Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute anterior ischemic optic neuropathy (AION) is a disabling disease which impairs visual functions. AION is characterized by ischemic injury of the optic nerve caused by hypoperfusion in the short posterior ciliary arteries supplying the optic nerve head. AION is a complex multi-factorial disease and is difficult to diagnose based on clinical symptoms and signs alone. We describe the case of a 54-year-old patient affected by AION, with only known risk factors were PAI-1 4G/5G and Factor V Leiden mutation with hyperlipidaemia (Ref. 36). Full Text (Free, PDF) www.bmj.sk.
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PMID:Anterior ischemic optic neuropathy comorbid with Factor V Leiden and PAI-1 4G/5G mutation. 1950 43

Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Examination revealed a left anterior hemiblock, sensorimotor neuropathy, extensive myotonic discharges on needle electromyography (EMG) and a CCTG-expansion of 134 bp on the ZNF9 gene. The family history was positive for hyper-CKemia and muscle weakness. In addition, over the previous years, she had developed vesico-ureteral reflux, cutaneous melanoma, renal cysts, cervix dysplasias, thrombocytosis, cataracts, arterial hypertension, heterozygous Factor V Leiden mutation, cholecystolithiasis, multiple ovarial cysts and vitamin D deficiency. Asymptomatic, long-term hyper-CKemia in association with multisystem disease should raise the suspicion of a MD2. Rare manifestations of MD2 may be thrombocytosis, hyperuricemia, vesico-ureteral reflux, gallstones, hypertension and cyst formation. In patients with asymptomatic hyper-CKemia, needle EMG should be considered. Myotonic dystrophy type 2 may take a mild course over many years if the CCTG-expansion is short.
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PMID:Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion. 3098 23