Wolman disease : Treatment, Procedure, Cost And Side Effects

Wolman disease is a rare heritage metabolism disorder that is caused by the complete absence of enzymes called lysosome acid lipase. This is an autosomal recessive inborn error of metabolism due to which the body is not able to produce enough active lysosomal acid lipase (LAL) enzyme. Without this enzymes, the body cannot make some lipid metabolism and this fat is stored in the body, due to various weak complications. The deficiency of the lysomal acid lipase results in the buildup of lipids also known as fats in the body organs and calcium deposits in the adrenal glands due to which the patients may report symptoms like in infants may have enlarged liver and spleen, slow weight gain, weak muscle tone, jaundice, vomiting, diarrhea, delay in developmental activities, anemia, and poor absorption of nutrients from food. The wolman disease is caused by mutations in the LIPA gene in the patient and thus is an genetic disorder.

The disease is inherited and is life threating in nature. In some patients there may be liver failure, abdominal bloating and thus the condition can be life threatening. Over the years numerous research have been carried out to come up with efficient treatment for this disease. Some of the possible treatment includes enzyme replacement therapy, liver transplantation etc. Still the research is on and possible effective methods for the cure of the disease are seeked upon.

Since this is a genetic disorder, the current treatment options are only used to increase the life expectancy of the patient and provide supportive therapy. Still effective methods are to be devised for the treatment of the disease. The treatment begins by diagnosis of the disease. The diagnosis is the first step of coming face to face to the actual problem of condition based on the different symptoms and studying of the mutations present in the genes. It can however be very challenging to do the same. This can be done through a total research about the patient’s medical history, symptoms, physical examination on the condition of the patient and lot of laboratory results are required. Once the diagnosis is done the possible options for treatment are as follows:

1. Nutritional treatment: To reduce symptoms, people suffering from Wolman disease the patients are given a mixture of hysteria and nutritional treatment.
2. Enzyme replacement therapy: Enzyme Replacement Therapy involves the replacement of a missing enzyme in such individuals that do not lack or decrease the special enzymes in the question. In 2015, one success in enzyme replacement therapy has improved life expectancy and life expectancy for people with sickness.
3. Hematopoietic stem cells Transplantation: Some children with Wolman disease were treated with hematopoietic stem cell transplantation. Hematopoietic stem cells are rich in lymphocytes found in bone marrow. These blood stem cells increases and one of the three main types of blood cells like Red blood cells, white blood cells, or platelets. An impregnation is done to affect one with medulla, which does not have any particular disorder. In healthy cells produced by new medulla, there is an adequate level of lysosomal acid liposuction needed to break cholesterol. Researchers estimate that early diagnosis and accelerated treatment with hematopoietic stem cell transplantation increases the likelihood of protecting liver function and preventing adulated degradation. There is some success in treatment of Wolman disease patients in Haemopoietic stem cell transplant.
4. Sebelipase Alfa Injection: Lysosomal acid lipase deficiency can be treated with sebelipase alfa is a recombinant form of Lysosomal acid lipase. This is administered once a week via intraveneous infusion in people with rapidly progressing disease in the first six months of life. In people with less aggressive disease, it is given every other week.
5. Liver transplantation can be considered in some cases when the liver disease is severe.
6. Reports of treatment with bone marrow transplantation have shown mixed results, correcting the metabolic disease in a few cases.

The Wolman disease is a genetic disorder where a metabolism disorder occurs which is caused due to the complete absence of enzymes called lysosome acid lipase. Due to this disorder the patients suffer from symptoms like jaundice, enlarged liver and spleen, slow weight gain, diarrhea, etc. This disease is caused due to an enzyme deficiency and can be life threatening. Thus, people who report the symptoms of the disease like enlarged spleen and liver, jaundice, muscle pain, fat deposition etc., need to consult the doctor for further examination. Moreover patients who already have a reported case of this disease in the family need to undergo the examination so as to find out whether the disease is present or not. Thus, patients with early history of the disease in the family, those who have similar symptoms, infants with these complications are all eligible for the diagnosis and the treatment.

Patients who are not having any symptoms related to the disease are thus not eligible for the treatment. Moreover the mode of the treatment for the disease varies from patients condition and the availability of the resources at the place. Thus, only specific mode of treatment can be imparted to the patients suffering from the disease. Patients with other health complications like allergic to some medicines, diabetes, etc. need to have an alternative form of treatment and this makes them not eligible for the treatment to some extent.

Yes there are many side effects associated with this treatment. Some of them are as follows:

1. In infants there may be problems associated with feeding difficulties, some may have frequent vomiting, diarrhea, swelling of the abdomen and failure to gain weight or sometimes weight loss.
2. The disease in infants causes increasing fat accumulation in the liver which leads to other complications including yellowing of the skin and whites of the eyes and a persistent low grade fever.
3. The Sebelipase Alfa Injection can cause severe skin rashes, itching, or swelling in the patient body, agitation, irritability. In some cases it is reported to generate stomach pain or low red blood cells (anemia) which causes pale skin. It can also cause light-headedness or shortness of breath, rapid heart rate problems and trouble while concentrating.
4. Hematopoietic stem cells Transplantation may result in mouth and throat pain due to chemo and radiation, there may be internal bleeding and thus a transfusion may be required, nausea and vomiting are other common side effects of this method of treatment.
5. Enzyme replacement therapy can cause flushing, headache, pyrexia, digestive manifestations (nausea, vomiting, abdominal pain) and dyspnoea.

In case any patient reports any other complexity after undergoing the treatment the patient is advised to consult the doctor immediately.

In case the patient has undergone Hematopoietic stem cells Transplantation or liver transplantation, the patient shall be monitored in hospital for few weeks and it is essential to have a fat restricted diet. The patient should be taking proper hygienic measures, diet based food so as to avoid any complications of infection. The patient is asked to take adequate sleep and rest. Patient is advised not do vigorous exercises, and thus avoid hectic works. All other treatment shall maintain a strict diet restriction to bring down the fat deposition and to reduce the jaundice levels.

The recovery time for the disease may vary from the patient to patient condition and on the mode of the treatment opted. Enzyme replacement therapy requires the patient to undertake enzyme IV after every 2 weeks. The enzymes are given till the levels are adequate. If the levels of the enzyme fall again then they are to be administered again. Thus it is a lifelong therapy. Liver transplants are done only if the condition of the patient is critical and the recovery time after successful liver plant can be between 3 to 6 months. But as the Wolman disease is a genetic disorder all the mode of treatment are just supportive and thus these supportive treatment along with the therapeutic support are to be given for the lifetime of the patient. The treatment can only help the patient to improvise the existing condition but cannot fully cure the disease.

The price of the treatment varies from place to place and on the availability of the resources. The disease requires lifelong treatment and care. Thus, the treatment costs are really high.

1. Price of Enzyme replacement therapy in India is around Rs 1.25 lakhs per dose.
2. Price of Liver transplantation in India is around Rs 18 lakhs on average.
3. Price of Hematopoietic stem cells Transplantation in India is between Rs 22 lakhs to 28 lakhs.
4. Apart from that the price of the Wolman Disease diagnosis and treatment is life long process and the treatment costs thus are high. The diagnosis and treatment thus can range from 1 lakh to 50 lakh INR.

The Wolman disease is a genetic disorder all the mode of treatment are just supportive and thus these supportive treatment along with the therapeutic support are to be given for the lifetime of the patient. The treatment can only help the patient to improvise the existing condition but cannot fully cure the disease. Thus, the results of the treatment are not permanent in nature.

Wolman's disease is a fatal disorder characterized by absence of acid lipase and accumulation of cholesterol esters. Due to its rareness, the research for effective treatment is stull on. Bone marrow transplantation is one such on-going research which is assumed to yield promising results. Apart from it other treatments like cellular cholesterol synthesis reduction with the help of lovastatin which is an inhibitor of 3-hydroxy-3-methylglutaryl-CoA reductase, is now available and can be thought to be an alternative treatment. In the near future, treatments like isolation and purification of acid lipase which shall help in the direct infusion of missing enzyme can be assumed to be an alternative treatment for the disease. Another alternative treatment that is promising in nature for the treatment of the Wolman disease is the gene therapy in association with the bone marrow transplantation.