Human homozygous type I plasminogen deficiency and ligneous conjunctivitis.
On the basis of a questionnaire sent to the ophthalmology departments of hospitals throughout Germany, 10 patients with ligneous conjunctivitis or pseudomembranous disease, ranging in age from 1 to 71 years were identified. All 10 patients had severely reduced plasminogen levels. Genetic analysis revealed homozygous type I plasminogen deficiency (which had not previously been described in humans) in 7 patients and compound heterozygous plasminogen deficiency in 1 patient. Clear differentiation was not possible in 2 patients. Most of the parents had heterozygous plasminogen deficiency. None of the patients had experienced any episodes of thrombosis. Additionally, the following observations were made: 1) Levels of polymorphonuclear (PMN)-elastase protein were markedly elevated in 6 of 6 patients and 10 of 11 parents tested, and levels were higher in homozygotes than in heterozygotes. 2) Hereditary factor XII deficiency was found in 3 of 6 patients tested. 3) C1-inhibitor was elevated in 2 of 4 patients, prekallikrein was elevated in 1 of 4 patients, and plasminogen activator inhibitor type 1 was elevated in 1 of 4 patients. Infusions of lys-plasminogen concentrate induced pronounced fibrinolytic activity as indicated by high levels of D-dimer, increases in plasmin-antiplasmin complex and decreases in polymorphonuclear elastase. C1-inhibitor, prekallikrein and PAI-1 normalized after repeated infusions of lys-plasminogen. In contrast to dysplasminogenemia, severe type I plasminogen deficiency might be seen as a problem of extravascular space, in particular of the mucous membranes, possibly triggered by mechanically induced or inflammatory lesions of the vessels supplying the tissue.
Mingers
A M
AM
Children's Hospital of the University of Würzburg, Germany.
Philapitsch
A
A
Zeitler
P
P
Schuster
V
V
Schwarz
H P
HP
Kreth
H W
HW
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003174:Complement C1 Inactivator Proteins / Q000032:analysis; D003231:Conjunctivitis / Q000097:blood / Q000209:etiology*; D005260:Female; D005342:Fibrinolysis; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010958:Plasminogen / Q000172:deficiency*; D011288:Prekallikrein / Q000032:analysis
D003174:Complement C1 Inactivator Proteins; D010958:Plasminogen; D011288:Prekallikrein