Essential Familial Hyperlipemias

In 1932 Burger and Grutz reported the classic triad of hepatomegaly, xanthomatosis and opaque serum and established the disease entity of hyperlipemia. 

Contrary to the long held opinion that the fat-induced type were the most common form of the disease more recent observations show the carbohydrate-induced variety to be more common (Fredrickson et al. 1963). Under discussion is the existence of further separate subgroups (Kuo and Bassett 1963, Kinsell et al. 1962, and others). From the genetic point of view it is to be emphasized that, whenever familial occurrence has been reported, all the affected individuals with rare exceptions had the same type of disease in that they displayed very similar reactions to the various tests. 

Older observations on famihal occurrence of essential hyperlipemia cannot in most cases definitely be attributed to any of the now ackSaowledged subgroups. Not uncommonly even the separation from hypercholesterolemia is imcertain. 

In heterozygotes of fat-induced hyperlipemia the statistical mean of plasma neutral fat concentration is increased as compared with controls. Clearing after 

The problems in explaining the basic pathogenetic mechanism are well demonstrated by an observation of Fredrickson et al. (1963). In one family with fat-inducible hyperlipemia these authors found an affected girl who in the heparin test showed the expected markedly diminished lipolytic activity, and an equally 

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Fig. 7. Essential familial hyperlipemia of retention type . The parents of the patient are first cousins.

The presently available data can be summarized to indicate that essential familial hyperlipemia describes a heterogeneous group of diseases which includes at least 2, most probably, however, more, according to Kinsell et al. (1962) at least 5, independent genetically determined diseases. 

A peculiar disease entity has been described by Hagberg et al. (1964) under the name of malignant hyperlipemia in infancy . While essential familial hyper-... 

It has become apparent that the syndrome consists of several entities with different pathogeneses. A familial occurrence has been reported for all of these. The diagnosis may be made by a variety of laboratory procedures after differentiation of essential hyperlipemia from secondary hyperlipemias further classification is essential with particular regard to therapy. The basis of treatment are dietary measures which will be significantly different for the various forms. Drug therapy is still experimental. 

Fasoli, a., and A. Cesana Serum lipid and lipoprotein changes after treatment with Atromid in patients with atherosclerosis, essential hyperlipemia and familial hypercholesterolemia. J. Atheroscler. Kes. 3, 475 (1963). 

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