RESUMO
ABSTRACT: Familial Mediterranean fever (FMF) is an inherited, autoinflammatory disease with a high prevalence in Middle Eastern and Mediterranean populations including Turks, Iranian, Spanish, Sephardic Jews, Arabs, and other Mediterranean ethnic groups. Autoinflammatory diseases are genetically predetermined disorders with multisystem effects primarily caused by defects in innate immunity. Although primarily known for an autosomal recessive mode of inheritance, there are increasing case reports associated with single Mediterranean fever (MEFV) mutation or dominant transmission. There have been over 300 variants identified in the MEFV gene; however, roughly 9-11 variants are responsible for the phenotypical expression seen with FMF. Symptoms include recurrent episodes of fever of unknown origin, abdominal, chest, or joint pain because of serosal inflammation. Persistent elevations in serum amyloid A can lead to complications like renal amyloidosis, kidney dysfunction, and end-stage kidney disease. Familial Mediterranean fever is diagnosed clinically using the Tel-Hashomer criteria and confirmed through genetic testing. Treatment includes initiation of colchicine with the goal of stopping attacks and preventing renal dysfunction and end-stage kidney disease. Genetic testing helps to identify the specific mutation allowing the provider to create a patient-specific treatment plan, monitor for complications such as renal amyloidosis, and enhance knowledge on the genetic heterogeneity and possible epigenetic factors.
Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Falência Renal Crônica , Humanos , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/complicações , Irã (Geográfico) , Colchicina/uso terapêutico , Amiloidose/genética , Amiloidose/complicações , Mutação/genética , Falência Renal Crônica/complicações , Pirina/genéticaRESUMO
ABSTRACT: Lepidopterism is a term inclusive of cutaneous and systemic reactions resulting from moths, butterflies, and larva. The puss caterpillar is the larval form of the southern flannel moth, Megalopyge opercularis. A case presentation is reviewed and treatment options presented for contact with puss caterpillars and other stinging caterpillars encountered in the primary care setting. Contact with the puss caterpillar causes a characteristic rash and can produce extreme symptoms of pain for its victims. Accurate and early diagnosis can expediate treatment to alleviate symptoms and decrease morbidity in those affected and aid in differential diagnosis of various stinging caterpillars.
