Abetalipoproteinemia
| Classification according to ICD-10 | |
|---|---|
| E78.6 |
Lipoprotein deficiency Includes: A-beta lipoproteinemia, |
| ICD-10 online (WHO version 2019) | |
The abetalipoproteinemia is a very rare congenital metabolic disorder ( dyslipidemia ) with a hypolipoproteinemia (reduction of lipoproteins in the blood). Here chylomicrons (lipoprotein particles), VLDL, IDL and LDL in the blood plasma are greatly reduced.
Synonyms are: acanthocytosis; Bassen-Kornzweig disease; Bassen-Kornzweig syndrome; Hypobetalipoproteinemia, familial homozygous
The name refers to the authors of the first description from 1950 by the American doctors Frank Albert Bassen (1903 -) and Abraham Leon Kornzweig (1900 -).
distribution
The frequency is given as less than 1 in 1,000,000, so far about 100 people have been reported. Inheritance is autosomal - recessive .
root cause
Cause is a mutation in one on chromosome 4 gene locus lying q22-q24 gene encoding a subunit of, microsomal triglyceride transfer protein (MTP) encoding . This leads to rapid catabolism of apolipoproteins (ApoB). The ApoB gene is not affected.
Clinical manifestations
Clinical criteria are:
- Manifestation as early as the newborn
- disturbed fat absorption from the small intestine with steatorrhea
- Malabsorption syndrome
- Vomiting , failure to thrive to the point of loss of appetite
- Short stature
- various progressive neurological symptoms such as hyporeflexia to areflexia , intention tremor and muscle atrophy to paresis
- mental retardation in about 30%
- Retinopathia pigmentosa (pigment degeneration of the retina)
- tapetoretinal degeneration
- Myocardial fibrosis, arrhythmia
- Kyphoscoliosis , archesus
diagnosis
In the laboratory diagnostics to allow formation of echinocytes and acanthocytes demonstrate reduction of cholesterol (hypocholesteremia) of triglycerides (Hypogtriglyceridämie) of phosphatides (Hypophophatidämie) and lack of chylomicrons notice.
Differential diagnosis
Metabolic diseases with steatosis of the liver and / or hepatomegaly , atypical diseases of the central and peripheral nervous system and other causes of hypercholesterolemia must be distinguished. The Huntington's acanthocytosis must be distinguished.
literature
- FK Welty: Hypobetalipoproteinemia and abetalipoproteinemia. In: Current opinion in lipidology. Vol. 25, No. 3, June 2014, pp. 161-168, doi : 10.1097 / MOL.0000000000000072 , PMID 24751931 , PMC 4465983 (free full text) (review).
- MB Nasr, C. Symeonidis, DG Mikropoulos, N. Kozeis, I. Tsinopoulos, SA Dimitrakos, AG Konstas: Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. In: European journal of ophthalmology. Vol. 21, No. 5, 2011 Sep-Oct, pp. 674-676, PMID 21484752 .
- M. Richter, W. Licht, HG Posselt, SW Bender: Abetalipoproteinemia. In: Monthly Pediatric: Organ of the German Society for Pediatrics. Vol. 129, No. 11, November 1981, pp. 651-653, PMID 7322143 .
Individual evidence
- ^ R. Zamel, R. Khan, RL Pollex, RA Hegele: Abetalipoproteinemia: two case reports and literature review. In: Orphanet Journal of Rare Diseases. Vol. 3, July 2008, p. 19, doi : 10.1186 / 1750-1172-3-19 , PMID 18611256 , PMC 2467409 (free full text) (review).
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ FA Bassen, AL grain branch: malformation of the erythrocytes in a case of atypical retinitis pigmentosa. In: Blood. Vol. 5, No. 4, April 1950, pp. 381-387, PMID 15411425 .
- ↑ a b Abetalipoproteinemia. In: Orphanet (Rare Disease Database).
- ↑ Abetalipoproteinemia. In: Online Mendelian Inheritance in Man . (English)
