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What is A patient presented with headache and flushing. He has a family history of his relative having died of a Medullary ca of thyroid. . The investigation that would be required for this patient would be: and explain in detail?
Diagnosis is MEN-2 Syndrome Pt is having symptoms of Pheochromocytoma MEN-2- Aka MEN 2A / Sipple syndrome- Autosomal dominant- Characterized by* Medullary carcinoma thyroid* Pheochromocytoma* Parathyroid hyperplasia / Adenoma* Hirschsprung disease* Cutaneous lichen amyloidosis- Gene responsible* Mutation of RET oncogene located on chromosome 10* Mutated codon - Cysteine codon Investigations- Most sensitive Screening test - Urinary catecholamines & VMA level- Best test for diagnosis - Fractionated plasma metanephrines- Radiological IOC for Adrenal pheochromocytoma- Radiological IOC for Extra adrenal pheochromocytoma MRI- Radiological IOC for pheochromocytoma in pregnancy- MIBG scan - useful for diagnosis of extra adrenal pheochromocytoma- FNAC and biopsy - contraindicated in pheochromocytoma as they can lead to hypeensive crisis