Thromboembolic tendency increases in direct proportion to the magnitude and duration of homocysteine elevation. Left untreated there is a 30% chance of a vascular event by age 20 rising to 50% by the age of 30.
Lens subluxation is a hallmark of homocystinuria and is detectable in approximately 70% of untreated patients by the age of 10 and in over 90% diagnosed later.
Skeletal and connective tissue disorders affect approximately 50% of patients, and may variably include elongated long bones (‘Marfanoid’ body habitus), arachnodactyly, joint laxity, osteopenia, scoliosis and vertebral collapse.
Learning disabilities are not universal or may be subtle and, when present, include global intellectual impairment, specific learning disabilities such as autism and behavioural disturbance.
Reference
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