Mendel Roth: Partial Lipodystrophy as a Cause of Severe Hypertriglyceridemia
Mendel Roth, Lead Scientist at GBinsight/GB HealthWatch, shared a post on LinkedIn:
“Partial lipodystrophy as a cause of severe hypertriglyceridemia (sHTG)
An underappreciated monogenic cause of sHTG is familial partial lipodystrophy (FPLD).
In people with sHTG and recurrent pancreatitis, the differential diagnosis often focuses on familial chylomicronemia syndrome (FCS). However, FPLD is substantially more prevalent (estimated 1 in 15,000, PMID: 42001615) and is usually inherited in an autosomal dominant manner. By contrast, FCS is inherited in an autosomal recessive manner with an estimated prevalence of 1 in 250,000.
FPLD can phenocopy FCS with severe hypertriglyceridemia and pancreatitis, but the underlying biology is different.
In FPLD, dysfunctional adipose tissue produces severe insulin resistance, ectopic lipid deposition, diabetes, and sHTG.
As summarized in the table below, the two major genetic subtypes (accounting for 98percent of cases, PMID: 42001615) are FPLD2 (Dunnigan type), caused by pathogenic LMNA variants, and FPLD3, caused by pathogenic PPARG variants.
Take home: FPLD3, the more common subtype, can readily be misdiagnosed as FCS due to severe metabolic dysfunction characterized by sHTG with acute pancreatitis and relatively mild fat loss in the extremities that may be missed on clinical exam (PMID: 36397776). Treatment for FPLD is currently focused on managing symptoms. The leptin analog, metreleptin, is approved in Europe for FPLD and is undergoing clinical evaluation in the US.”
Stay updated with Hemostasis Today.
-
Oct 12, 2026, 17:39Annie Bauzon: Differentiating Direct and Indirect Coombs Tests in Hematology
-
Oct 12, 2026, 17:15Cedric Hermans: Identifying and Diagnosing Hemophilia Carriers and Affected Females
-
Oct 12, 2026, 17:01Bianca Rocca: Evaluating Factor XI Inhibition Lessons from LIBREXIA-ACS
-
Oct 12, 2026, 13:58Francisco Chacón-Lozsán: Catastrophic Antiphospholipid Syndrome A Rapidly Progressive Multiorgan Thrombotic Emergency
-
Oct 12, 2026, 12:50Nawsherwan Mohammad: Study Examines Thrombotic Events in Patients with Polycythemia Vera in Iraq
-
Oct 12, 2026, 12:30Chanakya Nayudu: Looking Beyond Blood Clots – Patient-Reported Outcomes in Antiphospholipid Syndrome
-
Oct 12, 2026, 12:12Jean-Jacques Kiladjian: Improving Treatment Strategies with JAK Inhibitors in Myelofibrosis
-
Oct 12, 2026, 12:04Chloe Homich: AABB Annual Meetings – Building Connections and Advancing Transfusion Medicine
-
Oct 12, 2026, 11:51Daniel Sop: Sickle Cell Research Takes Center Stage at ASCAT 2026