Symptoms And Causes Of Abetalipoproteinemia

Abetalipoproteinemia is a very rare genetic disorder that was first identified in 1950. It is estimated to affect only one hundred individuals worldwide. Also known as Bassen-Kornzweig syndrome, the condition impairs the body's ability to digest fats and some kinds of vitamins. If left untreated, abetalipoproteinemia can lead to vitamin deficiencies that may produce serious complications. Generally, abetalipoproteinemia affects the eyes, blood, nervous system, and gastrointestinal tract. Patients with this ailment may experience wide-ranging symptoms such as coordination problems, slurred speech, protrusion of the abdomen, and poor balance and dexterity. Vision problems are also common, and infants with the disorder may have delayed growth patterns. To diagnose this disorder, doctors perform specialized blood tests to measure the levels of certain lipids, and patients may also need to have neurological and eye examinations. An ultrasound of the liver and an endoscopy can assist with diagnosis. Current treatment methods emphasize dietary modifications, including the adoption of a diet low in long-chain saturated fatty acids. Patients typically need to take high doses of vitamins K, E, and A for effective symptom management. Potential gene therapies for the treatment of abetalipoproteinemia are currently being studied.

The major causes and symptoms of abetalipoproteinemia are outlined below.

Genetic Mutation

Abetalipoproteinemia occurs due to a genetic mutation in an autosomal recessive fashion. To be diagnosed with the condition, an individual must inherit two copies of the mutated gene, one from each of their parents. Scientists have determined problems with the MTTP gene are a cause of Bassen-Kornzweig syndrome. This gene holds instructions for the encoding of a protein called the microsomal triglyceride transfer protein (MTP). Without the MTP protein, apoB-containing lipoproteins cannot be properly manufactured and released within the liver and intestines. This results in low levels of MTP and triggers the problems with fat and vitamin absorption that take place with abetalipoproteinemia. Recent studies have shown the MTTP gene is responsible for transporting lipids away from the heart, and low levels of MTP associated with abetalipoproteinemia may cause a buildup of fat within the heart, resulting in reduced function of this organ.

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Retinitis Pigmentosa

Retinitis pigmentosa is an eye condition that is typical among patients with abetalipoproteinemia, and it can be triggered by deficiencies in vitamins A and E. This eye disorder affects the retina, the part of the eye that receives light. For patients with retinitis pigmentosa, retinal cells slowly deteriorate, resulting in a progressive loss of vision. One of the first symptoms of this eye condition is nighttime vision loss, and this is typically noticeable in childhood. As the disorder advances, patients start to have blind spots in their peripheral vision, and this eventually produces tunnel vision. Over the course of years or decades, central vision is also impacted, making it difficult to perform daily tasks such as writing, reading, and driving. Some patients may also have difficulty with facial recognition. The majority of patients with retinitis pigmentosa become legally blind by the time they are adults. Optical aids, retinal prostheses, and some surgical interventions may be useful for patients with this condition.

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