Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022116 (ischemia)
 91,303 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fibromuscular Dysplasia (FMD) is &ldquo;an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries&rdquo; (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive. While familial cases are rare (<5%) in contemporary FMD registries, there is evidence in favour of the existence of multiple genetic factors involved in this vascular disease. Recent collaborative efforts allowed the identification of a first genetic locus associated with FMD. This intronic variant located in the phosphatase and actin regulator 1 gene (PHACTR1) may influence the transcription activity of the endothelin-1 gene (EDN1) located nearby on chromosome 6. Interestingly, the PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease. National and international registries of FMD patients, with deep and harmonised phenotypic and genetic characterisation, are expected to be instrumental to improve our understanding of the genetic basis and pathophysiology of this intriguing vascular disease.
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PMID:Genomics of Fibromuscular Dysplasia. 2988 69

Fibromuscular dysplasia (FMD) is a nonatherosclerotic disease that generally affects medium-sized arteries. The distribution typically involves the renal, extracranial carotid/vertebral, and iliac arteries. FMD in other vascular beds is rare. We herein present the case of a 47-year-old female with rapid-onset bilateral digital ischemia. Initial differential diagnosis included vasospastic disorders and vasculitis. An upper extremity arteriogram was suggestive of ulnar and radial FMD. Percutaneous intervention was not successful, and the patient was managed conservatively with symptomatic improvement. This case highlights the important diagnostic and therapeutic considerations in patients with less common etiologies of upper extremity ischemia.
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PMID:An Unusual Case of Bilateral Upper Extremity Ischemia Caused by Forearm Vessel Fibromuscular Dysplasia. 3050 Jun 50


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