Familial heterozygous protein s deficiency: A pathophysiologic cause of osteonecrosis

C. J. Glueck, D. Hungerford, R. Freiberg, T. Tracy, P. Wang

Research output: Contribution to journalArticlepeer-review


Our specific aim was to evaluate the pathophysiologic association of familial heterozygous protein S deficiency with osteonecrosis (ON) in a 26 year old woman and her family. The otherwise healthy 26 year old propositus, without drugs {corticosteroids}, trauma, or diseases (sickle cell, Gaucher's, caisson's, etc) known to cause ON, developed bilateral ON of her hips (Ficat stage III), knees (stage I), and shoulders (stage II). Core decompression of all 6 areas was done. She was found to have low antigenic protein S (67, normal >70%), low free protein S (61%, normal >65%), low functional protein S (60%, normal >7Q%), and low C4B binding protein (71%, normal >85%). Her ON was the only evidence of venous thrombosis. Of 5 asymptomatic first degree family members, protein S and free protein S deficiency were found in 2, her 6 year old daughter ana her 28 year old sister. Protein S deficiency apparently causes ON by promoting thrombotic occlusion of venous drainage of bone with subsequent intramedullary hypertension, bone marrow edema, anoxia, and bone death. Coumadin (INR 2-2.5) has been given to the propositus for 8 weeks. We speculate that Coumadin therapy may ameliorate ON in patients with familial protein S deficiency.

Original languageEnglish (US)
Pages (from-to)233a
JournalJournal of Investigative Medicine
Issue number3
StatePublished - Jan 1 1996

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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