P01-041 – Patient management and rare FMF symptoms
نویسندگان
چکیده
Introduction Analysis of various symptoms from 20000 FMF patients indicates that several issues, including the clinical manifestation in a variety of combinations and the genotype penetrance, make FMF diagnosis and management challenging. Severe phenotypes with development of serositis, ELE, splenomegaly, and vasculitis are associated with high penetrance mutations of exon 10, mainly M694V allele.
منابع مشابه
P01-026 – A case of FMF and hereditary coproporphyria
Introduction We report a unique case in a 17 year old male patient of Algerian origin with two rare genetic conditions with overlapping clinical symptoms. Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serositis. Hereditary coproporphyria (HCP) is one of the type of acute hepatic porphyria resulting in neuroviscer...
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Introduction A patient with familial Mediterranean fever (FMF) in addition to undiagnosed Anklosing Spondylitis (AS) and also having cutaneous leukocytoclastic vasculitis (LV) is presented. Coexistence of FMF with inflammatory disorders including spondyloarthritis and various systemic vasculitides has been reported before. Meanwhile this is the first reported case of FMF, AS, and LV present tog...
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Introduction FMF is associated with pulmonary hypertension(PH) due to amyloidosis. However, clinically overt PH with right-sided heart failure remains a rare event limited to few patients with pulmonary amyloidosis secondary to FMF. We report two cases of FMF patients, with and without amyloidosis, who experienced PH with rightsided heart failure. To our knowledge, this is the first case report...
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