vitamin-b-12 and Livedo-Reticularis

Livedoid vasculopathy (LV) is a painful ulcerative condition involving white atrophy and livedo; a histopathologic feature seen is occlusive dermal vasculopathy. This may be associated with coagulation disorders such as hyperhomocysteinaemia (HHC).. We report the case of a 52-year-old woman presenting LV in which an abnormal scan image led us to diagnose coeliac disease. This enteropathy had caused vitamin B12 and folic acid deficiency, as well as HHC. Vitamin supplementation and a gluten-free diet resulted in complete healing of the lesions.. This case underlines the importance of screening for and correction of coagulation disorders in patients with LV. It also suggests that in the event of HHC, coeliac disease should be sought, even in the absence of gastrointestinal symptoms.

Topics: Celiac Disease; Female; Folic Acid; Humans; Livedo Reticularis; Middle Aged; Treatment Outcome; Vitamin B 12; Vitamin B Complex

The cblE disorder is an inherited disorder of vitamin B12 metabolism that results in elevated levels of homocysteine and decreased methionine in body fluids. Renal complications have been reported in patients with cblC disease, but not in those with cblE disease. The renal complications of cblC disease include thrombotic microangiopathy (TMA), neonatal hemolytic uremic syndrome, chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis. Previously, we reported a patient with cblC disease who had an atypical glomerulopathy that manifested with proteinuria and progressive renal insufficiency.. Studies were done on cultured fibroblasts. Renal biopsy tissue was examined by light and electron microscopy. There was decreased incorporation of labeled methyltetrahydrofolate and decreased synthesis of methylcobalamin. Complementation analysis placed the patient into the cblE complementation group. The findings from the histological and ultrastructural studies of renal biopsy were similar, but not identical, to those of idiopathic membranoproliferative glomerulonephritis (MPGN) and overlapped with those of TMA.. We describe a patient with cblE disease who had an atypical glomerulopathy similar to MPGN. Additional findings included migraine headaches, hypothyroidism and livedo reticularis.

Topics: Anemia, Megaloblastic; Biopsy; Cells, Cultured; Disease Progression; Female; Fibroblasts; Genetic Complementation Test; Genetic Predisposition to Disease; Glomerulonephritis, Membranoproliferative; Homocystinuria; Humans; Hydroxocobalamin; Hypothyroidism; Kidney; Livedo Reticularis; Migraine Disorders; Phenotype; Predictive Value of Tests; Renal Insufficiency, Chronic; Time Factors; Vitamin B 12; Vitamin B Complex; Young Adult