Diagnose Genetic or Syndromic Causes of Obesity, Evaluating, Examining & Diagnosing Patients, Obesit

Описание: An 81-year-old man with lifelong severe obesity, childhood-onset hyperphagia, progressive vision and hearing loss, urinary issues, exertional dyspnea, and a history of consanguinity presents to clinic. What clinical features and family history clues should guide your diagnostic reasoning in complex multisystem obesity? How do these findings shape prevention priorities for minimizing future health risks over the next several years?

VIDEO INFO
Category: Diagnose Genetic or Syndromic Causes of Obesity, Evaluating, Examining & Diagnosing Patients, Obesity Medicine
Difficulty: Expert - Expert level - For those seeking deep understanding
Question Type: Prevention - Preventive measures and screening
Case Type: Typical Presentation

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QUESTION
An 81-year-old man is referred to a multidisciplinary obesity genetics conference after decades of severe obesity and progressive multisystem disease, with the referring clinician asking whether a unifying syndromic diagnosis should change prevention priorities for the next several years. He reports that obesity began in early childhood with persistent hyperphagia....

OPTIONS
A. Implement a kidney-risk prevention plan with nephrology co-management, including urine albumin-to-creatinine ratio and serum creatinine/eGFR every 3-6 months, blood pressure optimization with an ACE inhibitor or ARB if tolerated, structured nephrotoxin avoidance (including NSAIDs), and contrast-e...
B. Implement a cardiomyopathy prevention plan with cardiology co-management, including transthoracic echocardiography every 6-12 months, early initiation of guideline-directed medical therapy for LV remodeling (beta blocker plus ACE inhibitor), and ambulatory rhythm monitoring if symptoms recur, coo...
C. Implement a vision-loss prevention plan with retina-specialist co-management, including dilated retinal examination with OCT and fundus autofluorescence every 6-12 months, cataract-surgery referral when functionally limiting, and early low-vision rehabilitation enrollment, coordinated through an ...
D. Implement an obstructive sleep apnea prevention plan with sleep-medicine co-management, including expedited CPAP re-titration, objective adherence downloads monthly for 3 months, repeat nocturnal oximetry within 8-12 weeks, and escalation to bilevel ventilation if persistent hypoxemia is document...

CORRECT ANSWER
A. Implement a kidney-risk prevention plan with nephrology co-management, including urine albumin-to-creatinine ratio and serum creatinine/eGFR every 3-6 months, blood pressure optimization with an ACE inhibitor or ARB if tolerated, structured nephrotoxin avoidance (including NSAIDs), and contrast-exposure planning across all care settings.

EXPLANATION
"Implement a kidney-risk prevention plan with nephrology co-management, including urine albumin-to-creatinine ratio and serum creatinine/eGFR every 3-6 months, blood pressure optimization with an ACE inhibitor or ARB if tolerated, structured nephrotoxin avoidance (including NSAIDs), and contrast-exposure planning across all care settings." This is the best prevention-focused intervention over the next 1-3 years because the confirmed syndromic diagnosis (biallelic BBS10 pathogenic variants consistent with Bardet-Biedl syndrome) meaningfully changes which future complications are most actionable and most morbid in a short time horizon....


Further reading:

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