familial hypobetalipoproteinemia 2

Familial hypobetalipoproteinemia 2 (FHBL2) is a condition characterized by very low levels of lipids in the blood, specifically low levels of apolipoprotein B (apoB) and apolipoprotein A-I (apoA-I). This results in hypocholesterolemia, which is low blood levels of total cholesterol.

• The condition is caused by homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31 [1].
• People with FHBL2 have permanently low levels of lipids below the 5th percentile [4].
• The lipid profile is one of hypocholesterolemia with low plasma low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol [3].

Overall, familial hypobetalipoproteinemia 2 is a rare genetic disorder that affects the body's ability to transport fats in the blood.

Familial hypobetalipoproteinemia 2 (FHBL2) is a condition characterized by very low levels of lipids in the blood. The specific signs and symptoms associated with FHBL2 include:

• Low blood levels of apolipoprotein B (apoB): This is a key finding in individuals with FHBL2, indicating impaired lipid metabolism.
• Low blood levels of apolipoprotein A-I (apoA-I): Another important marker for FHBL2, apoA-I plays a crucial role in lipid transport and metabolism.
• Hypocholesterolemia: This refers to low blood levels of total cholesterol, which is a hallmark of FHBL2.

It's worth noting that the severity and presentation of signs and symptoms can vary widely among individuals with FHBL2. However, these specific findings are commonly associated with this condition.

References:

• [11] Familial hypobetalipoproteinemia 2 (FHBL2) is a condition where people have very low levels of lipids in their blood. Specific findings include low blood levels of apolipoprotein B (apoB). Tests also show low levels of apolipoprotein A-I (apoA-I). People with FHBL2 have hypocholesterolemia.
• [12] From MedlinePlus Genetics 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.
• [15] Associated genetic disorders includes abetalipoproteinemia, familial hypobetalipoproteinemia, and chylomicron retention disease. Signs and symptoms in the the genetic or familial form of Hypolipoproteinemia vary. In some forms, although the low density lipoprotein (LDL) cholesterol levels are very low, this syndrome may not cause any symptoms.

Familial hypobetalipoproteinemia (FHBL) can be diagnosed through a combination of lipid profile analysis and genetic testing.

• Lipid Profile Analysis: This involves measuring the levels of lipids, such as cholesterol and triglycerides, in the blood. Individuals with FHBL typically have low levels of these lipids [4].
• Genetic Testing: This is used to confirm the diagnosis by detecting mutations in the genes associated with FHBL. The test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 5 genes associated with familial hypobetalipoproteinemia [7].

It's worth noting that genetic testing should only be performed in specialized

Based on the provided context, it appears that there is limited information available on the specific treatment for Familial Hypobetalipoproteinemia 2 (FHBL2). However, I can provide some general information and insights related to this condition.

General Information

Familial hypobetalipoproteinemia 2 (FHBL2) is a rare genetic disorder characterized by very low levels of lipids in the blood. This condition is associated with mutations in the APOB gene, leading to reduced levels of apolipoproteins B and A-I.

Treatment Overview

While there is no specific treatment mentioned for FHBL2, it's essential to note that individuals with this condition may require dietary modifications and supplements to manage their symptoms. The goal of treatment is to prevent or delay the progression of the disease and minimize its impact on daily life.

• Dietary Modifications: Individuals with FHBL2 may benefit from a low-fat diet (<30% fat) to help manage their lipid levels.
• Supplements: Fat-soluble vitamin supplementation, particularly vitamin E, may be recommended to prevent or delay deficiency-related symptoms.

Additional Insights

It's worth noting that the provided context mentions the Abetalipoproteinemia and Related Disorders Foundation (ABLRDF), a non-profit organization dedicated to supporting individuals with abetalipoproteinemia, familial hypobetalipoproteinemia, and related disorders. This foundation may provide valuable resources and information for individuals affected by FHBL2.

Summary

In summary, while there is limited specific treatment information available for Familial Hypobetalipoproteinemia 2 (FHBL2), dietary modifications and supplements may be beneficial in managing symptoms. It's essential to consult with a healthcare professional for personalized guidance and support.

References:

• Context: #10, #11, #12, #13, #14

Familial hypobetalipoproteinemia 2 (FHBL2) is a rare genetic disorder characterized by low levels of apolipoprotein B and lipids in the blood. When diagnosing FHBL2, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for FHBL2:

• Anderson disease (CM retention disease): This is a rare genetic disorder caused by mutations in the APOB gene, leading to impaired lipid metabolism and low levels of apolipoprotein B.
• Ataxia: A group of neurological disorders that affect coordination and balance. Some forms of ataxia can be associated with lipid metabolism disorders.
• Chronic Pancreatitis: Inflammation of the pancreas that can lead to malabsorption of fats and lipids, resulting in low levels of apolipoprotein B.
• Chronic cholestatic liver disease: A condition where bile flow is impaired, leading to fat malabsorption and low levels of apolipoprotein B.
• Combined hyperlipidemia: A genetic disorder characterized by high levels of triglycerides and LDL cholesterol. However, some forms of combined hyperlipidemia can present with low levels of apolipoprotein B.

It's essential to note that these differential diagnoses are not exhaustive, and a comprehensive evaluation by a healthcare professional is necessary to determine the correct diagnosis for an individual presenting with symptoms of FHBL2.

References:

• [4] Schonfeld G. Familial hypobetalipoproteinemia: genetics and pathophysiology. Cited by 200.
• [8] Secondary causes of hypobetalipoproteinemia include occult malignancy, as well as conditions such as malnutrition, liver disease, and chronic pancreatitis.