Question: abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks

Reference:
 Abetalipoproteinemia Bassen Kornzweig syndrome Microsomal triglyceride transfer protein deficiency disease Microsomal triglyceride transfer protein deficiency Bassen Kornzweig syndrome Microsomal triglyceride transfer protein deficiency disease Microsomal triglyceride transfer protein deficiency ABL Abetalipoproteinemia neuropathy Apolipoprotein B deficiency Betalipoprotein deficiency disease Congenital betalipoprotein deficiency syndrome MTP deficiency Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia See More Summary Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. [1] Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia ; and an eye disorder called retinitis pigmentosa. [1] [2] Most of the symptoms are due to defects in the absorption and transport of vitamin E. [2] Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. [3] Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death. [2] Symptoms The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include: failure to thrive in infancy digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools) abnormal, star-shaped red blood cells (acanthocytosis) nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy ; poor muscle coordination; ataxia ; and intention tremors eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life[1][2] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Malabsorption Intestinal malabsorption 0002024 30%-79% of people have these symptoms Abnormality of retinal pigmentation 0007703 Ataxia 0001251 Muscular hypotonia Low or weak muscle tone 0001252 Reduced tendon reflexes 0001315 5%-29% of people have these symptoms Visual impairment Impaired vision Loss of eyesight Poor vision 0000505 Percent of people who have these symptoms is not available through HPO Abetalipoproteinemia 0008181 Acanthocytosis 0001927 Autosomal recessive inheritance 0000007 CNS demyelination 0007305 Fat malabsorption 0002630 Peripheral demyelination 0011096 Retinal degeneration Retina degeneration 0000546 Retinopathy Noninflammatory retina disease 0000488 Showing of Cause Abetalipoproteinemia is caused by changes ( mutations ) in the MTTP gene . The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people. [1] Inheritance Abetalipoproteinemia is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier . Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier Diagnosis The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Prenatal testing may be available for pregnancies at increased risk if the mutations in the family have been identified. Treatment A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended. [3] [2] Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet. [3] Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist , hepatologist , ophthalmologist , and neurologist . [2] Prognosis The long-term outlook ( prognosis ) is reasonably good for most people who are diagnosed and treated early. [2] However, how well each person does depends on the amount of brain and nervous system problems. [3] Therefore, the prognosis can vary. [5] People with prolonged vitamin deficiency, especially of vitamin E, may develop very limiting ataxia and gait disturbances. Some people may develop retinal degeneration and blindness. [2] Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet Differential diagnoses include metabolic diseases with hepatic overload, with steatosis and/or hepatomegaly, atypical diseases of the central and peripheral nervous system, and secondary causes of hypocholesterolemia (iatrogenic or systemic). Visit the Orphanet disease page for more information. 

Answer: Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended. Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet. Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist , hepatologist , ophthalmologist , and neurologist .