Antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome)
ABSTRACT CONTEXT: Antiphospholipid syndrome (APS, or Hughes' syndrome) is a systemic autoimmune disorder characterized by antiphospholipid antibody positivity, which may lead to arterial and/or venous thrombosis. Hyperhomocysteinemia (HHcy), variously associated with 5,10-methylene tetrahydrofolate reductase (MTHFR) gene point mutations, is also implicated in thromboembolic events. The association of APS and HHcy has already been described but has never been reported in patients with DiGeorge syndrome (DGS), the most common contiguous-gene deletion syndrome (22q11.2) in humans, whose phenotype conversely includes bleeding disorders. DATA ACQUISITION: In this report, we present the case of a 19-yr-old patient with a past medical history of learning disability and obesity affected with idiopathic hypoparathyroidism, metabolic syndrome, and diffuse vasculitis disorders. He was referred to our endocrinology clinic for the management of severe hypocalcemia. At the time of presentation he had been taking antiepileptic drugs for 2 wk and displayed facial dysmorphism (short neck, micrognathia, a small mouth, hypoplastic nasal alae, eye hypertelorism, and low-set simple ears). DGS was suspected and confirmed by both fluorescence in situ hybridization analysis and single nucleotide polymorphism-array analysis, which revealed contiguous gene microdeletion of the chromosome 22q11.2 in the minimal DiGeorge critical region, specifically at the gene locus D22S75 (N25). CONCLUSIONS: APS, revealed by anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate HHcy related to heterozygous C677T and A1298C point mutations of the MTHFR gene were identified as a possible cause of thrombotic disorder responsible for the widespread presence of cutaneous and cerebral lesions.
Journal of the American Academy of Dermatology 12/2012; 67(6):e282-4. DOI:10.1016/j.jaad.2012.06.024 · 5.00 Impact Factor
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ABSTRACT: A 47-year-old woman with a recent clinical diagnosis of acute cholecystitis developed acute adrenal failure. Initial computed tomograms of the abdomen showed bilateral adrenal swelling which evolved into bilateral adrenal hemorrhage on repeat examination a few days later. Laboratory investigations revealed a previously undiagnosed primary antiphospholipid syndrome and homozygosity for the MTHFR C677T mutation with hyperhomocysteinemia. This case highlights the protean clinical manifestations of adrenal vascular accidents and the need for a thorough search for underlying prothrombotic states in this setting.Internal Medicine 01/2011; 50(23):2923-6. DOI:10.2169/internalmedicine.50.6342 · 0.97 Impact Factor
Journal of the American Academy of Dermatology 12/2012; 67(6):e284-6. DOI:10.1016/j.jaad.2012.06.042 · 5.00 Impact Factor