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Understanding Inherited Lipodystrophy: Causes, Symptoms, Diagnosis, and Treatment

Jerome Albert Ecker | MD

Medically reviewed by Jerome Albert Ecker | MD, Assistant Professor of Medicine, Duke University - Durham, NC on June 4th, 2023.

Key Takeaways

  • Two main types exist: congenital generalized (affecting entire body from birth) and familial partial (affecting specific areas like arms, legs, and trunk during puberty).

  • Patients develop severe insulin resistance requiring 10-20 times normal insulin doses, plus triglyceride levels often exceeding 1,000 mg/dL (normal is under 150 mg/dL).

  • The condition affects only 1 in 10 million people globally, with mutations in genes like LMNA, PPARG, and AKT2 disrupting normal fat cell development and survival.

  • Metreleptin (synthetic leptin hormone) injections can reduce triglycerides by 60% and improve insulin sensitivity within 6 months of treatment.

  • Life-threatening complications include pancreatitis from extremely high triglycerides, cirrhosis from fatty liver disease, and diabetic ketoacidosis despite having type 2 diabetes features.

Inherited lipodystrophy is a rare genetic condition that affects the way the body uses and stores fat. People with this condition are born with it, as it is caused by genes inherited from one or both parents. Lipodystrophy can lead to a loss of fat under the skin, resulting in changes to a person's appearance. It can also cause other health problems, such as diabetes, high cholesterol, and fatty liver disease.

Types of Inherited Lipodystrophy

There are two main types of inherited lipodystrophy:

  1. Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome

  2. Familial partial lipodystrophy (FPL)

Causes of Inherited Lipodystrophy

Researchers have identified several genes that cause inherited lipodystrophy. In some cases, inheriting a single faulty gene from one parent can lead to the condition, while in other cases, a person must inherit a faulty gene from each parent. It is also possible to have a faulty gene but not develop the condition.

Symptoms of Inherited Lipodystrophy

The symptoms of inherited lipodystrophy vary depending on the specific subtype and can range in severity. Some common symptoms include:

  • Loss of body fat, leading to a muscular appearance

  • Enlarged liver

  • Difficulty controlling blood sugar and triglyceride levels

  • Dark, thick, and velvety skin in certain areas (acanthosis nigricans)

  • Enlarged hands, feet, and jawbone (in CGL)

  • Irregular menstrual periods or polycystic ovary syndrome (PCOS) in women

  • Metabolic changes

  • Insulin resistance

  • Diabetes

  • High triglycerides

  • High blood pressure

  • Cardiomyopathy

  • Fatty liver

  • Pancreatitis

Understanding Inherited Lipodystrophy: Causes, Symptoms, Diagnosis, and Treatment

Diagnosing Inherited Lipodystrophy

To diagnose inherited lipodystrophy, your doctor will review your family history, perform a physical examination, and may recommend various tests, such as:

  • Blood tests to check blood sugar, kidney health, cholesterol, and triglyceride levels

  • Urine tests to check for kidney problems

  • X-rays to assess bone health

  • Skin biopsy to examine skin cells under a microscope

  • Genetic testing to identify specific faulty genes

  • Low leptin levels

Treatment Options for Inherited Lipodystrophy

While there is no cure for inherited lipodystrophy, treatment focuses on managing the complications associated with the condition. Some treatment options include:

  • Maintaining a healthy lifestyle with a low-fat diet and regular exercise

  • Metreleptin (Myalept) injections to replace missing leptin (for CGL)

  • Statins and omega-3 fatty acids to control high cholesterol and triglycerides

  • Insulin or other medications to manage diabetes

  • Plastic surgery or liposuction to address changes in appearance (in some cases)

It is essential to work closely with your doctor to develop an individualized treatment plan that addresses your specific needs and helps prevent serious complications.

Coping with Inherited Lipodystrophy

Living with inherited lipodystrophy can be challenging, both physically and emotionally. It is important to focus on maintaining your child's health and providing them with a supportive and understanding environment. Encourage open communication, boost their self-esteem, and consider seeking professional counseling to help your family cope with the challenges of this condition.

Remember, you are not alone. Organizations like Lipodystrophy United offer information, support, and online communities for individuals and families affected by lipodystrophy. Participating in research studies and registries can also help advance our understanding of this rare condition and lead to the development of new treatment options.

For more information on inherited lipodystrophy, visit:

The Bottom Line

Early genetic testing and aggressive metabolic management are crucial since untreated cases often develop life-threatening complications by age 30. Specialized endocrinology teams can prescribe metreleptin and other targeted therapies that weren't available even a decade ago. If you're experiencing unexplained fat loss combined with diabetes symptoms, Doctronic can help connect you with genetic testing and specialist referrals quickly.

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