Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia
نویسندگان
چکیده
منابع مشابه
Two Case Reports of Familial Chylomicronemia Syndrome
Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
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Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of Quebecois, Christian Lebanese and Dutch South Afrikaner extraction. HeFH is characterized by cholesterol deposits affecting the corneas, eyelids and extensor tendons; elevated plasma concentrations of low-density lipop...
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OBJECTIVE The phenotypic expression of partial lipodystrophy is present in two familial syndromes: familial partial lipodystrophy type 1 (FPLD1), with fat loss from the extremities, and central obesity and FPLD type 2, with fat loss from the extremities, abdomen, and thorax. The latter disorder is associated with mutations in the LMNA gene. FPLD1 is thought to be rare. Here, we report 13 subjec...
متن کاملFamilial hyperuricaemia and hypertriglyceridaemia.
An association of gout with elevated levels of plasma lipids is well documented (Barlow, 1968; Berkowitz, 1964; Feldman and Wallace, 1964). Conversely, patients with primary hyperlipoproteinaemia often have a raised plasma urate (Harris-Jones, 1957) and occasionally develop secondary gout (Strejcek and Kucerova, 1969). The mechanism of this interrelationship is not known but, as there is also e...
متن کاملManagement of severe hypertriglyceridaemia.
Diagnostic approach to and management of SHTG are not always straightforward and specialist knowledge is required, particularly with the expected increase in the rates of SHTG associated with obesity and diabetes epidemics. We hope that this article will prove helpful for physicians caring for such patients. Their management may be guided by our recommendations that are shown in Table 2.
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ژورنال
عنوان ژورنال: Journal of Internal Medicine
سال: 2020
ISSN: 0954-6820,1365-2796
DOI: 10.1111/joim.13016