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Integrating Clinical Genetics in Clinical Practice
Clinical Case
Clinical Case
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Video Transcription
Video Summary
The video transcript describes a clinical case of a 30-year-old woman who presented with hypertriglyceridemia and a near-death experience due to pancreatitis. The patient had a history of pancreatitis in her 20s and was diagnosed with hypertriglyceridemia. She followed a low-fat diet and took medication to manage her condition. However, after attending several events with dietary indiscretion and alcohol consumption, she developed severe pancreatitis and required multiple procedures, including bowel resection. The patient's physical examination revealed muscular features without subcutaneous fat, indicating a heritable condition called lipodystrophy. Further evaluations, such as genetic testing, confirmed the diagnosis of familial partial lipodystrophy, specifically Dunnigan type. The patient and her parents were relieved to receive a definitive diagnosis, but the disorder's complications persisted, with nutritional issues, hernia, osteoporosis, and anemia emerging. Regular monitoring and management were recommended, as well as family screening. The case highlights the importance of early diagnosis to prevent severe complications. However, the patient's second pancreatitis episode occurred before a diagnosis was made.
Keywords
clinical case
hypertriglyceridemia
pancreatitis
lipodystrophy
early diagnosis
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