What are the three most common symptoms of patients with homocystinuria?

In patients with homocystinuria, the three most common symptoms are intellectual disability, downward lens dislocation, and hypercoagulability.

Intellectual disability occurs due to the toxic effects of accumulated homocysteine on the brain, affecting cognitive development and function. Downward lens dislocation, also known as ectopia lentis, is a characteristic ocular finding in homocystinuria resulting from the abnormal connective tissue and weak zonules that support the lens. Hypercoagulability is a critical concern in patients with homocystinuria, as elevated levels of homocysteine are associated with an increased risk of thromboembolic events, leading to a predisposition for strokes and other vascular complications.

The other symptoms listed in the incorrect options do not align with the primary manifestations of homocystinuria. Shortened RBC lifespan, chronic diarrhea, and weight gain are not typical findings in this condition. Similarly, joint pain, fever, and rash, along with severe headaches, vomiting, and abdominal pain, are indicative of other medical issues rather than a metabolic disorder like homocystinuria. Understanding these core symptoms is essential for recognizing and diagnosing the condition early, which is crucial for management and prevention of complications.