Homocysteine concentration in primary and systemic sclerosis associated Raynaud's phenomenon.
OBJECTIVE
To investigate whether patients with systemic sclerosis (SSc) have raised homocysteine (Hcy) plasma levels, thought to be an independent risk factor for vascular disease, and to study the relationship between Hcy and endothelial damage, and between Hcy and methylene-tetrahydrofolate reductase (MTHFR) genotypes, and patients' vitamin nutritional status, which are among the more frequent causes of hyperhomocysteinemia.


METHODS
We measured Hcy, von Willebrand factor (vWF), folic acid, and vitamin B12 plasma levels and analyzed the frequencies of MTHFR mutations in 30 patients with SSc and 12 patients with primary Raynaud's phenomenon (RP); 29 healthy subjects served as controls.


RESULTS
Patients with SSc had higher Hcy and vWF concentrations than those with RP (p < 0.01 and p < 0.02, respectively) or controls (p < 0.02 and p < 0.0001, respectively). Folic acid and vitamin B12 were lower in SSc than in RP (p < 0.01 and p < 0.02, respectively) or controls (p < 0.05). MTHFR genotype did not influence Hcy, folate, or vitamin B12 concentrations, but patients homozygous for the mutant gene had higher vWF levels.


CONCLUSIONS
Patients with SSc, but not those with RP, had significantly higher Hcy and vWF plasma levels. Nutritional rather than inherited factors seem to have a pathogenic role in SSc hyperhomocysteinemia.
Marasini
B
B
Department of Medicine, Surgery and Dentistry, Institute of Radiological Sciences, San Paolo Hospital, Italy. bianca.marasini1@unimi.it
Casari
S
S
Bestetti
A
A
Maioli
C
C
Cugno
M
M
Zeni
S
S
Turri
O
O
Guagnellini
E
E
Biondi
M L
ML
D000328:Adult; D000368:Aged; D005260:Female; D005492:Folic Acid / Q000097:blood; D005838:Genotype; D006710:Homocysteine / Q000097:blood*; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D009994:Osmolar Concentration; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D011928:Raynaud Disease / Q000097:blood* / Q000150:complications* / Q000235:genetics; D012595:Scleroderma, Systemic / Q000097:blood* / Q000150:complications* / Q000235:genetics; D014805:Vitamin B 12 / Q000097:blood; D014841:von Willebrand Factor / Q000032:analysis
D014841:von Willebrand Factor; D006710:Homocysteine; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12