A 35-year-old woman presents to the emergency department with sudden-onset severe pain in her abdomen. She describes the pain as tearing and radiating to her back. The patient reports a history of easy bruising, translucent skin, joint hypermobility, and recurrent dislocations. Her family history is notable for similar symptoms in her mother and grandmother. On examination, the patient has hyperextensible skin with atrophic scars, and there is a visible bruise on her forearm. Blood pressure measurements in both arms reveal a significant difference. Further investigations, including imaging studies, show evidence of a dissecting aneurysm in the thoracic aorta.
Based on the clinical presentation and family history, what is the most likely diagnosis for this patient?
A. Polycystic Kidney Disease
B. Loeys-Dietz syndrome
C. Vascular Ehlers-Danlos syndrome (VEDS)
D. Marfan syndrome

Question

03-06-2024
Medicine

Answered

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A 35-year-old woman presents to the emergency department with sudden-onset severe pain in her abdomen. She describes the pain as tearing and radiating to her back. The patient reports a history of easy bruising, translucent skin, joint hypermobility, and recurrent dislocations. Her family history is notable for similar symptoms in her mother and grandmother. On examination, the patient has hyperextensible skin with atrophic scars, and there is a visible bruise on her forearm. Blood pressure measurements in both arms reveal a significant difference. Further investigations, including imaging studies, show evidence of a dissecting aneurysm in the thoracic aorta.
Based on the clinical presentation and family history, what is the most likely diagnosis for this patient?
A. Polycystic Kidney Disease
B. Loeys-Dietz syndrome
C. Vascular Ehlers-Danlos syndrome (VEDS)
D. Marfan syndrome

Sagot :

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