Acro-osteolysis due to protein S deficiency: A rare case

Area of Science:

• Hematology
• Vascular Medicine
• Orthopedics

Background:

• Protein S deficiency is a rare inherited disorder causing a hypercoagulable state.
• It typically leads to venous thromboembolic events, but arterial thrombosis is less common.
• Anti-phospholipid antibodies can be associated with protein S deficiency.

Observation:

• A young, non-smoking male presented with osteolysis (bone loss) of the great toes.
• The patient was diagnosed with protein S deficiency.
• The patient tested negative for anti-phospholipid antibodies.

Findings:

• This case represents the first reported instance of osteolysis of the great toes linked to protein S deficiency.
• The presentation of arterial thrombosis with osteolysis in this context is highly unusual.
• The absence of anti-phospholipid antibodies further distinguishes this case.

Implications:

• This case highlights a rare arterial manifestation of protein S deficiency.
• It suggests that protein S deficiency should be considered in young patients with unexplained osteolysis, even without typical risk factors.
• Further research may elucidate the mechanisms linking protein S deficiency to arterial complications like osteolysis.