Differential Diagnosis for Yellow Sclera in a Well 17-Year-Old Female

Single Most Likely Diagnosis

• Carotenemia: This condition is caused by a high intake of carotenoid-rich foods (such as carrots, sweet potatoes, and squash) and is characterized by a yellow discoloration of the skin and sclera. It is a benign condition and is more likely in a healthy individual without other symptoms.

Other Likely Diagnoses

• Bilirubinemia (Gilbert's syndrome): A mild liver disorder that affects the processing of bilirubin, leading to a slight increase in bilirubin levels, which can cause yellowing of the eyes and skin. It is a common condition and often presents in adolescence.
• Hemolytic anemia: Conditions that lead to the breakdown of red blood cells can increase bilirubin levels, causing jaundice. However, this would typically be accompanied by other symptoms such as fatigue, pale skin, and shortness of breath.

Do Not Miss Diagnoses

• Hepatitis: Infections or autoimmune conditions affecting the liver can cause significant elevations in bilirubin, leading to jaundice. Missing a diagnosis of hepatitis could lead to severe liver damage if not treated promptly.
• Pancreatic cancer: Although extremely rare in a 17-year-old, pancreatic cancer can cause obstructive jaundice. Given the potential severity of this diagnosis, it should not be missed, despite its low likelihood.
• Biliary atresia or other biliary tract disorders: These conditions involve obstruction of the bile ducts and can lead to jaundice. Early diagnosis is crucial for effective management.

Rare Diagnoses

• Dubin-Johnson syndrome: A rare genetic disorder that affects the liver's ability to transport bilirubin, leading to chronic jaundice.
• Crigler-Najjar syndrome: A rare condition characterized by a severe deficiency of the enzyme responsible for converting bilirubin into a water-soluble form, leading to very high levels of unconjugated bilirubin and jaundice.
• Porphyrias: A group of rare genetic disorders that can affect the production of heme, leading to the accumulation of porphyrins, which can cause a range of symptoms including jaundice.

Each of these diagnoses has a different level of likelihood and potential impact on the patient's health, emphasizing the importance of a thorough diagnostic approach to determine the underlying cause of yellow sclera in a well 17-year-old female.