autoantigen reactive immunoglobulins, cryoglobulins, and circulating immune complexes were carried out. Besides dermatopathologic examination, a biopsy specimen was analyzed by direct immunofluorescence for immunoglobulin (Ig) and complement deposits. Furthermore, hemostaseological function tests including activated protein C (APC) resistance were undertaken.


RESULTS
Positive only at very low titres were antinuclear antibodies and c-ANCA, all other parameters were within normal ranges or negative. Direct immunofluorescence revealed IgM, C3 and fibrogen deposits. Hemostaseological function tests demonstrated a pathologic activated protein c resistance and PCR analysis a heterozygous defect of the factor V (Leiden).


CONCLUSIONS
The diagnosis of livedoid vasculopathy associated with factor V mutation (Leiden) was made. Since the underlying cause for livedoid vasculopathy often remains unknown, we suggest that hemostaseological function tests including APC resistance and factor V gene mutation analysis should be carried out. Further studies have to follow in order to elucidate the role of mutant factor V in livedoid vasculopathy and in cutaneous ulcerations.
Biedermann
T
T
Department of Dermatology, Ludwig Maximilians University, Munich, Germany. Tilo.Biedermann@pharma.novartis.com
Flaig
M J
MJ
Sander
C A
CA
D020016:Activated Protein C Resistance / Q000235:genetics*; D019268:Antibodies, Antineutrophil Cytoplasmic / Q000097:blood; D001808:Blood Vessels / Q000737:chemistry / Q000473:pathology; D003176:Complement C3 / Q000032:analysis; D004247:DNA / Q000032:analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D005340:Fibrinogen / Q000032:analysis; D019085:Fluorescent Antibody Technique, Direct; D006801:Humans; D007075:Immunoglobulin M / Q000032:analysis; D007871:Leg Ulcer / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012867:Skin / Q000098:blood supply*; D017445:Skin Diseases, Vascular / Q000097:blood / Q000235:genetics* / Q000473:pathology; D014657:Vasculitis / Q000097:blood / Q000235:genetics* / Q000473:pathology
D019268:Antibodies, Antineutrophil Cytoplasmic; D003176:Complement C3; D007075:Immunoglobulin M; C095381:factor V Leiden; D005165:Factor V; D005340:Fibrinogen; D004247:DNA