Document Detail

Hyperhomocysteinemia due to pernicious anemia leading to pulmonary thromboembolism in a heterozygous mutation carrier.
MedLine Citation:
PMID:  18586684     Owner:  NLM     Status:  MEDLINE    
Pulmonary thromboembolism is a life-threatening condition resulting mostly from lower extremity deep-vein or pelvic-vein thrombosis. A 46-year-old woman was admitted to hospital with pain on the right side of the chest and hemoptysis. On laboratory analysis, D-dimer level was elevated. Computed tomographic pulmonary angiography revealed intravascular filling defects due to thrombi in right lower lobe pulmonary segmental arteries. Screening for thrombophilic states was normal except for heterozygous mutations of both prothrombin and methylene tetrahydrofolate reductase (MTHFR 677) genes. Homocysteine level was high, and vitamin B12 level and serum ferritin level were reduced. Serum antiparietal antibody was positive, and therefore, pernicious anemia was diagnosed along with iron-deficiency anemia. After the diagnoses were established, enoxaparin followed by warfarin was started in addition to oral vitamin B12, pyridoxine, thiamine, folic acid, and ferroglycine sulfate supplementation. At the end of 8 weeks of the replacement therapy, vitamin B12, folate, and homocysteine levels and red cell volume were found to be normal, with complete resolution of the thrombus confirmed by repeat computed tomographic pulmonary angiography. We conclude that hyperhomocysteinemia due to vitamin B12 deficiency associated with pernicious anemia might have decreased the threshold for thrombosis. In addition, the presence of heterozygous prothrombin and methylene tetrahydrofolate reductase mutations might serve as synergistic cofactors triggering pulmonary thromboembolism.
Elif Küpeli; Cem Cengiz; Aysenur Cila; Demet Karnak
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis     Volume:  14     ISSN:  1076-0296     ISO Abbreviation:  Clin. Appl. Thromb. Hemost.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-30     Completed Date:  2008-09-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508125     Medline TA:  Clin Appl Thromb Hemost     Country:  United States    
Other Details:
Languages:  eng     Pagination:  365-8     Citation Subset:  IM    
Department of Pulmonary Diseases, Mesa Hospital, Ankara, Turkey.
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MeSH Terms
Anemia, Pernicious / blood,  complications*,  enzymology,  genetics
Hyperhomocysteinemia / blood,  complications,  etiology*,  genetics
Methylenetetrahydrofolate Reductase (NADPH2) / genetics
Middle Aged
Prothrombin / genetics
Pulmonary Embolism / blood,  enzymology,  etiology*,  genetics
Reg. No./Substance:
9001-26-7/Prothrombin; EC Reductase (NADPH2)

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