AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |
Back to Blog
Reynolds phenomena symptoms12/29/2023 An elevated serum bilirubin is a poor prognostic sign. Diagnostic methodsĭiagnosis of RS relies on the clinical findings for lcSSc and, for PBC, on the biochemical evidence of cholestasis which is based on marked elevation of serum alkaline phosphatase, gamma-glutamyl transpeptidase enzymes and IgM concentrations, a positive test for serum mitochondrial antibody, histologic evidence of non suppurative destructive cholangitis and destruction of interlobular bile ducts. Mutations in LBR may either have a direct pathogenic effect or constitute a predisposing factor in conjunction with other genetic and environmental factors. The mutation was predicted to induce a change in Lamin B receptor tertiary structure. A heterozygous missense mutation in LBR exon 9 was identified in a Caucasian woman with RS. The pathological mechanism of RS has not yet been established, but it is assumed to be an auto-immune disorder. An overlap syndrome between nodular regenerative hyperplasia of the liver (see this term), PBC, and lcSSc may exist. In some, RS is associated with other autoimmune diseases such as Sjögren's syndrome, autoimmune hemolytic anemia and (in one case) with thymoma (see these terms). Inflammatory arthropathies are observed in approximately 40% of patients with PBC. About 25-50 % of newly diagnosed RS patients have hyperpigmentation of skin, and jaundice at a later stage. In 50% of cases, symptoms of scleroderma occur prior to those of PBC. RS associates the features of PBC (fatigue, pruritus due to cholestasis, hepatomegaly) with most features of lcSSC (cutaneous calcifications, digital ulcers, facial telangiectasias, calcinosis, Raynaud's phenomenon, esophageal involvement and sclerodactyly). Conversely, the prevalence of PBC in SSc patients is about 2%. The prevalence of systemic sclerosis (SSc) in PBC patients is 5-15%.
0 Comments
Read More
Leave a Reply. |