Recurrent venous thrombosis in an adolescent male with CBS mutation and persistent antiphospholipid antibody...

Area of Science:

• Cardiovascular Medicine
• Genetics
• Hematology

Background:

• Elevated plasma homocysteine (Hcy) levels are associated with endothelial dysfunction, impaired thrombolysis, and increased thrombosis risk.
• Genetic mutations in the cystathionine β-synthase (CBS) gene reduce enzymatic activity, leading to hyperhomocysteinemia (HHcy).
• Antiphospholipid antibodies (aPL) are implicated in thrombotic events, often in conjunction with other risk factors.

Purpose of the Study:

• To present a case report of a young male with recurrent deep vein thrombosis (DVT).
• To investigate the underlying causes of severe DVT in a 15-year-old male.
• To explore the interplay of genetic, metabolic, and autoimmune factors in a thrombophilic condition.

Main Methods:

• Case presentation of a 15-year-old male with recurrent lower extremity DVT.
• Laboratory evaluation including plasma homocysteine levels.
• Genetic analysis for mutations in the cystathionine β-synthase (CBS) gene.
• Testing for antiphospholipid antibodies.

Main Results:

• The patient presented with recurrent, severe deep vein thrombosis (DVT) of the lower extremities.
• Laboratory tests revealed elevated homocysteine levels.
• Genetic analysis identified mutations in the CBS gene.
• Persistent positivity for antiphospholipid antibodies was observed.

Conclusions:

• The case highlights a genetic predisposition to thrombosis due to CBS gene mutations and hyperhomocysteinemia.
• The co-occurrence of antiphospholipid antibodies suggests a multifactorial thrombophilic condition.
• This case underscores the importance of investigating multiple contributing factors in young patients with recurrent DVT.