Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides. [uniprot.org]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.ro]

Test characteristics 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) Approximately 100%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Approximately 100%. 2.3 Clinical sensitivity [nature.com]

In this review we present the current information on the genetics and pathophysiology of these disorders affecting either the secretion or the catabolism of ApoB-containing lipoproteins. [unipa.pure.elsevier.com]

• Malnutrition

  HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. [ncbi.nlm.nih.gov]

  In very young children, milk preparations with medium-chain TG may improve diarrhea and correct malnutrition within a few days but tolerance can be a problem. [ojrd.biomedcentral.com]

  E malabsorption results in low tissue stores of vitamin E and leads to the development of degenerative neurologic disease. [5] Secondary causes The secondary causes of hypobetalipoproteinemia include occult malignancy, as well as conditions such as malnutrition [emedicine.medscape.com]

  The more common secondary causes in the hospital setting include cachexia, malabsorption, malnutrition, severe liver disease and hyperthyroidism. [nature.com]

• Anemia

  This defect results in low hdl-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal opacity, hemolytic anemia (anemia, hemolytic), and proteinuria. [icd10data.com]

  Complementation Group A Congenital Heart Diseases (CHD) Fanconi Anemia (FA) FANCC Fanconi Anemia, Complementation Group C Congenital Heart Diseases (CHD) Fanconi Anemia (FA) FANCD2 Fanconi Anemia, Complementation Group D2 Congenital Heart Diseases [bcm.edu]

  […] including involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and weakness of the external muscles of the eye (ophthalmoplegia).Individuals with abetalipoproteinemia usually have a low number of red blood cells (anemia [icdlist.com]

  The 75-year-old proband, the father of the 3 sibs, died of fever of unknown cause, thrombocytopenia, and anemia. He had ataxic movements of the hands and gait disturbance in later life. [bio2rdf.org]

• Steatorrhea

  Patients with primary hypobetalipoproteinemias may manifest a variety of symptoms and signs affecting several organs (steatorrhea, neurological and ophthalmological symptoms, non-alcoholic fatty liver disease) or be asymptomatic. [eurekaselect.com]

  […] containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea [icd9data.com]

  This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). [ Read More ] [icdlist.com]

  Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia. An autosomal recessive disorder of lipid metabolism. [icd10data.com]

  Treatment involves reduction of dietary fat to prevent steatorrhea and supplementation with tocopherol to prevent progression of the neuromuscular and retinal degenerative disease. [ommbid.mhmedical.com]

• Failure to Thrive

  Some people also have digestive problems in childhood, resulting in failure to thrive. FHBL is usually caused by mutations in the APOB gene. In a few cases, it may be caused by mutations in other genes, or the cause may be unknown. [rarediseases.info.nih.gov]

  In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). [ Read More ] [icdlist.com]

  In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). Frequency FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. [medlineplus.gov]

  Whether these people suffer from depression, stroke, failure to thrive, or low steroid hormones cannot necessarily be extrapolated to people who have very low cholesterol due only to diet. [jacknorrisrd.com]

  In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. [ghr.nlm.nih.gov]

• Hepatomegaly

  Abdominal ultrasonography confirmed hepatomegaly and moderated steatosis. [scielo.mec.pt]

  The massive tissue deposition of cholesterol esters results in hepatomegaly; splenomegaly; retinitis pigmentosa; large orange tonsils; and often sensory polyneuropathy. [icd10data.com]

  Hepatomegaly is reported to occur in about 20% of CRD patients. Hepatic steatosis is a well known complication of HBL. However, in CRD, at ultrasonography hepatomegaly and steatosis were detected in a few cases. [ojrd.biomedcentral.com]

• Myopathy

  2 Alpha-B Crystallin-related Fatal Infantile Hypertrophy Myofibrillar Myopathy CSF2RA Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity Idiopathic Pulmonary Fibrosis (IPF) Pulmonary Surfactant Metabolism Dysfunction 4 CSF2RA-Related Pulmonary [bcm.edu]

  Spinocerebellar ataxia with degeneration of the fasciculus cuneatus and fasciculus gracilis, peripheral neuropathy, degenerative pigmentary retinopathy, and ceroid myopathy all appear to be secondary to defects of transport of tocopherol in blood. [ommbid.mhmedical.com]

  Most cases are complicated by retinitis pigmentosa, spinocerebellar ataxia and myopathy. [nature.com]

  Furthermore, more severe neurological degeneration, such as ataxia, myopathy and sensory neuropathy, has been reported in CRD adults 21 and 55 years old [ 20, 28 ]. [ojrd.biomedcentral.com]

• Suggestibility

  Kinetic studies suggest that increased production of apo B-100 may be a common underlying metabolic characteristic. [ommbid.mhmedical.com]

  The ratio of apolipoprotein E 3 to E 2 in his VLDL fraction was 0.93, just below the lower limit of normal, suggesting heterozygosity for E 3 deficiency. Whether or not this contributes to his hypertriglyceridemia remains to be established. Images. [dx.doi.org]

  Values Undetectable LDL-C is highly suggestive of abetalipoproteinemia. Related polyneuropathy may exist in affected individuals. [mayomedicallaboratories.com]

  These results suggest that the APOB V703I mutation alone does not cause the FHBL phenotype. However, it is possible that it has a contributory role to a more aggressive phenotype in the presence of APOB R463W. © 2012 S. [karger.com]

  And there should be some caution here in suggesting this is proof that genetically low LDL increases life expectancy by 5 to 12 years. [jacknorrisrd.com]

• Ataxia

  Showing of 7 | 5%-29% of people have these symptoms Rod-cone dystrophy 0000510 Percent of people who have these symptoms is not available through HPO Acanthocytosis 0001927 Ataxia 0001251 Autosomal recessive inheritance 0000007 Decreased LDL cholesterol [rarediseases.info.nih.gov]

  […] apob containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia [icd9data.com]

  Apo A-I Giessen variant Apo A-I Marburg variant Apo A-I Milano variant Apo A-I variant fisheye-like syndrome ApoA-I Munster variant 1 ApoA-I Munster variant 2 ApoA-I Munster variant 3 Apolipoprotein A-I deficiency Apolipoprotein A-I variant disorder Ataxia [icdlist.com]

  Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia. An autosomal recessive disorder of lipid metabolism. [icd10data.com]

  [pubmed:178979] Familial hypobetalipoproteinaemia complicated by cerebellar ataxia and steatocystoma multiplex. [pubmed:1997645] Familial hypobetalipoproteinemia: absence of atherosclerosis in a postmortem study. [bio2rdf.org]

• Peripheral Neuropathy

  neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired Presence of abnormally low levels of lipoproteins in the serum Applies To Abetalipoproteinemia Bassen-Kornzweig syndrome High-density lipoid [icd9data.com]

  Spinocerebellar ataxia with degeneration of the fasciculus cuneatus and fasciculus gracilis, peripheral neuropathy, degenerative pigmentary retinopathy, and ceroid myopathy all appear to be secondary to defects of transport of tocopherol in blood. [ommbid.mhmedical.com]

  They can also experience a loss of certain reflexes, impaired speech (dysarthria), tremors or other involuntary movements (motor tics), a loss of sensation in the extremities (peripheral neuropathy), or muscle weakness. [icdlist.com]

  neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired. [icd10data.com]

  Patients develop peripheral neuropathy. Loss of position and vibration sense occurs. Intention tremors develop. Ophthalmologic symptoms Retinitis pigmentosa occurs in adolescents. Symptoms begin with decreased night and color vision. [emedicine.medscape.com]

• Stroke

  Bhatia M, Howard SC, Clark TG, et al ; Apolipoproteins as predictors of ischaemic stroke in patients with a previous transient ischaemic attack. Cerebrovasc Dis. 200621(5-6):323-8. Epub 2006 Feb 14. [patient.info]

  Follow-up to Low Cholesterol Part 1: Stroke and Depression. [jacknorrisrd.com]

  Blackburn Chair in Cardiovascular Research, and operating grants from the CIHR (MOP-13430, MOP-79523, CTP-79853), the Heart and Stroke Foundation of Ontario (NA-6059, T-6018, PRG-4854), the Pfizer Jean Davignon Distinguished Cardiovascular and Metabolic [nature.com]

  It is interesting that individuals in the lowest LDL-C group had the highest rate of coronary artery disease and stroke ( Table 1 ). [journals.plos.org]

• Cerebellar Ataxia

  [pubmed:178979] Familial hypobetalipoproteinaemia complicated by cerebellar ataxia and steatocystoma multiplex. [pubmed:1997645] Familial hypobetalipoproteinemia: absence of atherosclerosis in a postmortem study. [bio2rdf.org]

Heterozygotes are usually identified in adulthood after routine blood work, lipid screening, or a workup for gastrointestinal (GI) or neurologic disorders. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. [emedicine.medscape.com]

• Hypotriglyceridemia

  Back to: « Hypobetalipoproteinemia Symptoms of Hypobetalipoproteinemia, familial, type 2 Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of metabolism/homeostasis Hypobetalipoproteinemia Hypotriglyceridemia Genetics of Hypobetalipoproteinemia [familydiagnosis.com]

  Name Hypobetalipoproteinemia, Familial, 2 Synonyms HYPOLIPIDEMIA, FAMILIAL, COMBINED Classification unclassified Phenotypes Autosomal dominant inheritance ; Autosomal recessive inheritance ; Decreased LDL cholesterol concentration ; Hypotriglyceridemia [mousephenotype.org]

  Affiliated tissues include liver, and related phenotypes are hypotriglyceridemia and decreased ldl cholesterol concentration Disease Ontology : 12 A hypobetalipoproteinemia that has material basis in homozygous or compound heterozygous mutation in the [malacards.org]

  However, he had persistent elevation of transaminases and his lipid profile revealed low total cholesterol, LDL-cholesterol and VLDLcholesterol levels, hypotriglyceridemia with low apolipoprotein (Apo) B levels ( Table 1 ). [scielo.mec.pt]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.ro]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Understanding hypocholesterolemia and the underlying molecular basis is of crucial importance since this may provide new insights in the treatment of hypercholesterolemia and cardiovascular disease. [eurekaselect.com]

The long-term outlook ( prognosis ) for people with familial hypobetalipoproteinemia (FHBL) can vary considerably. [rarediseases.info.nih.gov]

The patient was educated about the diagnosis and prognosis and was placed back on the regimen of fish oil and fenofibrate, 160 mg daily. [consultant360.com]

[…] diseases is as follows: [23] Prevalence Abetalipoproteinemia Familial Hypobetalipoproteinemia 1:1000 – 1:3000 Chylomicron Retention Disease Very rare Familial Combined Hypolipidemia Very rare PCSK9 Deficiency Very rare Natural History, complications and Prognosis [wikidoc.org]

Clark JM, Brancati FL, Diehl AM (2003) The prevalence and etiology of elevated aminotransferase levels in the United States. Am J Gastroenterol 98: 960–967. View Article Google Scholar 27. NHANES Laboratory procedural manual. 28. [journals.plos.org]

Figure 1 Etiology of familial hypocholesterolemia in childhood depending on lipid profile. [ojrd.biomedcentral.com]

In parallel to this genetic approach, a regional epidemiological analysis will be performed to identify some geographical clusters with a high prevalence of the disease, as developed in the project named VaCaRMe (for Vascular and Cardiac, Respiratory [clinicaltrials.gov]

Worldwide racial and ethnic distribution of [[alpha].sub.1]-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 2002;122:1818-29. (17.) Lomas DA, Mahadeva R. [thefreelibrary.com]

Similar cutoffs have been used in both adolescent and adult epidemiological studies [22], [24] – [26]. [journals.plos.org]

[…] increased lipoprotien lipase activity. [15] Causes The following are the list of causes of primary hypobetalipoproteinemia: Abetalipoproteinemia Familial hypobetalipoproteinemia Chylomicron retention disease PCSK9 deficiency Familial combined hypolipidemia Epidemiology [wikidoc.org]

Epidemiology Frequency United States Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are rare inborn errors of lipoprotein metabolism. ABL occurs in less than 1 in 1 million persons. [emedicine.medscape.com]

Dyslipidemias: Pathophysiology, Evaluation and Management provides a wealth of general and detailed guidelines for the clinical evaluation and management of lipid disorders in adults and children. [books.google.de]

In this review we present the current information on the genetics and pathophysiology of these disorders affecting either the secretion or the catabolism of ApoB-containing lipoproteins. [unipa.pure.elsevier.com]

Louis, MO 63110, USA. [email protected] Abstract We review the genetics and pathophysiology of familial hypobetalipoproteinemia (FHBL), a mildly symptomatic genetically heterogeneous autosomal trait. [ncbi.nlm.nih.gov]

[…] hypertriglyceridemia, type III hyperlipoproteinemia/dysbetalipoproteinemia, or when an accurate gold standard determination of LDL-C is required Diagnosis of familial hypobetalipoproteinemia and abetalipoproteinemia Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Coverage begins with a review of risk factors and prevention, emphasizing lipid abnormalities, hypertension, smoking, diabetes, and obesity. [books.google.com]

For the last twenty years, there has been a growing recognition worldwide of the importance of managing dyslipidemia for the primary and secondary prevention of atherosclerotic vascular disease, especially coronary heart disease. [books.google.de]

Treatment involves reduction of dietary fat to prevent steatorrhea and supplementation with tocopherol to prevent progression of the neuromuscular and retinal degenerative disease. [ommbid.mhmedical.com]

Prevention Primary Prevention As the set of the diseases are rare there are no primary preventive measures. [wikidoc.org]