Familial Xanthomatosis Research Articles

DIETARY treatment of essential familial xanthomatosis.

Dietary Treatment of Essential Familial Xanthomatosis Nutrition Reviews, Volume 11, Issue 3, March 1953, Pages 72–73, https://doi.org/10.1111/j.1753-4887.1953.tb01278.x Published: 01 March 1953

The bioplasma concept and body-mind communication systems

The early obstacle in body-mind formulations was Freud's inability to demonstrate dynamic communications from internal organ cells to brain-mind transformations. Hence arose “metapsychology”. This dilemma was Freud's famous “Project” blocked by the “edict” that the brain could not directly influence the pituitary. In 1949 in The Growth Concept of Nervous Integration I stated that the brain did directly influence the pituitary. There I developed equations showing that the brain acted as a force of growth toward its own body while behaving as “computer-composer” outwardly. Guillemin and Schally in separate researches have recently proven the point. Here, using cancer and heart attack dreams capable of forewarning, I describe the tissue-cell “sending system” and the brain's “receiving-transforming” systems. The “sending system” results from the concept of cytoplasm as a true bioplasma of measurable biophysical proportions. It amplifies the already known attributes of the double helix. The brain's “receiving-transforming system” includes prefrontal-temporal lobe interplay integrated with alert-alarm mechanisms (RAS). From 1953 to the present, I have named this system the paraconscious to differentiate it from the previous Freudian systems of consciousness with which the paraconscious co-exists. (Cf. The Image of the Heart (1956) : Psychoanalysis of Heart Attack (1967) and other papers). The paraconscious acts as a “life-process protective barrier” in its discharge of tension in dreams (the “dream-screen”) and as energy-mobilizer against shock. Both forewarning cancer dreams and heart attack dreams can be seen as paraconscious operation. Since 1953–1956 I have stated that heart attack is basic paraconscious injury (now including genetic effects in the arterial bioplasma as in familial xanthomatosis). There is no such thing as a unique “heart attack personality type”. The warning cancer dream and “recovery-from-cancer” dreams show “tearing-apart” of body symmetry and of the sense of reality including gender-reality. Heart attack dreams show severe distortion of the heart's imagery with the familiar “Dr. Jekyll-Mr. Hyde” configuration, including symbols of Self as clever near-animals. Hence the “drive” to fame and wealth at all impossible, magic, near-animal costs. The mathematic biophysical equations of the bioplasma and their implications are in the process of publication in a separate work.

Histochemical studies in Wolman's disease--report of an autopsy case accompanied with a large amount of milky ascites.

This is a case of a male infant who suffered from “Primary familial xanthomatosis with involvement and calcification of adrenals” (Wolman's disease). The clinical symptoms were characteristic hepatosplenomega‐ly, abdominal distention and a large amount of milky ascites. The patient died at the age of 2 1/2 months.X‐ray revealed enlarged, well‐shaped, calcified adrenal glands. Foamy cells in different organs which were observed at autopsy confirmed the diagnosis. On histochemical examination, deposition of a triglyceride‐cholesterol mixture was found in mesenchymal and epithelial cells of the liver, adrenals, spleen, lymph nodes and mucosa of the small intestine.

Reinvestigation of the pathogenesis of familial xanthomatosis through conjoint cytochemical, ultrastructural, and biochemical studies

Autopsy tissues of a patient with Wolman's disease were examined biochemically, cytochemically, and with an electron microscope. In all tissues except brain, lysosomes of the cells of the reticuloendothelial system were filled with droplets of triglycerides and with cholesterol ester crystals. The parenchymal cells of adrenals and liver contained these compounds within large vacuoles which did not appear to be lysosomal in origin but which derived from, or were part of, the smooth and the rough endoplasmic reticulum cisternae. Most lysosomes of parenchymal cells were morphologically normal. Their acid β-glycerophosphatase activity was normal in liver hepatocytes and enhanced in parenchymal cells of the adrenals. These data suggest that an excessive synthesis of lipids rather than a deficiency of lysosomal “acid lipase” is responsible for the disease. However, a partial deficiency in acid lipase was found biochemically in the tissues examined. The apparent contradiction between biochemical and morphological data is discussed by the authors.

Wolman's disease. Roentgen observations in 3 siblings.

Abstract Wolman's disease is a rare familial xanthomatosis resulting in death in early infancy. Diffuse punctate calcifications throughout enlarged, normally-shaped adrenal glands are characteristic of this entity.

Prolonged jaundice as presenting sign of massive adrenal hemorrhage in newborn. Radiographic diagnosis by IVP with total-body opacification.

Abstract The basis of radiographic diagnosis of massive adrenal hemorrhage in newborn infants with abdominal masses and jaundice should be the high-dose intravenous urogram with total-body opacification. This reveals sharply defined avascular adrenal masses, with or without early calcification, that flatten and shift the kidney. Three cases are presented in which jaundice representing hemolysis within a closed space was the striking clinical finding that led to radiographic studies. Differential diagnoses include renal duplication, usually with ectopic ureteroceles, neonatal neuroblastoma, and the rare Wolman's familial xanthomatosis with adrenal calcification.

Deficiency of an acid lipase in Wolman's disease.

PRIMARY familial xanthomatosis with involvement and calcification of the adrenals, affecting three siblings in early infancy, was first described by Abramov, Schorr and Wolman1,2 and further reports have appeared3,4. Failure to thrive, severe malabsorption and hepatosplenomegaly are early manifestations of the disease. Histochemical examination of visceral organs reveals extensive deposition of neutral fat and cholesterol, and the widespread occurrence of foamy lipid-laden cells, while analysis of liver and spleen shows the stored lipids to be chiefly triglycerides and cholesteryl esters.

PRIMARY FAMILIAL XANTHOMATOSIS WITH ADRENAL INVOLVEMENT (WOLMAN'S DISEASE)

An apparently sporadic case of primary familial xanthomatosis with adrenal involvement (Wolman's disease) in a Jewish Israeli infant who died at the age of 3 months is described. Clinically, malabsorption and ileus were prominent. Pathological findings included the usual lipid storage process in the intestines, liver, lungs, spleen, and adrenals; storage in interstitial cells in other organs (heart, aorta, etc.); and evidence of lipid storage in the central and peripheral nervous system. The histochemical findings are believed to suggest that derangement of triglyceride metabolism might be the main feature of the disease.

Xanthomatosis and Coronary Heart Disease

The frequent coexistence of familial xanthomatosis and coronary heart disease has been well established. 1-7 There have been, however, relatively few reports of the pathologic findings in such patients, 1,2,5,6,8,9 and in only two reports 1,9 were the histologic findings reported in any detail. To our knowledge, necropsy studies of affected siblings have not been previously reported. The current findings relate to a sister and brother who died in their teens and belonged to a family previously studied by Curtis and co-workers 10,11 and Wilkinson and associates. 12 This family has been recently reexamined 13 ; the sister died in the interval between the two studies; the brother, during the course of the present survey. Both parents, although hypercholesteremic, are living and healthy. Four of their other children had died suddenly, presumably of xanthomatous heart disease; of the surviving twelve children, seven have hypercholesteremia without xanthomatosis and are clinically healthy. Clinical History and Necropsy Findings of Two Patients Case 1.—The first patient, the sister, was

Estimation of the phospholipid phosphorus turnover time in man: studies in normal individuals, in patients with the nephrotic syndrome and in other types of hyperlipemia.

The purpose of this study is to contribute to an understanding of the mechanism of production of various types of hyperlipemia by comparing the plasma phospholipid turnover time in normal individuals and in patients with elevated plasma lipids. The rate of incorporation of a single tracer dose of P32 labeled carrier-free inorganic phosphate into the plasma phospholipids has been measured and a mathematical procedure described by Zilversmit, Entenman, and Fishler (1) has been used for the calculation of the turnover time of the sum of phospholipid phosphorus contained in the plasma and liver. Results obtained in six normal individuals, in five patients with the nephrotic syndrome and in three patients with hyperlipemia due, respectively, to hypothyroidism, biliary cirrhosis and essential familial xanthomatosis will be presented.

Atherosclerosis and aortic stenosis in hypercholesteremic xanthomatosis.

Among the rarer forms of juvenile heart disease is that which arises in the course of familial xanthomatosis. The following record is presented in some detail not only because of its significance in the development in early life of atherosclerosis and myocardial infarction, but also because of its possible relevance to the pathogenesis of calcific aortic stenosis. REPORT OF A CASE The patient was of Greek parentage but had been born and had spent all of his life in New York City. He was first seen at the New York Hospital on Nov. 17, 1952, and died there at the age of 20 on May 4, 1953. Xanthomas were first noted by his parents when he was 4 years old. Three years later an apical systolic murmur was heard, and his serum cholesterol concentration was found to be 440 mg. per 100 cc. During his boyhood the xanthomas gradually became

Calcific aortic stenosis: Study of serum cholesterol: With observations on calcific aortic stenosis in familial xanthomatosis and hypercholesteremia

The serum cholesterol of eighty-six patients with aortic stenosis, forty-three men and forty-three women, and of sixty-seven patients with chronic rheumatic valvular disease, twenty-two men and forty-five women, was determined. Using Keys' standards, 48.8 per cent of the females and 18.6 per cent of the males with aortic stenosis were hypercholesteremic, whereas of those with chronic rheumatic valvular disease 13.3 per cent of the females and 13.6 per cent of the males were hypercholesteremic. By using standards derived from a study of a random sample of a union population in New York City (The Amalgamated Clothing Workers of America), 53.5 per cent of the females and 27.9 per cent of the males with aortic stenosis were hypercholesteremic; and of those with rheumatic valvular disease 20 per cent of the women and 18.2 per cent of the men were hypercholesteremic. Of the patients with aortic stenosis 70 per cent apparently had had previous rheumatic infection. Three patients with xanthomatosis and hypercholesteremia and one with familial hypercholesteremia who also had aortic stenosis were observed. Only one of these had had rheumatic fever. One was a man aged 20. Our material favors the hypothesis that in persons with hypercholesteremia aortic stenosis may be caused by atherosclerosis of a normal aortic valve, but that in most instances it is caused by a secondary atherosclerosis implanted on aortic cusps scarred by ancient rheumatic infection.

The George E. Brown Memorial Lecture

In this lecture a partial and tentative examination has been made of chemical factors possibly important in the pathogenesis of atherosclerosis. The discussion has centered about four observations concerning the incidence and extent of the disease. The first is that man appears to be unique among mammals in his predisposition; the second, that the condition is seldom if ever seen in the human infant at birth; the third, that healthy women are not likely to develop its complications before the time of the menopause; the fourth, that in man certain maladies and particularly diabetes, familial xanthomatosis, and nephrosis favor early and extensive atheromatous deposits. An attempt has been made to relate present knowledge of lipid composition of the blood to known variations in the degree of predisposition to the disease. This has included scrutiny of observations on concentration of cholesterol and the S f 10-20 bodies of Gofman, on cholesterol-phospholipid ratios and on the distribution of cholesterol between the lipoproteins of plasma. It has been shown that in mammals which never develop spontaneous atherosclerosis the values of all the criteria of concentration and distribution of lipids differ from those of man. Among human beings only the infant at birth has plasma which in its lipid composition closely resembles that of immune mammals. In young women the deviation is less than in other human adults. In groups of patients that display the greatest tendency to the development of atherosclerosis, the plasma lipid patterns differ most widely from those of other mammals. Among survivors of myocardial infarction many but not all display striking abnormalities in every one of the criteria of lipid concentration and distribution. Comparison of the different methods indicates that in survivors of infarction the distribution of cholesterol between the lipoproteins is more constantly disturbed than the other chemical factors. No test however deviates with sufficient constancy to permit its use in the clinical diagnosis either of the presence of atherosclerosis or of a tendency to its development. It has been shown that the lipid patterns in man are not immutable but can be manipulated to a considerable degree. Specifically, it has been demonstrated that the administration of estrogen can convert the highly pathologic patterns of survivors of myocardial infarction to normal adult human values, and that the use of methyl testosterone exaggerates the chemical pathology of myocardial infarction and may even produce deviant patterns in those who have been previously normal. Although the observations which have been reviewed offer strong evidence that predisposition to atherosclerosis is related to deviations in the lipid composition of the blood, they do not establish the chemical hypothesis of pathogenesis. Although at present they lead to no practical applications in therapy, they are regarded as worthy of further investigation with a justifiable hope that greater knowledge may offer new clues to prevention and control.

Genetic studies on coronary atherosclerosis developing after the age of sixty years.

E VIDENCE has accumulated that an error of lipid metabolism is closely related to the process of atherogenesis in man and experimental animals. 1 Many attempts have been made to characterize this disturbance of lipid metabolism. Elevation of the serum cholesterol level, 2 alteration of the cholesterol-phospholipid ratio, 1f-h higher concentrations of giant lipoprotein molecules, 1i,j and abnormal shifts from alpha to beta lipoprotein 1m have been studied. The precise role of each of these factors is still under investigation; each represents a different facet of the faulty lipid metabolism. Our previous studies on patients with coronary artery disease whose symptoms began before the age of 50, as well as on their siblings, 3 and on families with xanthomatosis 4 led to the conclusion that the common factor for patients with coronary atherosclerosis may be a genetically transmitted fault of lipid metabolism manifesting itself as hypercholesteremia. 4 Familial xanthomatosis is the severest form of this inherited disturbance. Many

Evolution of systemic reticuloendotheliosis in childhood

Summary 1. The relationship of acute reticuloendotheliosis (Letterer-Siwe's type) to chronic reticuloendotheliosis (Hand-Schuller-Christian's and eosinophilic types) has been discussed. 2. It has been suggested that Hand-Schuller-Christian's disease be removed from the chapter of hereditary lipoidoses (Gaucher and Niemann-Pick) and to fill this gap with hyper-cholesteremic familial xanthomatosis (xanthoma tuberosum). 3. Cholesterosis has ben discussed and reasons have been brought forward as to why this process should be termed cholesterol degeneration. 4. An attempt has been made to define the term of reticuloendotheliosis as accurately as possible. 5. Reticuloendotheliosis with leucemic response has been discussed. A new form of systemic reticuloendotheliosis characterized by xanthomatosis and leucemic phenomena has been described in detail and has been classified with the known types of this condition. 6. The literature concerning the relationship of the different types of systemic reticuloendotheliosis has been reviewed.

GENETICS OF ATHEROSCLEROSIS

In a previous report 1 attention was called to the fact that familial xanthomatosis is by no means a rare disorder. It has long been so regarded only because its two most striking external manifestations, xanthoma tuberosum and xanthoma tendinosum, are met with infrequently. It was also pointed out that a close relation exists between this hereditary disorder and atherosclerosis. The present study enlarges and completes our data dealing with xanthomatous families and links the results with those of a previous investigation, 2 in which patients with coronary artery disease were studied for evidence of disturbed lipid metabolism. FAMILIAL XANTHOMATOSIS Thirty-Five Families and Twenty-Nine Additional Persons with Xanthomatosis During the past few years in which we have searched patients for stigmas of xanthomatous disease, we have encountered 64 persons (index cases) with this hereditary disorder and have studied 137 members of the families of 35 of these patients. In the

FAMILIAL XANTHOMATOSIS

British Journal of DermatologyVolume 55, Issue 12 p. 289-293 FAMILIAL XANTHOMATOSIS J. C. SWANSON M.A., M.B., B.Ch.Camb., J. C. SWANSON M.A., M.B., B.Ch.Camb. Late House Surgeon to the Chelmsford and Essex Hospital.Search for more papers by this author J. C. SWANSON M.A., M.B., B.Ch.Camb., J. C. SWANSON M.A., M.B., B.Ch.Camb. Late House Surgeon to the Chelmsford and Essex Hospital.Search for more papers by this author First published: December 1943 https://doi.org/10.1111/j.1365-2133.1943.tb10723.xCitations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume55, Issue12December 1943Pages 289-293 RelatedInformation