11

Is Cholesteryl Ester Storage Disease hereditary?

Here you can see if Cholesteryl Ester Storage Disease can be hereditary. Do you have any genetic components? Does any member of your family have Cholesteryl Ester Storage Disease or may be more predisposed to developing the condition?

Is Cholesteryl Ester Storage Disease hereditary?

Cholesteryl Ester Storage Disease (CESD) is a hereditary condition caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. CESD leads to the accumulation of cholesteryl esters in various organs, causing a range of symptoms. Genetic testing can help determine the risk of inheriting CESD and provide valuable information for family planning.



Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder that affects the metabolism of cholesterol. It is caused by mutations in the LIPA gene, which provides instructions for producing an enzyme called lysosomal acid lipase (LAL). LAL is responsible for breaking down cholesterol esters and triglycerides in the lysosomes, which are cellular compartments involved in waste disposal.



Yes, CESD is hereditary and follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated LIPA gene, one from each parent, to develop the disease. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit both copies and be affected by CESD.



It is important to note that individuals who inherit only one copy of the mutated gene are considered carriers and typically do not show symptoms of CESD. However, they can pass the mutated gene on to their children.



The symptoms of CESD can vary widely, ranging from mild to severe. They may include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), elevated liver enzymes, low levels of HDL cholesterol, and in some cases, liver and cardiovascular complications. The age of onset and disease progression can also vary, with some individuals experiencing symptoms in childhood while others may not develop symptoms until adulthood.



Diagnosis of CESD is typically confirmed through genetic testing, which can identify mutations in the LIPA gene. Additionally, blood tests and imaging studies may be used to assess liver and lipid abnormalities.



Treatment for CESD focuses on managing symptoms and preventing complications. This may involve dietary modifications, such as a low-cholesterol diet, and medications to manage cholesterol levels. In some cases, liver transplantation may be considered for individuals with severe liver involvement.


Diseasemaps
1 answer

Is Cholesteryl Ester Storage Disease hereditary?

Cholesteryl Ester Storage Disease life expectancy

What is the life expectancy of someone with Cholesteryl Ester Storage Disea...

2 answers
Celebrities with Cholesteryl Ester Storage Disease

Celebrities with Cholesteryl Ester Storage Disease

1 answer
Is Cholesteryl Ester Storage Disease contagious?

Is Cholesteryl Ester Storage Disease contagious?

2 answers
Natural treatment of Cholesteryl Ester Storage Disease

Is there any natural treatment for Cholesteryl Ester Storage Disease?

ICD9 and ICD10 codes of Cholesteryl Ester Storage Disease

ICD10 code of Cholesteryl Ester Storage Disease and ICD9 code

2 answers
Living with Cholesteryl Ester Storage Disease

Living with Cholesteryl Ester Storage Disease. How to live with Cholesteryl...

1 answer
Cholesteryl Ester Storage Disease diet

Cholesteryl Ester Storage Disease diet. Is there a diet which improves the ...

1 answer
History of Cholesteryl Ester Storage Disease

What is the history of Cholesteryl Ester Storage Disease?

World map of Cholesteryl Ester Storage Disease

Find people with Cholesteryl Ester Storage Disease through the map. Connect with them and share experiences. Join the Cholesteryl Ester Storage Disease community.

Stories of Cholesteryl Ester Storage Disease

CHOLESTERYL ESTER STORAGE DISEASE STORIES

Tell your story and help others

Tell my story

Cholesteryl Ester Storage Disease forum

CHOLESTERYL ESTER STORAGE DISEASE FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map