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

The two cases described exhibited elastopathy associated with arterial stenosis (case 1) or aneurysms (case 2). The first was clearly a case of elastic pseudo-xanthoma with characteristic cutaneous lesions associated with retinal angioid streaks and severe arterial lesions, notably stenosis of the vertebral arteries (especially the left) causing disorders in the mechanism of balance. There were, in addition, mild diabetes, hyperlipidaemia and abnormal cutaneous pigmentation. The second patient, an African, had been hospitalised for an optochiasmatic syndrome which further investigation, notably by arteriography, indicated was caused by compression of the visual pathways due to massive bilateral carotid aneurysms. The patient had molluscoid pseudo-tumours of the axillae and she reported that her father was in the same condition. Although in the first case, cutaneous biopsy enabled diagnosis of systematized elastorrhexis to be confirmed, histological investigation in the second case revealed mainly hyaline sclerosis of the deep dermal layer. The diagnosis of Ehlers-Danlos disease, suggested for this second patient, could not be confirmed. These two cases emphasize the possibility of various neurological disorders occurring in the course of dystrophy of the connectivo elastic tissue.
 ...
PMID:[Cutaneous elastopathy and vascular anomalies associated with neurological disorders. Apropos of 2 cases]. 120 57

Bilateral corneal opacities are the first clinical sign of a familial lecithin-cholesterol acyltransferase (LCAT) deficiency and can be found in early childhood. Familial LCAT deficiency includes the following typical clinical findings: corneal opacification, proteinuria, anemia, turbid or milky plasma, very low plasma HDL, very low plasma cholesterol esters and lysolecithin, hyperlipidemia, and very low or absent LCAT enzymatic activity. Several patients have had fundus findings including angioid streaks and papilledema. This disease is autosomal recessive and has been reported in a total of 19 patients previously. Progression of the disease has resulted in premature atherosclerosis, renal failure and transplantation, decreasing visual acuity and corneal transplantation.
 ...
PMID:Corneal opacification and lecithin-cholesterol acyltransferase (LCAT) deficiency: a case report. 647 90