Your QuestionHypolipoproteinemia runs in my family. I can't find much information on this topic. I'd like to know if the symptoms I am experiencing are due to this condition. Who can I talk to?
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Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition. In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified. People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others have developed fatty liver, intestinal fat malabsorption, and neurological problems.
Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood.
Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment.
Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to:
Lecithin acyltransferase deficiency
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Hypolipoproteinemia . MERCK Manuals. 2008; http://www.merck.com/mmhe/sec12/ch157/ch157c.html. Accessed 8/28/2009.
- Yuan B et al.,. Am. J. Hum. Genet. 2000; http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1378026&blobtype=pdf. Accessed 8/28/2009.
- What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.
- Di Leo E, Magnolo L, Bertolotti M, Bourbon M, Carmo Pereira S, Pirisi M, Calandra S, Tarugi P. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. Clin Genet. 2008 Sep;
- Abetalipoproteinemia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed 8/28/2009.
- Chylomicron retention disease. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=chylomicronretentiondisease. Accessed 8/28/2009.