An overview of Wolman Disease

Wolman disease is generally described as a rare form which is also called an inherited health condition which usually involves the breakdown of cholesterol and fats in every individual’s body or else 'lipid metabolism’. People who are affected by this Wolman disease disorder will face the harmful amounts of lipids which are collecting in their liver, spleen, small intestine, bone marrow, lymph nodes, and adrenal glands. And affected people will also experience calcium deposits in their adrenal glands. When an infant is born with Wolman disease, they are active and healthy.

Children who are affected with Wolman disease will develop severe malnutrition. Most children do not live beyond their childhood. This type of disorder will occur approximately in one in 350k newborns. Other names of Wolman disease are Acid Lipase Deficiency, Familial Xanthomatosis, Lipa Deficiency, LAL deficiency, Liposomal Acid Lipase Deficiency, and Lysosomal Acid Lipase Deficiency.

Wolman disease typically comes under a family of disorders called 'lipid storage diseases’. A genetically-inherited illness causes disorders in more than one enzyme which is involved in lipid metabolism.  Most of these disorders are generally called 'autosomal recessive’, which means both parents have a copy of the gene which is responsible for the WD disease and also the child affected by this disease has got the defective gene from their biological parents. Most lipid storage diseases will be present in every population.

Signs and Symptoms 

Following list are the some signs and symptoms of Wolman Disease:

• Abdominal distention

• Adrenal insufficiency

• Anemia

• Ascites

• Adrenal calcification

• Bone-marrow foam cells

• Cachexia

• Cirrhosis

• Esophageal varix

• Fever

• Growth delay

• Global developmental delay

• Hepatic steatosis

• Hepatomegaly

• Malnutrition

• Nausea and vomiting

• Protuberant abdomen

• Steatorrhea

• Splenomegaly

Causes

• Wolman Disease is usually caused by changes in the LIPA gene, generally this gene gives instructions to make the lysosomal acid lipase

• This Wolman Disease is an inherited disease which can be in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions or disorders which occur when the two copies of an unusual gene have been inherited on a non-sex chromosome. If both the parents have an autosomal recessive condition or disorder, there is 100% chance of passing on the mutated (changed) genes to their children. If only one mutant copy of the gene is inherited, then that individual will be carrier of this disease, but will not be with any presence of symptoms. Children born by the two carriers will have a 25% chance of being homozygous dominant and 50% chance of having heterozygous  and a 25% chance of having homozygous recessive.

Who gets Wolman Disease?

• Wolman Disease is a rare congenital disorder will occur in less than 10 in a million

• Symptoms will appear at birth or in an infancy

• Both males and females might be affected with this disorder

• Throughout the world, people of all races and ethnic groups might be affected

Risk Factors

• Family history is an important risk factor for Wolman disease which can be inherited

• Children who are born to consanguineous parents will be at a high risk for the Wolman disease disorder

But it is more important that having a risk factor does not mean that they get the condition. A risk factor increases the chance of getting a condition when compared to an individual without the risk factors. Specifically, risk factors are more important than others. And also an important point is that not having a risk factor doesn’t mean an individual will not be affected by the Wolman disease condition. And also you must discuss with your healthcare physician about the effects of risk factors.

Diagnosis

Wolman Disease can be diagnosed on the basis of below list of information:

• Complete physical examination

• Thorough medical history evaluation

• Assessment of signs and symptoms

• Laboratory tests

• Imaging studies

• Biopsy studies, if necessary

Many health problems will have the same signs and symptoms. Your physician will perform other tests to odd out other medical conditions which can be arrive at a definitive diagnosis.

Complications

Some of the complications of Wolman Disease are:

• Failure to thrive 

• Intestinal malabsorption

• Inadequate weight gain

• Liver failure

Complications of this disorder may also occur with or without treatment and in some rare cases, because of treatment also.

Treatment

Till now, there is no other treatment for Wolman Disease conditions, even though it is a genetic condition. Usually, treatments are given only to manage the symptoms and some complications that develop.

• First treatment is Replacement of the deficiency enzyme will lead to moderate improvement in some countries

• In some cases,where serious liver damage or liver failure has occurred then Liver transplantation might be recommended

• For some people, bone marrow transplantation has shown success to treat the disorder

• In some cases, Hematopoietic stem cell transplantation produces very productive results in treating Wolman disease.

Prevention

Wolman Disease might not be preventable hence it is a genetic disorder.

• Genetic testing will be conducted for expecting parents which helps to understand the risk during pregnancy

• If there is any family history of this disease, then genetic counseling will help you to understand the risks before you plan the child.

• Currently, research is being performed to identify the possibilities of treatment and prevention of both inherited and acquired genetic disorders called Wolman disease

Follow regular medical screening at regular intervals with tests and physical examinations.

Prognosis

Wolman Disease is generally a serious and life threatening health conditions with poor good outcomes

• Very few children live beyond the infancy of first year

• With the help of hematopoietic stem cell transplantation, Encouraging results have been obtained in some cases. 

Frequently Asked Questions

Q1. How common is Wolman's disease?

Ans: WD is a LSD caused by lysosomal acid lipase deficiency (LAL-D) and is an autosomal recessive disorder with an incidence of 1 in 500,000 live births.

Q2. What is the survival rate for Wolman disease?

Ans: Consequently, patients invariably suffer from profound weight loss and failure to thrive, presenting a median life expectancy of 3.7 months.

Q3. What is Wolman's disease radiopaedia?

Ans: Wolman disease is an autosomal recessive storage disorder caused by very low (or absent) lysosomal acid lipase (LAL) activity.

Q4. Is Wolman disease treatable?

Ans: Wolman disease successfully treated by bone marrow transplantation Bone Marrow Transplantation.

Q5. What is the mechanism of Wolman disease?

Ans: Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene.