Familial hypo-β-lipoproteinemia

Mars, Harold; Lewis, Lena A.; Robertson, Abel L.; Butkus, Antanas; Williams, Guy H.

doi:10.1016/0002-9343(69)90089-8

Cited by 92 publications

(12 citation statements)

References 30 publications

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“…An underlying defect of fat transport across the smallintestinal mucosa was probably responsible for the steatorrhoea remaining after treatment with tetracycline and a lactose-free diet, as fat loading of enterocytes was apparent with virtual absence of fat from the lamina propria. This histological appearance is very typical of the Bassen-Kornzweig syndrome with abetalipoproteinaemia and has also been described in hypobetalipoproteinaemia (Mars et al, 1969;Cottrill et al, 1974). The endoscopic and stereomicroscopic appearances of the mucosa have not been described previously, although they are striking and presumably reflect the fat-loading of the villous enterocytes.…”

Section: Comment On Present Casesupporting

confidence: 67%

“…However, of the 17 families reported (Kuo and Bassett, 1962;van Buchem et al, 1966;Critchley et al, 1968;Mars et al, 1969;Richet et al, 1969;Mawatari et al, 1972;Aggerbeck et al, 1974;Cottrill et al, 1974;Biemer and McCammon, 1975;Glueck et al, 1976;Sigurdsson et al, 1977), five have one or two members with neurological disease and three of these families have a member with additional features of the Bassen-Kornzweig syndrome: one had ataxia, acanthocytosis, and fat-loading of jejunal enterocytes (Mars et al, 1969); one had neuropathy, acanthocytosis, steatorrhoea, and retinitis (Kuo and Bassett, 1962); and one had ataxia and acanthocytosis (Critchley et al, 1968). Since both hypo-and a-betalipoproteinaemia have been described within three families (Salt et al, 1960;Cottrill, et al, 1974;Biemer and McCammon, 1975), hypobetalipoproteinaemia may 'Present address: Lincoln County Hospital, Lincoln LN2 SQY.…”

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confidence: 99%

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Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Scott¹,

Miller²,

Losowsky³

1979

Gut

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SUMMARY A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.Absent serum P-lipoprotein (abetalipoproteinaemia) is usually associated with the Bassen-Kornzweig syndrome (Bassen and Kornzweig, 1950) which, in its complete form, is characterised by a Friedreich's type ataxia, acanthocytosis, steatorrhoea, fat-loading of the small-intestinal enterocytes, and atypical retinitis pigmentosa.

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Section: Comment On Present Casesupporting

confidence: 67%

mentioning

confidence: 99%

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Scott¹,

Miller²,

Losowsky³

1979

Gut

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“…The neurological and systemic manifestations separate this syndrome from the ataxic disorder of early life associated with abetalipoproteinaemia (Salt et al, 1960), and from familial hypo-betalipoproteinaemia (Mars et al, 1969). This report describes the clinical and laboratory findings in a third individual, the first to be recognized in the United Kingdom.…”

Section: Introductionmentioning

confidence: 84%

Acanthocytosis, normolipoproteinaemia and multiple tics

Critchley

Nicholson

Betts

et al. 1970

Postgraduate Medical Journal

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Summary A chronic degenerative neurological disorder is described which is characterized by tics, grimacing, involuntary movements, a severe disturbance of swallowing and a concurrent malformation of the erythrocytes. This condition is clearly different from familial hypo-betalipoproteinaemia and abetalipoproteinaemia, the two previously described neurological disorders associated with abnormal red cells.

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“…In one patient there was severe neurological disease (Mars et al, 1969), whereas the other patients and their families were symptom free. The condition is inherited as an autosomal dominant.…”

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confidence: 91%

“…, one French (Richet et al, 1969), and two American families (Mars et al, 1969;Levy et al, 1970). In one patient there was severe neurological disease (Mars et al, 1969), whereas the other patients and their families were symptom free.…”

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confidence: 99%

Familial hypo- -lipoproteinaemia

Fosbrooke¹,

Choksey²,

Wharton³

1973

Archives of Disease in Childhood

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. (1973). Archives of Disease in Childhood, 48, 729. Familial hypo-fl-lipoproteinaemia. A 2-year-old boy investigated because of small stature, had low serum levels of cholesterol (74 mg/100 ml) and ,B-lipoprotein cholesterol (20 mg/100 ml). Faecal fat, jejunal biopsy, red cell morphology, and plasma growth hormone and thyroxine were normal, and it was concluded that the small stature was hereditary.A family study showed a similar lipoprotein abnormality in the patient's mother; her serum cholesterol was 83 mg/100 ml and ,B-lipoprotein cholesterol 34 mg/100 ml. Analysis of the ,8-lipoprotein fraction in both child and mother showed it to have an abnormal lipid composition; the cholesterol/phospholipid ratio was 1 0 and 0 8, respectively (normal 1 * 7), and within the phospholipid components the proportion of sphingomyelin was markedly reduced (11% and 5%, normal 30O). These findings differ from previous reports that the composition of 3-lipoprotein is normal. Familial hypo-,B-lipoproteinaemia has been shown to be inherited as an autosomal dominant, and our findings are in agreement.

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Familial hypo-β-lipoproteinemia

Cited by 92 publications

References 30 publications

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Acanthocytosis, normolipoproteinaemia and multiple tics

Familial hypo- -lipoproteinaemia

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