Primary Intestinal Lymphangiectasia (PIL) is a rare disorder characterized by abnormal dilation of the lymphatic vessels in the small intestine. It leads to impaired absorption of dietary fats and fat-soluble vitamins, resulting in symptoms such as chronic diarrhea, malnutrition, and edema.
The exact cause of PIL is not fully understood, but it is believed to have a genetic component. Research suggests that PIL can be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition.
Several genes have been associated with PIL, including the FABP2 gene, which encodes a protein involved in fat absorption. Mutations in this gene can disrupt the normal function of the lymphatic vessels in the intestine, leading to lymphangiectasia.
It is important to note that not all cases of PIL are hereditary. In some instances, the condition may occur sporadically without a clear genetic cause. This is known as non-hereditary PIL.
Genetic testing can be helpful in diagnosing PIL and determining its hereditary nature. If a person is diagnosed with PIL, genetic counseling may be recommended to assess the risk of passing the condition on to future generations.