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Patient with new onset psychiatric/neuro issues and unexplained abdominal pain, family history of similar symptoms:

a) Porphyria; Avoiding triggers and supportive care
b) Wilson's disease; Penicillamine or trientine
c) Cystic fibrosis; Chest physiotherapy and pancreatic enzymes
d) Thalassemia; Blood transfusions

1 Answer

3 votes

Final answer:

The patient appears to have symptoms consistent with a hereditary or metabolic disorder, like porphyria or Wilson's disease, where neurological symptoms and abdominal pain are prominent. Porphyria is treated by avoiding triggers and supportive care, while Wilson's disease is treated with copper-chelating agents like penicillamine or trientine.

Step-by-step explanation:

The patient in question is presenting with new onset psychiatric/neuro issues and unexplained abdominal pain, with a family history of similar symptoms. Considering the symptoms and family history, we are looking at potential hereditary and metabolic disorders that could explain the clinical presentation. Among the options listed, porphyria is a group of disorders characterized by the accumulation of chemicals related to porphyrin production, which can cause neurological symptoms and abdominal pain. Wilson's disease is another hereditary condition where copper builds up in the body's tissues, leading to neurological symptoms and liver disease including hepatocellular damage and obstructive jaundice.

The symptoms provided could align with either condition, though Wilson's disease also often presents with other signs such as Kayser-Fleischer rings around the cornea. For porphyria, avoiding triggers and supportive care are essential, while for Wilson's disease, medications such as penicillamine or trientine are used to chelate copper.

Other conditions listed, like cystic fibrosis and thalassemia, have distinctive presentations and associated treatments, but they do not typically present with a combination of neurological issues and abdominal pain as primary symptoms.

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