About familial high-density lipoprotein deficiency

What is familial high-density lipoprotein deficiency?

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems.

What are the symptoms for familial high-density lipoprotein deficiency?

Familial high-density lipoprotein deficiency is a genetic condition that affects your ability to make high-density lipoprotein (HDL), or "good," cholesterol.

  • If you have familial high-density lipoprotein deficiency, you may not be able to make enough HDL cholesterol. Low levels of HDL cholesterol are associated with an increased risk of cardiovascular disease and stroke.
  • People with familial high-density lipoprotein deficiency usually have one or more of the following symptoms:
  • High blood pressure
  • High levels of triglycerides (blood fats)
  • Low levels of HDL cholesterol
  • Familial history of early heart disease
  • Keratosis pilaris (small, rough bumps on the backs of the upper arms)
  • Hair loss that is typically on the top of your head or around your temples
  • Holes in your teeth (cavities)
  • Shortness of breath
  • Chest pain
* Leg Weakness or numbness

-High levels of triglycerides in the blood (above 500 mg/dL).

-Atherosclerosis, which is when plaque builds up on the walls of your blood vessels, narrowing them and restricting blood flow to your heart and brain.

-Arterial calcification, which is when calcium builds up in your arteries. This can cause Chest pain and heart attack.

Symtpoms
High levels of triglycerides (a type of fat) in your blood,High levels of LDL (bad) cholesterol in your blood,Elevated levels of apolipoprotein B/A-1 ratio (a measure of how much cholesterol is being carried by HDL particles),Enlargement of the liver and spleen,GallStones

Conditions
Rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood

Drugs
Storvastatin (Lipitor),Simvastatin (Zocor)

What are the causes for familial high-density lipoprotein deficiency?

Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells.

The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the cell membrane. The movement of these substances across the membrane is enhanced by another protein called apolipoprotein A-I (apoA-I), which is produced by the APOA1 gene. Once outside the cell, the cholesterol and phospholipids combine with apoA-I to form HDL. ApoA-I also triggers a reaction that converts cholesterol to a form that can be fully integrated into HDL and transported through the bloodstream.

ABCA1 gene mutations and some APOA1 gene mutations prevent the release of cholesterol and phospholipids from cells. Other mutations in the APOA1 gene reduce the protein's ability to stimulate the conversion of cholesterol. These ABCA1 and APOA1 gene mutations decrease the amount of cholesterol or phospholipids available to form HDL, resulting in low levels of HDL in the blood. A shortage (deficiency) of HDL is believed to increase the risk of cardiovascular disease.

What are the treatments for familial high-density lipoprotein deficiency?

Familial high-density lipoprotein deficiency (FHDLD) is a rare genetic condition that affects the ability of HDLs to remove LDLs from your blood.

  • It's important to know that you can still live a healthy, normal life if you have FHDLD. There are many treatments and lifestyle changes that can help keep your cholesterol and other blood fats in check.
  • Your doctor will recommend a treatment plan based on your symptoms and risk factors. This plan may include:
  • Lifestyle changes: Eating a healthy diet, exercising regularly, and quitting smoking are all important parts of managing your condition. Your doctor will also recommend other lifestyle changes like avoiding trans fats and increasing your intake of certain foods such as oily fish, nuts, legumes, whole grains and fruits and vegetables.
  • Medications: Medications like statins or fibrates may be prescribed to lower LDL levels in the blood by helping remove excess cholesterol from the blood vessels. This can help prevent heart attacks or strokes caused by high levels of LDLs in the blood vessels leading to blockages (atherosclerosis).
  • If your doctor thinks that medication would be helpful for you, they might recommend statins like atorvastatin (Lipitor) or rosuvastatin (Crestor), which help lower LDL ("bad") cholesterol levels but also increase HDL levels by lowering triglyceride levels in your blood.
    Symtpoms
    High levels of triglycerides (a type of fat) in your blood,High levels of LDL (bad) cholesterol in your blood,Elevated levels of apolipoprotein B/A-1 ratio (a measure of how much cholesterol is being carried by HDL particles),Enlargement of the liver and spleen,Gallstones
Conditions
Rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood

Drugs
Storvastatin (Lipitor),Simvastatin (Zocor)

What are the risk factors for familial high-density lipoprotein deficiency?

Familial high-density lipoprotein deficiency, or FHHDL, is a genetic condition that causes the body to produce a low amount of high-density lipoproteins (HDL), which are known as ""cholesterol."" It's hereditary, meaning it's passed down through families.

  • There are different risk factors for this condition, depending on your family history. For example, if someone in your family has had FHHDL and you have similar symptoms as them, then you may be at risk of developing it yourself. This can be hard to diagnose because there are no symptoms associated with the condition itself.
  • Familial high-density lipoprotein deficiency is a genetic disease that affects your body's ability to process cholesterol. This can lead to inflammation, abnormal fat deposits in the arteries, and even strokes and heart attacks.
  • The exact cause of familial high-density lipoprotein deficiency is unknown, but researchers have identified some risk factors that may increase your chances of developing it:
1. Family history: If you have a family member with familial high-density lipoprotein deficiency, you're more likely to develop the condition yourself.

2. Age: People who are over 50 years old are at a higher risk than those who are younger (the mean onset age is between 60 and 70 years).

3. Race: African Americans are at a higher risk than Caucasians or Asians.

Symtpoms
High levels of triglycerides (a type of fat) in your blood,High levels of LDL (bad) cholesterol in your blood,Elevated levels of apolipoprotein B/A-1 ratio (a measure of how much cholesterol is being carried by HDL particles),Enlargement of the liver and spleen,Gallstones

Conditions
Rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood

Drugs
Storvastatin (Lipitor),Simvastatin (Zocor)

Is there a cure/medications for familial high-density lipoprotein deficiency?

There is no cure for familial high-density lipoprotein deficiency (FHDL), but there are medications that can be taken to help manage the signs and symptoms of the disease.

  • FHDL is a genetic disorder that affects the ability of cells to transport cholesterol, which affects the body's ability to produce HDL (high-density lipoprotein) particles.
  • These particles are responsible for removing excess cholesterol from the blood and transporting it back to the liver to be broken down. If you have FHDL, your body cannot produce enough HDL particles or they're defective, which can cause cardiovascular problems including heart attacks and strokes.
  • The main treatment for FHDL is medication that raises levels of HDL in your body. This includes statins (cholesterol-lowering drugs), niacin, fibrates (a type of lipid-lowering medicine), or perhaps even a combination of these medications if needed. Your doctor will work with you to determine which medication will work best for you based on your health history and other factors such as age, gender and other medical conditions present at time of diagnosis (such as diabetes mellitus).
  • There are some medications that may help treat familial high-density lipoprotein deficiency. These medications include:
1. Statins—These drugs lower your blood's cholesterol levels by inhibiting an enzyme that produces cholesterol; however, statins may not work well in people with familial high-density lipoprotein deficiency because they need higher levels of HDL than other people do;

2. Other drugs—These include Ezetimibe (Zetia), which reduces the absorption of cholesterol into your bloodstream; Niacin (Vitamin B3), which lowers triglycerides and increases HDL levels; and Ezetimibe/Simvastatin (Vytorin), which contains Ezetimibe plus simvastatin and reduces LDL.

Symtpoms
High levels of triglycerides (a type of fat) in your blood,High levels of LDL (bad) cholesterol in your blood,Elevated levels of apolipoprotein B/A-1 ratio (a measure of how much cholesterol is being carried by HDL particles),Enlargement of the liver and spleen,Gallstones

Conditions
Rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood

Drugs
Storvastatin (Lipitor),Simvastatin (Zocor)

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