2024 ICD-10-CM Diagnosis Code E78.6

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• Abetalipoproteinemia
• Abetalipoproteinemia
• Acanthocytosis
• 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 co-occurrent and due to abetalipoproteinemia
• Autonomic neuropathy due to Tangier disease
• Chorea acanthocytosis syndrome
• Familial hypoalphalipoproteinemia
• Familial hypobetalipoproteinemia
• Familial hypobetalipoproteinemia - heterozygous form
• Familial hypobetalipoproteinemia - homozygous form
• Familial hypolipoproteinemia
• Familial lipoprotein deficiency
• Fish-eye disease
• Hereditary acanthocytosis
• Hereditary acanthocytosis
• High density lipoprotein below reference range
• High density lipoprotein deficiency
• Hypoalphalipoproteinemia
• Hypo-beta-lipoproteinemia
• Hypocholesterolemia
• Hypolipoproteinemia
• Inborn error of lipoprotein metabolism
• Inborn error of lipoprotein metabolism
• Inborn error of lipoprotein metabolism
• Inborn error of lipoprotein metabolism
• Inborn error of lipoprotein metabolism
• Inborn error of lipoprotein metabolism
• Lecithin cholesterol acyltransferase deficiency
• Lipoprotein below reference range
• Lipoprotein deficiency disorder
• Low density lipoprotein cholesterol below reference range
• McLeod neuroacanthocytosis syndrome
• Ophthalmoplegia due to abetalipoproteinemia
• Tangier disease

Clinical Information

• Abetalipoproteinemia

  an autosomal recessive disorder of lipid metabolism. it is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (triglycerides; cholesterol esters; phospholipids) and is required in the secretion of beta-lipoproteins (low density lipoproteins or ldl). features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent ldl.

• Hypobetalipoproteinemia, Familial, Apolipoprotein B

  an autosomal dominant disorder of lipid metabolism. it is caused by mutations of apolipoproteins b, main components of chylomicrons and beta-lipoproteins (low density lipoproteins or ldl). features include abnormally low ldl, normal triglyceride level, and dietary fat malabsorption.

• Lecithin Cholesterol Acyltransferase Deficiency

  an autosomal recessive disorder of lipoprotein metabolism caused by mutation of lecithin cholesterol acyltransferase gene. it is characterized by low hdl-cholesterol levels, and the triad of corneal opacities; hemolytic anemia; and proteinuria with renal failure.

• Tangier Disease

  an autosomal recessively inherited disorder caused by mutation of atp-binding cassette transporters involved in cellular cholesterol removal (reverse-cholesterol transport). it is characterized by near absence of alpha-lipoproteins (high-density lipoproteins) in blood. the massive tissue deposition of cholesterol esters results in hepatomegaly; splenomegaly; retinitis pigmentosa; large orange tonsils; and often sensory polyneuropathy. the disorder was first found among inhabitants of tangier island in the chesapeake bay, md.

• Hypoalphalipoproteinemia

  a metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.

• Abetalipoproteinemia

  an autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. it results in multiple vitamin deficiencies. signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.

• ABCA1 wt Allele|ABC-1|ABC1|ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 wt Allele|ATP-Binding Cassette, Subfamily A, Member 1 Gene|CERP|HDLDT1|TGD|Tangier Disease Gene

  human abca1 wild-type allele is located in the vicinity of 9q31 and is approximately 147 kb in length. this allele, which encodes atp-binding cassette sub-family a member 1 protein, is involved in intracellular cholesterol transport. mutation of the gene is associated with high density lipoprotein deficiency type 2 (autosomal dominant) and tangier disease.

• Tangier Disease

  a rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia.

Convert E78.6 to ICD-9-CM

• ICD-9-CM Code: 272.5 - Lipoprotein deficiencies

Patient Education

Lipid Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.

These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.

[Learn More in MedlinePlus]

Abetalipoproteinemia

Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.

The first signs and symptoms of abetalipoproteinemia appear in infancy. They often include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea).

As an individual with this condition ages, additional signs and symptoms include disturbances in nerve function that may lead to poor muscle coordination and difficulty with balance and movement (ataxia). 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. The muscle problems can disrupt skeletal development, leading to an abnormally curved lower back (lordosis), a rounded upper back that also curves to the side (kyphoscoliosis), high-arched feet (pes cavus), or an inward- and upward-turning foot (clubfoot).

Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer (retina) at the back of the eye can cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. People with abetalipoproteinemia may also have other eye problems, 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) with abnormally star-shaped red blood cells (acanthocytosis) and have difficulty forming blood clots, which can cause abnormal bleeding. In some cases, a condition called fatty liver develops, which can cause liver damage.

[Learn More in MedlinePlus]

Familial hypobetalipoproteinemia

Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. 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).

[Learn More in MedlinePlus]

Code History

• FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.