Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multiple cutaneous and uterine leiomyomatosis, also known as Reed's syndrome, is an autosomal dominant genetic condition. Affected individuals have an increased predisposition to develop benign smooth muscle tumors (leiomyomas) in the skin and uterus. Affected females frequently develop uterine leiomyomas (fibroids) that are larger and more numerous and emerge earlier than those in the general population. Subsets of these patients are at risk for renal cell cancer and have been determined to have mutations in the fumarate hydratase gene. In individuals or families without renal cell cancer, the syndrome may be referred to as multiple cutaneous leiomyomatosis or multiple cutaneous and uterine leiomyomatosis. The term hereditary leiomyomatosis and renal cell cancer refers to families with an increased prevalence of smooth muscle tumors and renal cell cancer as a result of the fumarate hydratase genetic defect. In this article, the authors introduce a case of a young woman who presented with multiple, intermittently painful, cutaneous leiomyomas and a history of large uterine fibroids previously causing anemia and requiring surgical intervention. Further investigation revealed a family history of mutations in the fumarate hydratase gene. The patient is currently being monitored by the National Institutes of Health.
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PMID:Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas. 2219 Oct 7

Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous findings, however, delays in diagnosis are very common in patients with isolated uterine findings. We present a case series of 2 sisters in their 20s who presented with isolated uterine leiomyomas and were found to carry a novel mutation for the fumarate hydratase gene. One patient was referred for treatment of infertility and recurrent miscarriages and the other was referred for acute symptomatic anemia due to myomas. Prompt diagnosis of hereditary leiomyomatosis renal cell cancer was made due to a high index of clinical suspicion based on early onset disease and familial clustering as well as characteristic pathologic findings on uterine leiomyoma surgical specimen. Timely diagnosis not only allowed for genetic counseling and renal cancer surveillance, but also for fertility counseling given the increased morbidity associated with uterine leiomyoma due to hereditary leiomyomatosis and renal cell cancer syndrome.
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PMID:Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. 2870 Apr 32