Definition

Xanthoma is a skin disorder characterized by the formation of fat deposits beneath the skin’s surface. These fat deposits can develop in various regions of the body, though they commonly occur around the joints, such as the knees and elbows, as well as on the feet, hands, and buttocks. Xanthomas vary in size, ranging from small formations similar in size to soybeans to larger ones resembling grapes, with those exceeding 7.5 cm in diameter being classified as large.

Xanthomas typically appear as flat-topped nodules under the skin and are yellow or orange in color. While they rarely cause discomfort, certain cases may involve itching or slight pain upon pressure. They often appear in clusters in a single area or may spread to multiple regions of the skin.

Xanthelasma palpebra, a form of xanthoma that occurs on the eyelids, is the most commonly observed type in some patients. This type of xanthoma frequently appears without any associated underlying disease.

Xanthoma can occur across all age groups, though it is more prevalent in individuals over 20 who have systemic conditions, such as familial hypercholesterolemia—a genetic condition marked by elevated cholesterol levels. About 75% of elderly individuals with familial hypercholesterolemia exhibit visible signs of xanthoma.

Cause

Xanthoma typically arises from elevated blood fat levels. Such high levels of blood fats may indicate various underlying medical conditions, including:

• Hyperlipidemia (elevated blood cholesterol)
• Diabetes (elevated blood sugar)
• Hypothyroidism (reduced thyroid hormone)
• Primary biliary cirrhosis (bile duct dysfunction in the liver)
• Cholestasis (disruption of bile flow from the liver organ)
• Nephrotic syndrome (kidney blood vessel disorder)
• Cancer
• Pancreatitis (inflammation of the pancreas)
• Side effects from specific medications (such as tamoxifen, prednisone, and cyclosporine).

Although xanthomas are not generally dangerous or life-threatening, further investigation into the underlying cause is often necessary. Xanthomas located on the eyelids are specifically referred to as xanthelasma.

Risk Factor

Certain factors can heighten the likelihood of developing xanthoma, including:

• Presence of an underlying medical condition linked to xanthoma formation, such as hyperlipidemia, diabetes, hypothyroidism, primary biliary cirrhosis, cholestasis, nephrotic syndrome, cancer, pancreatitis, or as a side effect of particular drugs (like tamoxifen, prednisone, and cyclosporine)
• Elevated cholesterol or triglyceride levels in the blood

It is advisable to consult a healthcare provider if you possess any of these risk factors to reduce the likelihood of future xanthoma formation.

Symptoms

The clinical signs and symptoms of xanthoma may vary among individuals. Generally, xanthoma resembles a pimple with a flat top, defined borders, and a yellow to orange hue. It may present as a solitary nodule or in groups, forming clusters in particular skin areas. Possible symptoms include mild itching or tenderness when pressed, though many cases present no specific symptoms.

Diagnosis

The diagnosis of xanthoma typically involves a comprehensive medical history, physical examination, and additional tests when necessary. During the medical interview, patients should clearly communicate their symptoms to the physician. The physical examination allows the doctor to evaluate and investigate the complaints presented. In the case of xanthoma, the physician will observe the characteristic clinical appearance of flat-topped, yellow to orange lumps.

To confirm the presence of fat deposits beneath the skin, the doctor may perform supporting examinations, such as a skin biopsy. This procedure entails the physician taking a tissue sample from the affected area and sending it to a laboratory for further analysis. Additionally, the doctor might request blood tests to assess lipid levels, liver function, and blood sugar levels, which can help identify the underlying cause of the xanthoma.

Following the medical interview, physical examination, and any necessary tests, the physician will provide a definitive diagnosis and discuss the appropriate treatment options for the patient’s xanthoma.

Management

Xanthoma is often a clinical indicator of an underlying medical condition, necessitating the identification of the root cause. Once the underlying issue is determined, more targeted management can be implemented to reduce the likelihood of xanthoma reoccurrence or to prevent further growth. Maintaining normal and well-regulated blood sugar and cholesterol levels is associated with a lower risk of developing xanthoma.

If treatment is indicated to remove xanthomas, various methods may be employed, including surgical excision, laser therapy, or the application of chemical agents such as trichloroacetic acid, all performed by a qualified physician. Patients are encouraged to consult with their healthcare provider to discuss and select the most suitable treatment options, aiming for optimal outcomes based on the chosen approach.

Complications

Complications arising from xanthoma are generally quite rare, as the growths themselves are benign and painless. However, xanthomas can indicate an underlying medical condition, making early recognition essential for proper management. Identifying the root cause can help prevent potential complications associated with the underlying condition, thereby minimizing the risk of exacerbating the xanthoma.

Prevention

Xanthoma is often associated with elevated blood cholesterol and triglyceride levels. Therefore, several preventive measures can be undertaken to help lower these levels. Recommended strategies include:

• Avoiding foods high in saturated fats
• Consuming a balanced and nutritious diet
• Engaging in regular physical activity at least 3 to 5 times per week for a minimum of 30 minutes
• Avoiding tobacco use
• Ensuring adequate rest of at least 8 hours each night
• Effectively managing stress
• Regularly monitoring blood sugar and cholesterol levels

When to See a Doctor?

If xanthoma is present on the skin, it is advisable to seek further evaluation from a dermatologist and venereologist. The presence of xanthoma may indicate an underlying disease that necessitates appropriate treatment. The doctor will conduct a thorough medical interview, physical examination, and any required supporting tests to establish a definitive diagnosis and determine the necessary management for the underlying condition contributing to the formation of xanthoma.