Summary about Disease
Wolman disease (WD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal acid lipase (LAL) enzyme. This deficiency leads to the accumulation of cholesteryl esters and triglycerides in various organs, including the liver, spleen, and intestines, resulting in severe organ damage and failure. WD is the most severe form of LAL deficiency. Without treatment, it is typically fatal in infancy.
Symptoms
Symptoms of Wolman disease typically appear in the first few weeks or months of life and are severe. They include:
Gastrointestinal problems: Vomiting, diarrhea, abdominal distension.
Failure to thrive: Poor weight gain and growth.
Hepatomegaly and Splenomegaly: Enlarged liver and spleen, respectively.
Adrenal calcifications: Calcium deposits in the adrenal glands, which can lead to adrenal insufficiency.
Anemia: Reduced red blood cell count.
Jaundice: Yellowing of the skin and eyes.
Developmental delay: Slower than normal progress in reaching developmental milestones.
Causes
Wolman disease is caused by mutations in the LIPA gene. This gene provides instructions for making the lysosomal acid lipase (LAL) enzyme. LAL is responsible for breaking down cholesteryl esters and triglycerides within lysosomes, which are cellular compartments that digest and recycle materials. Mutations in the *LIPA* gene lead to a deficiency or complete absence of the LAL enzyme, causing the buildup of fats within cells and tissues. It is an autosomal recessive disorder, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent).
Medicine Used
The primary treatment for Wolman disease is enzyme replacement therapy (ERT) with sebelipase alfa (Kanuma). This medication provides a functional version of the LAL enzyme, helping to break down the accumulated fats. Hematopoietic stem cell transplantation (HSCT) has been attempted but carries significant risks and is not always successful. Supportive care, including nutritional support and management of symptoms, is also important.
Is Communicable
No, Wolman disease is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Since Wolman disease is a genetic condition, there are no specific environmental precautions to take. Genetic counseling is recommended for families with a history of Wolman disease to assess the risk of having a child with the condition. For affected individuals, precautions focus on managing symptoms and preventing complications through consistent medical care and adherence to treatment plans.
How long does an outbreak last?
Wolman disease is not an infectious disease and does not have outbreaks. It is a chronic, progressive genetic disorder that persists throughout the individual's life unless effectively treated.
How is it diagnosed?
Wolman disease is diagnosed through a combination of clinical findings and laboratory tests:
Clinical Examination: Evaluation of symptoms such as failure to thrive, hepatosplenomegaly, and adrenal calcifications.
Blood Tests: Measuring LAL enzyme activity in white blood cells or fibroblasts. Low or absent LAL activity is indicative of LAL deficiency. Lipid profile abnormalities might also be present.
Genetic Testing: Sequencing the LIPA gene to identify mutations.
Liver Biopsy: Examining liver tissue for fat accumulation and signs of damage.
Adrenal Imaging: X-rays or CT scans to detect adrenal calcifications.
Timeline of Symptoms
Symptoms typically appear within the first few weeks or months of life:
Early Infancy (Weeks 1-2): Vomiting, diarrhea, and abdominal distension may be the first noticeable symptoms.
Early Infancy (Weeks 2-6): Failure to thrive becomes apparent as the infant fails to gain weight and grow at a normal rate. Hepatomegaly and splenomegaly develop.
Early Infancy (Months 2-6): Anemia, jaundice, and adrenal calcifications may become evident. Developmental delays become noticeable. The disease progresses rapidly without treatment, leading to severe organ damage and death within the first year of life.
Important Considerations
Early Diagnosis is Crucial: Because Wolman disease is rapidly progressive, early diagnosis and treatment are essential to improve outcomes.
Enzyme Replacement Therapy: Sebelipase alfa can significantly improve survival and quality of life for individuals with Wolman disease, but it is not a cure.
Supportive Care: Proper nutritional support, management of symptoms, and monitoring for complications are vital aspects of care.
Genetic Counseling: Families with a history of Wolman disease should receive genetic counseling to understand the risks of having another affected child. Prenatal testing is available for at-risk pregnancies.
Long-Term Monitoring: Individuals with Wolman disease require ongoing monitoring for complications related to the disease and its treatment.