How Abetalipoproteinemia is Diagnosed?

How Abetalipoproteinemia is Diagnosed?

·         Stomach problems of the infant can serve as early clues for diagnosing Abetalipoproteinemia.

·         Stools of the infact are to be tested to check if there is high level of fat (since the fat will be excreted by the body rather than using )

·         Diagnosis will be done through blood tests

·         Under a microscope, abetalipoproteinemia patient’s sample will show abnormal red blood cells.

·         In the blood, there will be low levels of fat like triglycerides, cholesterol, etc.

·         Clotting time tests and iron level tests will also be abnormal

·         Inflammation of the eye i.e. retinitis will be noticeable in case of eye examination

·         Abnormal results will be seen in muscle strength & contraction tests.