Familial Lipid Disorders
Our familial lipid disorders specialists are here for you. Our team of lipid doctors near you are dedicated to supporting your success and ensuring that you regain your heart health and overall wellness.
What Are Familial Lipid Disorders?
Familial lipid disorders are inherited genetic conditions that cause abnormal levels of cholesterol, triglycerides, or both. Many are associated with a significantly increased risk of atherosclerosis, often leading to premature heart attacks and/or strokes. There are several different types of familial lipid disorders, including but not limited to:
Familial Hypercholesterolemia (FH): this is the most common inherited lipid disorder. It presents with markedly elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, typically over 190 mg/dL. The lifelong exposure to elevated LDL-C significantly increases the risk of premature atherosclerosis.
Familial Combined Hyperlipidemia: both LDL-C and triglycerides are high. Apolipoprotein B is disproportionately elevated when compared with LDL-C. This condition is also associated with premature atherosclerosis.
Familial Chylomicronemia Syndrome (FCS): causes extremely high triglycerides with levels over 500 mg/dL, and typically over 1000 mg/dL. This often results in pancreatitis, or inflammation of the pancreas, which can be life-threatening.
High Lipoprotein(a) (Lp(a)): a genetically inherited type of cholesterol-carrying particle in the blood that causes inflammation and clotting, leading to an increased risk of atherosclerotic cardiovascular disease and aortic valve disease.
Other: familial hypertriglyceridemia, dysbetalipoproteinemia, sitosterolemia, lysosomal acid lipase deficiency, disorders causing low high-density lipoprotein cholesterol (HDL-C)
These disorders may be asymptomatic until a cardiovascular event or pancreatitis occurs. There may be physical signs of high cholesterol, such as xanthomas (fatty, yellowish deposits under the skin, often on joints or tendons), xanthelasmas (fatty, yellowish deposits on eyelids), or corneal arcus (a white or gray ring around the iris of the eye).
What Are the Causes of Familial Lipid Disorders?
These conditions are caused by variants in genes which control the metabolism of cholesterol and/or triglycerides. FH is due to variants in genes responsible for LDL-C metabolism, whereas FCS is due to variants in genes responsible for triglyceride metabolism. Some of these conditions, while largely genetic, may also be significantly impacted by other factors such as lifestyle (diet, exercise), diabetes, and obesity.
What Are the Treatments and Therapies for Familial Lipid Disorders?
Early identification of these conditions is crucial, because early treatment can significantly lower the risk of a cardiovascular event or pancreatitis. Due to the genetic basis of these conditions, medications are often needed. The most effective medication may vary depending on the underlying condition. For FH, statins are the cornerstone of treatment, though additional medications which target LDL-C (e.g., ezetimibe, PCSK9 inhibitors, bempedoic acid) are often needed to adequately control LDL-C levels. Those conditions which affect triglycerides may require different classes of medications (e.g., fibrates, high-dose omega-3 fatty acids). Lifestyle changes are still extremely important, especially for conditions affecting triglycerides. FCS in particular requires a strict low-fat diet, and patients with this condition must work closely with a dietician.
Additionally, screening of family members for lipid disorders is strongly recommended to detect affected relatives before adverse events occur.
How Can Well by Messer Help You with Familial Lipid Disorders?
Well by Messer has experts in diagnosing and treating familial lipid disorders. If a familial lipid disorder is suspected, we obtain advanced lipid markers and genetic testing to make the diagnosis. Imaging to detect asymptomatic, or subclinical atherosclerosis (e.g., coronary artery calcium scoring, carotid artery ultrasound) may also be performed. Our physicians work closely with our dieticians and personal trainers to create comprehensive plans for lifestyle modifications, and medications are initiated as needed depending on the diagnosis. Lipid levels are monitored closely to ensure adequate lowering. If patients are experiencing symptoms of atherosclerosis, referrals for additional imaging or cardiology consultation are made.
Meet Your Well by Messer Team
Under the leadership of top endocrinologist in New York, Dr. Caroline Messer, our caring and talented team of board-certified endocrinologists (adult and pediatric), internists, gynecologists, urologists, psychologists, plastic surgeons, dietitians, and personal trainers will be dedicated to supporting your long-term health & wellness at our locations in Manhattan, Greenwich (CT), Great Neck (Long Island) and soon to be Miami (FL)!
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