Late-Onset Homozygous Protein C Deficiency Manifesting Cerebral Infarction as the First Symptom at Age 27.

SummryHomozygosity for a novel D180G mutation in the protease domain of protein C, associated with plasma protein C activity and antigen levels of 8% of normal was identified in a thrombosis prone family. Transient expression of protein C in HK-293 cells and analysis of protein C antigen in culture media and cell lysates showed that the secretion of mutant protein as compared with wild-type protein was reduced by 79% while the intracellular contents were similar. Computer analysis of the X-ray structure of activated protein C and of a theoretical model of the zymogen predicts that the mutation destabilises the molecule locally. Our results are compatible with a relatively unstable mutant molecule that could be trapped inside the cell and degraded. However, if secreted the mutant molecule could have a relatively normal catalytic activity and structure consistent with the plasma levels of protein C activity and the late onset of thrombosis.

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Cerebral infarction associated with protein C deficiency.

Stroke ◽

10.1161/01.str.23.1.108 ◽

1992 ◽

Vol 23 (1) ◽

pp. 108-111 ◽

Cited By ~ 20

Author(s):

K Matsushita ◽

Y Kuriyama ◽

T Sawada ◽

K Uchida

Keyword(s):

Cerebral Infarction ◽

Protein C ◽

Protein C Deficiency

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Cerebral Infarction in a Young Adult Associated with Protein C Deficiency

Angiology ◽

10.1177/000331979504600212 ◽

1995 ◽

Vol 46 (2) ◽

pp. 169-173 ◽

Cited By ~ 5

Author(s):

Hiroyuki Kato ◽

Masashi Shirahama ◽

Keizo Ohmori ◽

Toshiaki Sunaga

Keyword(s):

Young Adult ◽

Cerebral Infarction ◽

Protein C ◽

Protein C Deficiency

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A Case Report of Re-occlusion after Mechanical Thrombectomy to the Patient with Protein C Deficiency-associated Cerebral Infarction

Journal of Neuroendovascular Therapy ◽

10.5797/jnet.cr.2018-0071 ◽

2019 ◽

Vol 13 (7) ◽

pp. 293-298

Author(s):

Soichiro Numa ◽

Toshinori Takagi ◽

Shun Ono ◽

Kyohei Fujita ◽

Masatomo Miura ◽

...

Keyword(s):

Case Report ◽

Cerebral Infarction ◽

Protein C ◽

Mechanical Thrombectomy ◽

Protein C Deficiency

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Problems of Oral Anticoagulation in an Adult with Homozygous Protein C Deficiency and Late Onset of Thrombosis

Thrombosis and Haemostasis ◽

10.1055/s-0038-1651603 ◽

1993 ◽

Vol 69 (04) ◽

pp. 311-315 ◽

Cited By ~ 26

Author(s):

P Pescatore ◽

H M Horellou ◽

J Conard ◽

M Piffoux ◽

P Van Dreden ◽

...

Keyword(s):

Molecular Weight ◽

Oral Anticoagulation ◽

Skin Necrosis ◽

Protein C ◽

Low Molecular Weight Heparin ◽

Late Onset ◽

Low Molecular Weight ◽

Activity Levels ◽

Protein C Deficiency ◽

New Therapeutic Approaches

SummaryWe describe a 57-year-old woman with homozygous protein C deficiency and mild thrombotic manifestations consisting of three spontaneous distal deep vein thromboses occurring after the age of 45. Previous surgery and pregnancies had been uneventful. Low but detectable protein C antigen and activity levels (both 20%) were discovered on the occasion of skin necrosis induced by oral anticoagulation. This therapy was interrupted because of skin necrosis and several episodes of disseminated intravascular coagulation (DIC) at the initiation of treatment despite a cautious protocol. No recurrent thromboembolic event has occurred in our patient using prophylactic doses of low molecular weight heparin for 24 months. New therapeutic approaches might be the administration of low molecular weight heparin or oral anticoagulation associated with protein C replacement in the induction period. This case reflects the variability of expression of protein C deficiency as well as the potential hazards of antivitamin K anticoagulation in this disorder.

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