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    This case report describes a 41-year-old man found to have high triglyceride levels of 16.65 mmol/L during routine cardiac testing. Fenofibrate treatment did not lower his triglyceride levels, measured again at 13.26 mmol/L, prompting reevaluation of the cause. The man has a history of glycerol kinase deficiency, a rare genetic disorder where the enzyme glycerol kinase is deficient, resulting in glycerol buildup. Literature review revealed glycerol kinase deficiency can cause pseudohypertriglyceridemia, an overestimation of triglyceride levels by indirect laboratory assays affected by elevated glycerol, incorrectly reporting high triglyceride levels

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    A rare cause of Hypertriglyceridemia (002)

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    This case report describes a 41-year-old man found to have high triglyceride levels of 16.65 mmol/L during routine cardiac testing. Fenofibrate treatment did not lower his triglyceride levels, measured again at 13.26 mmol/L, prompting reevaluation of the cause. The man has a history of glycerol kinase deficiency, a rare genetic disorder where the enzyme glycerol kinase is deficient, resulting in glycerol buildup. Literature review revealed glycerol kinase deficiency can cause pseudohypertriglyceridemia, an overestimation of triglyceride levels by indirect laboratory assays affected by elevated glycerol, incorrectly reporting high triglyceride levels

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    6 views1 page

    A Rare Cause of Hypertriglyceridemia

    Uploaded by

    fardeenkhan3551
    This case report describes a 41-year-old man found to have high triglyceride levels of 16.65 mmol/L during routine cardiac testing. Fenofibrate treatment did not lower his triglyceride levels, measured again at 13.26 mmol/L, prompting reevaluation of the cause. The man has a history of glycerol kinase deficiency, a rare genetic disorder where the enzyme glycerol kinase is deficient, resulting in glycerol buildup. Literature review revealed glycerol kinase deficiency can cause pseudohypertriglyceridemia, an overestimation of triglyceride levels by indirect laboratory assays affected by elevated glycerol, incorrectly reporting high triglyceride levels

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    © All Rights Reserved
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    A rare cause of Hypertriglyceridemia- Glycerol Kinase Deficiency

    Qudrat Marwat (Specialty Registrar- Endocrinology and Diabetes Mellitus)


    Ryizan Nizar (Consultant-Endocrinology and Diabetes Mellitus)

    Case Presentation:
    We report the case of a 41-year-old Caucasian male, who was known to to the Endocrine
    team for Congenital Adrenal Hypoplasia. He also has a background history of Gene deletion
    on X chromosome, Undescended testes corrected in 1996, Hypogonadism secondary to the
    above, Baker’s muscular dystrophy, Glycerol kinase deficiency, Epilepsy, Cardiomyopathy,
    mild renal impairment.

    He is under cardiology team for DCM. On their routine testing he was found to have high
    triglycerides at 16.65 mmol/L (0 – 1.7). Cardiology team then sought further advice from us.

    We went on to repeat the Triglycerides and they were persistently high. Subsequent, to this
    he was started on Fenofibrates. His triglycerides were repeated few weeks after and this
    was still elevated with no change at 13.26 mmol/L.

    This led us to re-look at the causes of high triglycerides. At this point we wondered if
    this could be related to Glycerol Kinase deficiency.

    After quick literature review, we found out that, Glycerol kinase deficiency (GKD) also
    known as Hyperglycerolemia, is a rare genetic disorder where the enzyme glycerol kinase is
    deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for,
    synthesizing triglycerides and glycerophospholipids in the body.

    Pseudohypertriglyceridemia is an overestimation of serum triglyceride levels that may,


    incorrectly lead to a diagnosis of hypertriglyceridemia. Laboratory assays that measure
    triglycerides indirectly may be affected by elevated glycerol levels and incorrectly report,
    serum triglyceride levels.

    Clinicians are often unaware of this laboratory condition; as a result, patients are subjected
    to aggressive hypolipidemic drugs and lifestyle changes, and these measures turn
    ineffective to lower triglyceride levels.

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