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Lipid Metabolism and Disorders / Diabetes, Cardiovascular Risks, and Lipoproteins · Journal article
Bali Medical and Wellness Journal · August 16, 2026
Early or partial results. Treat as a signal, not a conclusion.
This case series documents marked phenotypic heterogeneity in familial hypertriglyceridemia within a single family of four members managed with fenofibrate, illustrating variable treatment response and diverse clinical comorbidities despite shared genetic predisposition. The observations suggest that secondary factors and individual factors modulate disease expression and pharmacological response, but the single-family, uncontrolled design precludes firm conclusions about treatment efficacy or prognosis.
Descriptive case series. Four related individuals (one mother and three adult children) with familial hypertriglyceridemia managed in clinical practice with fenofibrate.. Intervention: Fenofibrate (dosage and duration not specified); omega-3 fatty acids and lifestyle modification substituted for youngest daughter during pregnancy.. n = 4.
Four family members exhibited triglyceride levels ranging from 118–1061 mg/dL despite all receiving fenofibrate therapy. The proband (63-year-old mother) achieved therapeutic target <150 mg/dL with fenofibrate despite significant cardiovascular comorbidities. The youngest daughter exhibited persistent very severe hypertriglyceridemia (TG 1061 mg/dL, ≥1000 mg/dL threshold) despite fenofibrate, requiring substitution with omega-3 fatty acids during pregnancy.
The 33-year-old male sibling developed premature microvascular dysfunction and type 2 diabetes mellitus despite pharmacotherapy for persistent severe hypertriglyceridemia.
This case series emphasizes the importance of cascade screening and individualized lipid management within families with FHTG, particularly given marked phenotypic heterogeneity and variable treatment response. However, clinicians should recognize that observations from a single family cannot guide population-level treatment strategies, and management decisions should rely on established guidelines and evidence from larger trials.
A descriptive case series of four family members illustrating phenotypic heterogeneity in familial hypertriglyceridemia; generates clinical observations but lacks a control group, formal hypothesis testing, or quantified outcomes to establish treatment efficacy or prognosis.
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Quoted from the source exactly as published.
This case series emphasizes the importance of cascade screening and individualized lipid management within families with FHTG, particularly given marked phenotypic heterogeneity and variable treatment response. However, clinicians should recognize that observations from a single family cannot guide population-level treatment strategies, and management decisions should rely on established guidelines and evidence from larger trials.
Graded across the dimensions that decide whether you should act, each from what the source actually supports. There is no single score, and where a dimension was not assessed it says so.
Background: Familial hypertriglyceridemia (FHTG) is a common autosomal dominant lipid disorder characterized by elevated plasma triglycerides (TG). According to the AHA/ACC 2018 and ESC/EAS 2019 guidelines, TG levels are classified as borderline high (150–199 mg/dL), high (200–499 mg/dL), severe (500–999 mg/dL), or very severe (≥1000 mg/dL). Its clinical expression is highly variable even within the same family, influenced by secondary factors including diet, obesity, diabetes, alcohol intake, and medications. Case Description: We present a case series of four family members — a 63-year-old mother (proband) and her three children aged 28, 33, and 41 years — all exhibiting hypertriglyceridemia with markedly different TG levels (118–1061 mg/dL), comorbidity burden, and clinical outcomes. Target TG levels for therapy are <150 mg/dL (normal), or <500 mg/dL as an urgent target to prevent acute pancreatitis in patients with severe hypertriglyceridemia. All family members are currently managed with fenofibrate, with variable degrees of TG control: the mother has achieved the therapeutic target (<150 mg/dL), the first daughter and brother demonstrate persistent elevation above target despite pharmacotherapy, and the youngest daughter exhibits persistent severe hypertriglyceridemia despite pharmacotherapy (TG 1061 mg/dL, far exceeding the ≥1000 mg/dL very-severe threshold). Discussion: This family illustrates the remarkable phenotypic heterogeneity of FHTG. The proband has achieved good TG control despite significant cardiovascular comorbidities, while the youngest sibling presented with persistent severe hypertriglyceridemia complicated by pregnancy, necessitating substitution of fenofibrate with omega-3 fatty acids and lifestyle modification. The 33-year-old male sibling developed premature cardiovascular disease (microvascular dysfunction) and type 2 diabetes mellitus (T2DM) at a young age, underscoring the metabolic risks associated with persistent severe hypertriglyceridemia despite pharmacotherapy. Analysis of extended family lipid profiles — including LDL-cholesterol, HbA1c, HDL-cholesterol, and uric acid — further reveals the spectrum of atherogenic dyslipidemia within these kindred. Conclusion: Cascade screening of first-degree relatives of patients with FHTG is critical, with particular urgency in Asian populations given distinct dietary patterns and genetic predispositions to hypertriglyceridemia. Management must be individualized, particularly in special populations such as pregnant women. This case series highlights the necessity of long-term, family-centered approaches to lipid management.
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