Causes and risk factors
Familial LPL deficiency is caused by mutations in the gene responsible for formation of enzyme lipoprotein lipase. It is inherited as an autosomal recessive trait. Thus the defective gene must be present in both parents for the offspring to develop this disease.
Clinical presentation
Patient presents with pain in the abdomen, loss of appetite, nausea, vomiting. Muscle aches and bone pains are experienced. Xanthomas, i.e., fatty skin growths are observed. Recurrent pancreatitis, enlargement of liver and spleen [hepatosplenomegaly]. Failure to thrive in infancy and jaundice occurs.
Investigation
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Routine blood tests are done. Lipid profile, especially serum triglyceride levels, LPL enzyme assay is recommended.
Treatment
Serum triglyceride levels should be controlled by means of a very low-fat diet. Symptomatic treatment is necessary for pancreatitis, jaundice, etc. This disorder cannot be cured completely, but a combination of healthy lifestyle and medication will help to reduce the risk of heart disease and other complications. Lifestyle measures include low fat diet, regular exercise, and loss of excess weight. Medications like statins contribute further to the treatment.
Other Modes of treatment
The other modes of treatment can also be effective in the management of familial lipoprotein lipase deficiency. Homoeopathy is a science which deals with individualization and considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly, the Ayurvedic system of medicine which uses herbal medicines and synthetic derivates is also found to be effective in treating familial lipoprotein lipase deficiency.
