History and exam

Other diagnostic factors

common

age 0 to 12 years

Patients typically present in infancy and childhood with faltering growth and malabsorption. If presenting later in life, patients endure progressive neurological deterioration.[2]

steatorrhoea/diarrhoea

Often found in infancy and is usually pronounced, with foul-smelling stools that contain chunks of fat and blood.[2]

low weight

Often found in infancy and childhood. The malabsorption and diarrhoea lead to faltering growth.[1]

muscle weakness

Often found in patients with progressive disease.[2][19]

muscle contractions

Patients can have either upper or lower motor neuron findings or both.[2][6] Often found in patients with progressive disease. May lead to kyphoscoliosis.[19]

loss of deep tendon reflexes

May be an early clinical sign.[19]

ataxia

Vitamin E deficiency culminates in spinocerebellar degeneration with ataxia. This generally develops in the second decade if there has been no intervention.[2]

dysmetria

Vitamin E deficiency results in a compromise of posterior column function with loss of proprioception.[2][19] Often found in patients with progressive disease.

Poor coordination resulting in over- or under-shooting the intended position of the hand, arm, leg, or eye. On neurological examination, altered position and vibration senses and altered pinprick and temperature sensations are found.

dysarthria

Vitamin E deficiency results in cerebellar dysfunction.[2][19] Often found in patients with progressive disease.

night blindness

Often reported as the first symptom of retinal degeneration.[2]

poor eyesight

Complete loss of vision can ultimately occur.[19]

ophthalmoplegia

Often found in patients with progressive disease. Presumably develops as a result of demyelination of cranial nerves due to the vitamin E deficiency.[2]

fatigue

If anaemia has developed as a consequence of deficiencies of iron, folate, and other nutrients secondary to fat malabsorption.[19]

pale skin

If anaemia has developed as a consequence of deficiencies of iron, folate, and other nutrients secondary to fat malabsorption.[19]

uncommon

optic disc swelling

Atypical pigmentary retinopathy with bilateral optic disc swelling has been reported.[22]

hepatomegaly

Hepatic steatosis may be present; in rare cases liver disease may progress to cirrhosis requiring liver transplantation.[15][17][18]

Risk factors

strong

genetic

Patients with parents or other family members who are carriers for abetalipoproteinaemia are at increased risk.[2]

consanguineous parents

Abetalipoproteinaemia is inherited in a recessive pattern. As such, there is a higher frequency of this disorder in populations with a high incidence of consanguineous marriages.[2][20]

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