Wolman’s Disease

Wolman ‘s disease is a lysosomal storage disease that is inherited in an autosomal recessive manner. In the disease there is a loss of activity of the so-called lysosomal acid lipase. Wolman’s disease is relatively rare.

Wolman’s Disease

What is Wolman’s disease?

Wolman’s disease is a genetic disorder in which there is a defect in the lysosomal acid lipase enzyme. The enzyme is necessary to be able to metabolize special lipids in the body. As a result, metabolism is impaired. Wolman’s disease is always inherited in an autosomal recessive manner. See fun-wiki for What is ICP used for.

The gene encoding acid lipase is located on chromosome number 10. The lipid storage disease (medical term xanthomatosis) in the context of Wolman’s disease is characterized by calcification of the adrenal glands, which in most cases begins in the first few days of life.


The main cause of the disease Wolman’s disease is found exclusively in the inheritance of a genetic defect. The disease is based on a complete loss of lipase function, caused by mutations in the so-called LIPA gene. This enzyme is responsible for the cleavage of lysosomes into cholesterol esters and triacylglycerides, which are produced in an endocytic manner in the form of the substance LDL, a special lipoprotein. be included in the appropriate cell.

Under normal circumstances, free cholesterol is formed during this process, which is transported to the so-called cytosol and is responsible for the regulation of cholesterol synthesis in the endoplasmic reticulum. In the presence of Wolman’s disease, cholesterol esters accumulate in the lumen of the lysosomes.

At the same time, the normal course of cholesterol synthesis is disrupted, so that more and more lipoprotein LDL is absorbed. The substances cholesterol esters and triacylglycerides accumulate more and more, with the result that the cells die off in the long term.

Symptoms, Ailments & Signs

A number of different symptoms can occur as part of Wolman’s disease. These symptoms are primarily caused by the excessive accumulation of lipids in the body. The symptoms of Wolman’s disease are characterized by those of cholesterol ester storage disease, although there is still a certain residual activity in relation to the lipase.

The symptoms of Wolman’s disease show up early and in many cases appear immediately after the birth of the affected patient. In the case of Wolman’s disease, for example, gastrointestinal symptoms in the form of flatulence, swelling in the abdominal area and a bloated body, vomiting and also a pronounced enlargement of the liver and spleen (medical term hepatosplenomegaly) can occur as possible symptoms.

Necrosis can result in both enlargement and calcification of the adrenal glands. Symptoms such as hypercholesterolemia and hyperlipidemia can also occur. In addition, life-threatening complications can develop, which in many cases arise in early childhood.

Diagnosis & course of disease

At the first symptoms of Wolman’s disease, thorough specialist examinations are ordered immediately, within the framework of which an exact diagnosis is made possible. In most cases, a laboratory blood analysis is carried out, in which changes in the lipid patterns can be detected. Foam cells usually appear.

Another possible tool for diagnosing Wolman’s disease is the liver biopsy. Here, unusually large accumulations of lysosomes in the so-called hepatocytes can be detected, which can provide information about the disease. The differentiation of Wolman’s disease from other lysosomal storage diseases can be carried out by means of enzymatic activity tests and genetic analyzes in the context of which mutations in the respective genes can be identified.

Diagnostic methods such as examinations using X -rays and sonography can be used as instrument-based diagnostics to determine the disease Wolman’s disease. Wolman’s disease usually leads to death within the first year of life.


The symptoms of Wolman’s disease can be very different. For this reason, early treatment is not possible in many cases, since the symptoms and complaints are not characteristic. The patients suffer from flatulence and constipation.

It is not uncommon for this to lead to a loss of appetite and psychological problems due to the persistent problems in the stomach area. Not infrequently, patients also suffer from a bloated abdomen and swelling. Nausea and vomiting can also occur.

The symptoms of Wolman’s disease can significantly limit the development of children. When not sailing, children are bullied or teased and can also develop psychological problems as a result. A causal treatment or therapy of this disease is not possible.

The complaints themselves can be treated symptomatically and limited, whereby there are usually no special complications. However, the patients are dependent on lifelong therapy, since a completely positive course of the disease does not usually occur. However, the life expectancy of those affected is not reduced by Wolman’s disease.

When should you go to the doctor?

Wolman’s disease usually manifests itself in the first few weeks of life. If it is not detected immediately after birth, a doctor should be consulted at the latest when the known symptoms appear. For example, recurring abdominal pain, diarrhea or vomiting in the child must be examined by a doctor so that there are no complications and any Wolman disease is detected early. If growth retardation or chronic fever sets in, inpatient treatment may also be necessary. The actual therapy must be closely monitored in any case.

Treatment is provided by the family doctor and various specialists in infectious diseases and internal diseases. If the course is positive, the parents of the affected child should also involve a physiotherapist in the treatment. Since Wolman’s disease is fatal in most cases, a therapist should be consulted in addition to medical treatment. Palliative medical measures must also be initiated together with the responsible doctor in order to ensure comprehensive care for the person concerned in the last phase of life.

Treatment & Therapy

There are currently no specific treatment methods for treating Wolman’s disease. Treatment is usually only symptomatic. For example, so-called HMG-CoA reductase inhibitors are administered to the affected patient or inhibitors of apolipoprotein B synthesis or cholesterol synthesis must be taken.

In recent years, successful enzyme replacement therapies have also been developed within the framework of various clinical programs, which can be used for various lysosomal storage diseases and also in the presence of Wolman’s disease. The corresponding enzyme is supplied externally at regular intervals, which can result in a reduction or even reversal of the symptoms. The removal of any polyps is also an option for surgical treatment of Wolman’s disease.

Outlook & Forecast

Wolman’s disease is a very rare disease that normally leads to the death of the child within the first three to six months of life. Sick children die within the first year of life as a result of the disease. The prognosis is accordingly poor. A specific enzyme replacement therapy that can extend life expectancy has been available in Germany since 2015.

The infusion takes place every two weeks and thus represents a permanent burden for those affected, since there are only a small number of specialist clinics offering the therapy in Germany. However, enzyme replacement therapy can significantly improve quality of life.

In connection with further treatment measures such as drug-based pain treatment and symptomatic therapy for liver problems, sick children can lead a relatively symptom-free life in individual cases. Long-term studies on the course of Wolman’s disease do not yet exist due to the rarity of the disease. The responsible specialist makes the final prognosis. The general practitioner or a specialist in genetic diseases is responsible for making the prognosis with regard to the individual symptoms and the constitution of the patient.


Since Wolman’s disease is an inherited disease, there are no preventive measures. If corresponding symptoms and signs characteristic of the disease occur, immediate detailed specialist medical examinations of the affected patient must be carried out. Thus, any presence of Wolman’s disease can be quickly diagnosed and treated accordingly.

This can reduce the symptoms of the disease that occur and reduce the likelihood of developing potentially dangerous complications. In general, however, Wolman’s disease is an extremely rare disease, with an estimated frequency of around 1:700,000.


In most cases, those affected with Wolman’s disease have only very few and usually only very limited follow-up measures available. It is a congenital disease that cannot be completely cured. Therefore, the person affected by this disease should consult a doctor at an early stage in order to prevent the occurrence of further complications and symptoms.

Self-healing cannot occur. In the case of a desire to have children, a medical examination should be carried out with Wolman’s disease in order to prevent the disease from recurring. Those affected with Wolman’s disease are usually dependent on taking various medications, which can permanently relieve and limit the symptoms.

You should always pay attention to the correct dosage and regular intake in order to alleviate the symptoms. Regular checks and examinations by a doctor are also very important in order to identify and treat further damage at an early stage. Due to the illness, many patients are also dependent on the support of their own family, although psychological support is often also necessary. As a rule, Wolman’s disease does not reduce the life expectancy of the person affected.

You can do that yourself

The treatment of the symptoms associated with Wolman’s disease takes place either symptomatically or with enzyme replacement therapy. To date, however, the proven effectiveness of these treatments has been disputed.

With the disease, which is already evident in the first days of life, there are hardly any possibilities for parents to help themselves apart from medical applications. The only supporting measure that can be tried is to adapt the food given to the children to their serious health condition as best as possible. For example, a low-cholesterol diet combined with cholestyramine can help alleviate the effects of Wolman’s disease.

The emotional and physical presence can have a positive effect on the patient’s quality of life. Since the parents are not given any other means of providing help for their children, the focus should be on psychological support for them. Even newborns have a very keen sense of changes in their parents’ behavior. With an environment that is as emotionally stable as possible, the children can be helped to experience a time of security despite the consequences of the illness. It is important that parents and relatives do not shy away from accepting help in looking after the child.