Hypertriglyceridemia Clinical Presentation

Updated: Jul 23, 2021
  • Author: Mary Ellen T Sweeney, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Presentation

History

The US Preventive Services Task Force (USPSTF) includes the following as risk factors for a 10-year risk of cardiovascular events in patients with dyslipidemias, including hypertriglyceridemia and hyperlipoproteinemia [38] :

  • Diabetes

  • History of coronary heart disease (CHD) or noncoronary atherosclerosis (eg, abdominal aortic aneurysm, peripheral artery disease, carotid artery stenosis)

  • Family history of cardiovascular disease before age 50 years in male relatives or age 60 years in female relatives

  • Tobacco use

  • Hypertension

  • Obesity (body mass index [BMI] >30 kg/m2)

In addition to the risk factors above, the American Association of Clinical Endocrinologists (AACE) includes the following as major risk factors for dyslipidemia and atherosclerosis [39] :

  • Elevated serum total cholesterol levels

  • Elevated levels of non–high-density lipoprotein (non–HDL) levels

  • Elevated low-density lipoprotein (LDL) levels

Gastrointestinal symptoms

Hypertriglyceridemia is usually asymptomatic until triglycerides are greater than 1000-2000 mg/dL. Patients may report pain, which is commonly mid epigastric but may occur in other regions, including the chest or back.

A history of recurrent episodes of acute pancreatitis is common in patients with severe and uncontrolled hypertriglyceridemia. [40] Triglyceride levels often exceed 5000 mg/dL at the onset of pancreatitis.

A study by Vipperla et al indicated that in patients with hypertriglyceridemia-related acute pancreatitis, secondary risk factors, including diabetes, high-risk drinking, obesity, and specific medications, are highly prevalent, with at least one secondary risk factor occurring in 78% of the study’s patients. [41]

Patients with recurrent episodes of abdominal pain that is less severe than acute pancreatitis may experience the chylomicronemia syndrome. [42] Affected patients usually have triglyceride elevations greater than 2000 mg/dL at the onset of symptoms and provide a history of recurrent episodes of abdominal pain, sometimes with nausea, vomiting, or dyspnea. Pancreatitis is not necessarily present. The presentation of hyperchylomicronemia may be confused with conditions such as acute myocardial syndromes or biliary colic.

Dermatologic symptoms

Severe hypertriglyceridemia may cause skin lesions called xanthomas. Patients may report the appearance of any of the following types of xanthomas:

  • Xanthoma striata palmaris: Orange-yellow discolorations of the palmar creases, which in some cases are raised; considered pathognomonic for dysbetalipoproteinemia

  • Tuberoeruptive xanthomas: Nonpainful, raised, erythematous, nodular lesions approximately 0.5 cm in diameter; may be present on the elbows and knees

  • Tuberous xanthomas: Larger, coalesced tuberoeruptive xanthomas; raised, moderately firm, nontender lesions predominantly on the elbows and knees

  • Tendon xanthomas: Occur infrequently; more common in familial hypercholesterolemia

  • Eruptive xanthomas: Small nodular papules commonly seen over the trunk, buttocks, and thighs; associated with chylomicronemia syndrome

Ophthalmologic symptoms

Uncommonly, patients may also note the presence of a corneal arcus, which is a grayish white opacification at the periphery of the cornea and/or xanthelasmas, which are pale yellow, raised lesions around the eyelids.

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Physical Examination

When triglycerides are less than 1000 mg/dL, the physical findings are normal unless the underlying condition is dysbetalipoproteinemia, type III hyperlipoproteinemia. In this condition, palmar xanthomas may be discerned infrequently.

When triglycerides are acutely and massively elevated, physical findings may be absent except on funduscopic examination. Therefore, physical findings in patients with severe hypertriglyceridemia are variable, ranging from normal to one or more of the findings discussed below.

In patients with peripheral vascular disease, the pedal pulses or ankle/brachial index may be decreased.

Gastrointestinal

If pancreatitis or the chylomicronemia syndrome is present, the mid epigastric area or upper right or left quadrants are tender to palpitation. Hepatomegaly and, less commonly, splenomegaly may be appreciated.

Dermatologic

Eruptive xanthomas (see the images below) are sometimes found when sustained elevated triglycerides are well above 1000 mg/dL. These are 1- to 3-mm yellow papules on an erythematous base that are most prominent on the back, buttocks, chest, and proximal extremities. The lesions are caused by accumulations of chylomicrons within macrophages and disappear gradually when triglycerides are kept below 1000 mg/dL.

Eruptive xanthomas on the back of a patient admitt Eruptive xanthomas on the back of a patient admitted with a triglyceride level of 4600 mg/dL and acute pancreatitis.
Close-up of eruptive xanthomas. Close-up of eruptive xanthomas.

Patients with dysbetalipoproteinemia (type III) may have palmar xanthomas (yellowish creases of the palms). This type of xanthoma is considered pathognomonic for this disorder. Tuberous or tuberoeruptive xanthomas, which also may occur in other hyperlipidemias, may arise on the elbows, knees, or buttocks.

Ophthalmologic

Corneal arcus, lipemia retinalis, and xanthelasma are the most common ocular abnormalities. [2] Triglyceride levels of 4000 mg/dL or higher may cause lipemia retinalis, in which funduscopic examination reveals retinal blood vessels (and occasionally the retina) that have a pale pink, milky appearance.

The ocular changes are usually not seen until the triglyceride level reaches at least 2000 mg/dL in the early stages; they are best observed in the peripheral fundus. The vessels initially appear salmon-pink, but when the triglyceride level rises further, they become whitish. These changes, which begin in the periphery, progress toward the posterior pole as the triglyceride level rises. In severe cases, the vessels are creamy white, and differentiating the arteries from the veins is difficult. The findings can fluctuate widely from day to day, depending on the triglyceride level.

Xanthelasma is a deposition of lipid in the eyelid, usually the upper medial lid. The lesions may be excised, but recurrences are common. Current treatments include serial excisions, the use of carbon dioxide and erbium lasers, and trichloroacetic acid peels. With primary excisions, recurrences of up to 40% have been reported, and secondary excision recurrences are even higher. [43] Of the initial failures, 20% are within the first year. [44]

The fundus abnormalities, which improve as the triglyceride levels return to normal, provide a method of following the patient's course and response to therapy.

Neurologic

Memory loss, dementia, and depression have been reported in patients with the chylomicronemia syndrome.

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