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April 5, 2026Clinical Case Reports0 citationsOpen Access

Milky Blood in a Middle‐Aged Man With Diabetes Mellitus: Familial Chylomicronemia Syndrome due to GPIHBP1 Mutation

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MSMukti Nath SankhiNBNaresh BansalSSSamir Samadarshi

Key Result

Severe hypertriglyceridemia resistant to standard therapy despite good glycemic control indicates a primary genetic cause like familial chylomicronemia syndrome.

Key Points

  • The aim is to highlight familial dyslipidemia syndromes in the context of diabetes and hypertriglyceridemia.
  • Evaluation of a middle-aged man with severe hypertriglyceridemia unresponsive to dietary and pharmacological interventions.
  • Genetic testing for GPIHBP1 mutation and family history assessment to confirm diagnosis.
  • Identified a GPIHBP1 mutation associated with familial chylomicronemia syndrome.
  • Confirmed significant hypertriglyceridemia, limited response to diet and common medications.

Structured PICO

P
Population
Middle-aged man with diabetes mellitus presenting with lipemic plasma and severe hypertriglyceridemia.
I
Intervention
Genetic testing and family history evaluation.
O
Outcome
Diagnosis of familial chylomicronemia syndrome due to GPIHBP1 mutation.

Severe hypertriglyceridemia unresponsive to standard therapy and good glycemic control in a diabetic patient should prompt investigation for primary genetic causes like familial chylomicronemia syndrome.

Abstract

ABSTRACT Diabetes mellitus is a common cause of secondary hypertriglyceridemia. However, lipemic plasma with severe hypertriglyceridemia, limited response to strict dietary measures, commonly used pharmacotherapy, and good glycemic control, should raise suspicion of a primary cause. Positive family history and genetic studies can give a diagnosis of familial dyslipidemia syndromes.

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Cite This Study

Sankhi et al. (2026) studied this question. Severe hypertriglyceridemia resistant to standard therapy despite good glycemic control indicates a primary genetic cause like familial chylomicronemia syndrome.

synapsesocial.com/papers/69d1fca7a79560c99a0a2563https://doi.org/10.1002/ccr3.72481
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