Fld

Familial Lipoprotein Deficiency
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Xanthomas, Pancreatitis, Hepatosplenomegaly
Complications	Atherosclerosis, Coronary artery disease
Onset	Childhood or early adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Blood test, Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Dietary management, Medications
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Familial Lipoprotein Deficiency (FLD) is a rare genetic disorder characterized by the body's inability to properly metabolize lipoproteins, which are molecules made of fat and protein that carry cholesterol and triglycerides in the blood. This condition can lead to a variety of symptoms and complications, including xanthomas, pancreatitis, and increased risk of atherosclerosis.

Etiology

Familial Lipoprotein Deficiency is primarily caused by genetic mutations that affect the function of enzymes or proteins involved in lipoprotein metabolism. The most common genetic mutations associated with FLD occur in the Lipoprotein lipase (LPL) gene, which is crucial for the breakdown of triglycerides in lipoproteins. Other mutations may affect the Apolipoprotein C-II (APOC2) gene, which is a cofactor for LPL.

Pathophysiology

In individuals with FLD, the defective or absent lipoprotein lipase enzyme leads to the accumulation of chylomicrons and very low-density lipoproteins (VLDL) in the blood. This results in elevated levels of triglycerides, which can cause the formation of xanthomas and increase the risk of pancreatitis. The impaired clearance of lipoproteins also contributes to the development of atherosclerosis, increasing the risk of coronary artery disease.

Clinical Presentation

Patients with Familial Lipoprotein Deficiency may present with a variety of symptoms, including:

• Xanthomas: Yellowish deposits of fat under the skin, often found on the elbows, knees, and buttocks.
• Pancreatitis: Inflammation of the pancreas, which can cause abdominal pain, nausea, and vomiting.
• Hepatosplenomegaly: Enlargement of the liver and spleen due to lipid accumulation.
• Increased risk of atherosclerosis and coronary artery disease.

Diagnosis

The diagnosis of Familial Lipoprotein Deficiency is based on clinical evaluation, laboratory tests, and genetic testing. Key diagnostic tests include:

• Blood test: To measure levels of triglycerides, cholesterol, and lipoproteins.
• Genetic testing: To identify mutations in the LPL or APOC2 genes.
• Lipoprotein electrophoresis: To analyze the types and amounts of lipoproteins in the blood.

Management

Management of Familial Lipoprotein Deficiency focuses on reducing triglyceride levels and preventing complications. Treatment options include:

• Dietary management: A low-fat diet to reduce the intake of triglycerides.
• Medications: Such as fibrates, niacin, or omega-3 fatty acids to lower triglyceride levels.
• Regular monitoring of lipid levels and cardiovascular health.

Prognosis

The prognosis for individuals with Familial Lipoprotein Deficiency varies depending on the severity of the condition and the effectiveness of treatment. With proper management, many patients can lead relatively normal lives, although they remain at increased risk for cardiovascular complications.

See also

• Hyperlipidemia
• Lipoprotein lipase deficiency
• Apolipoprotein C-II deficiency

External links

• National Heart, Lung, and Blood Institute