A Missed Diagnosis Case Report of Homocystinuria and Literature Review
JIN Da-chuan
JI Guang-sen
WU Shu-fang
YANG Ya-qi
YUAN Xiao-yan
Abstract：Objective To investigate pathogenesis, clinical features, key points of diagnosis and treatment for homocystinuria in order to avoid misdiagnosis and missed diagnosis.Methods Clinical data of 1 missed diagnosis patient with homocystinuria was retrospectively analyzed, and related literature was reviewed.Results A 55-years-old male was diagnosed as having deep venous thrombosis (DVT) and pulmonary thromboembolism (PTE) because of manifestations of DVT, PTE and long-term osteoporosis in a US local hospital, and was treated with thrombolytic and anticoagulant medicine.He was discharged after part improvement of symptoms.The patient was detected abnormally elevated plasma homocysteine (Hcy, 51.8 μmol/L) during his rechecking in our hospital.Further gene sequencing test revealed two heterozygous nucleotide missense mutations in the CBS (Cystathionine β-synthase) gene (c.572C>T & c.919G>A).Homocystinuria was confirmed.Symptoms was relieved completely and plasma homocysteine level was reduced to normal after receiving oral administration of Pyridoxine, Folic Acid and Cobalamin for three months.Conclusion Clinical manifestation of homocystinuria is complex and lack of specificity, and therefore it is easily misdiagnosed.Homocystinuria should be highly suspected for patients with refractory DVT, PTE, osteoporosis and abnormal level of blood Hcy, and relevant gene tests are helpful for clinicians to confirm the diagnosis.
Keywords：HomocystinuriaCystathionine β-synthaseVenous thrombosisGene mutationMissed diagnosis
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 46-49 )