Matches in SemOpenAlex for { <https://semopenalex.org/work/W2531311132> ?p ?o ?g. }
- W2531311132 endingPage "23.e1" @default.
- W2531311132 startingPage "12" @default.
- W2531311132 abstract "Familial dysbetalipoproteinemia (FD) is a genetic disorder of lipoprotein metabolism associated with an increased risk for premature cardiovascular disease. In about 10% of the cases, FD is caused by autosomal dominant mutations in the apolipoprotein E gene (APOE). This review article provides a pathophysiological framework for autosomal dominant FD (ADFD) and discusses diagnostic challenges and therapeutic options. The clinical presentation and diagnostic work-up of ADFD are illustrated by two cases: a male with premature coronary artery disease and a p.K164Q mutation in APOE and a female with mixed hyperlipidemia and a p.R154H mutation in APOE. ADFD is characterized by a fasting and postprandial mixed hyperlipidemia due to increased remnants. Remnants are hepatically cleared by the low-density lipoprotein receptor and the heparan sulfate proteoglycan receptor (HSPG-R). Development of FD is associated with secondary factors like insulin resistance that lead to HSPG-R degradation through sulfatase 2 activation. Diagnostic challenges in ADFD are related to the clinical presentation; lipid phenotype; dominant inheritance pattern; genotyping; and possible misdiagnosis as familial hypercholesterolemia. FD patients respond well to lifestyle changes and to combination therapy with statins and fibrates. To conclude, diagnosing ADFD is important to adequately treat patients and their family members. In patients presenting with mixed hyperlipidemia, (autosomal dominant) FD should be considered as part of the diagnostic work up." @default.
- W2531311132 created "2016-10-21" @default.
- W2531311132 creator A5032480026 @default.
- W2531311132 creator A5035047137 @default.
- W2531311132 creator A5050157754 @default.
- W2531311132 creator A5073320977 @default.
- W2531311132 date "2017-01-01" @default.
- W2531311132 modified "2023-10-14" @default.
- W2531311132 title "Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy" @default.
- W2531311132 cites W151918696 @default.
- W2531311132 cites W1537162160 @default.
- W2531311132 cites W1547908284 @default.
- W2531311132 cites W1548248031 @default.
- W2531311132 cites W1577502861 @default.
- W2531311132 cites W1582053154 @default.
- W2531311132 cites W1585856114 @default.
- W2531311132 cites W1597396112 @default.
- W2531311132 cites W1733825577 @default.
- W2531311132 cites W1956621685 @default.
- W2531311132 cites W1966190991 @default.
- W2531311132 cites W1966877648 @default.
- W2531311132 cites W1969349787 @default.
- W2531311132 cites W1971360302 @default.
- W2531311132 cites W1971583342 @default.
- W2531311132 cites W1972661406 @default.
- W2531311132 cites W1978370459 @default.
- W2531311132 cites W1978899417 @default.
- W2531311132 cites W1979447150 @default.
- W2531311132 cites W1984578526 @default.
- W2531311132 cites W1987570769 @default.
- W2531311132 cites W1992018655 @default.
- W2531311132 cites W1993378131 @default.
- W2531311132 cites W1999300900 @default.
- W2531311132 cites W2004226331 @default.
- W2531311132 cites W2004353849 @default.
- W2531311132 cites W2006519183 @default.
- W2531311132 cites W2006701157 @default.
- W2531311132 cites W2007908725 @default.
- W2531311132 cites W2009013500 @default.
- W2531311132 cites W2013557623 @default.
- W2531311132 cites W2020737544 @default.
- W2531311132 cites W2032257463 @default.
- W2531311132 cites W2033954990 @default.
- W2531311132 cites W2037377195 @default.
- W2531311132 cites W2041581071 @default.
- W2531311132 cites W2043301782 @default.
- W2531311132 cites W2047049901 @default.
- W2531311132 cites W2049286970 @default.
- W2531311132 cites W2050507556 @default.
- W2531311132 cites W2051075384 @default.
- W2531311132 cites W2054345063 @default.
- W2531311132 cites W2054797302 @default.
- W2531311132 cites W2055138129 @default.
- W2531311132 cites W2056048392 @default.
- W2531311132 cites W2056653601 @default.
- W2531311132 cites W2058116753 @default.
- W2531311132 cites W2058222155 @default.
- W2531311132 cites W2059802803 @default.
- W2531311132 cites W2062089093 @default.
- W2531311132 cites W2063987466 @default.
- W2531311132 cites W2071298734 @default.
- W2531311132 cites W2072684190 @default.
- W2531311132 cites W2073443118 @default.
- W2531311132 cites W2074727767 @default.
- W2531311132 cites W2080563134 @default.
- W2531311132 cites W2081834793 @default.
- W2531311132 cites W2082548951 @default.
- W2531311132 cites W2085523397 @default.
- W2531311132 cites W2085921423 @default.
- W2531311132 cites W2102949521 @default.
- W2531311132 cites W2105918612 @default.
- W2531311132 cites W2106611664 @default.
- W2531311132 cites W2107802703 @default.
- W2531311132 cites W2107874108 @default.
- W2531311132 cites W2108169164 @default.
- W2531311132 cites W2109503441 @default.
- W2531311132 cites W2112251329 @default.
- W2531311132 cites W2114888422 @default.
- W2531311132 cites W2115354652 @default.
- W2531311132 cites W2115509231 @default.
- W2531311132 cites W2116404316 @default.
- W2531311132 cites W2116421103 @default.
- W2531311132 cites W2117950105 @default.
- W2531311132 cites W2119332560 @default.
- W2531311132 cites W2121101037 @default.
- W2531311132 cites W2121423297 @default.
- W2531311132 cites W2127226744 @default.
- W2531311132 cites W2129595288 @default.
- W2531311132 cites W2129883875 @default.
- W2531311132 cites W2130175879 @default.
- W2531311132 cites W2132023886 @default.
- W2531311132 cites W2132940416 @default.
- W2531311132 cites W2139474887 @default.
- W2531311132 cites W2140186620 @default.
- W2531311132 cites W2141041965 @default.
- W2531311132 cites W2142772499 @default.
- W2531311132 cites W2145819586 @default.
- W2531311132 cites W2156066000 @default.