Definition

Lipodystrophy is characterized by the loss of all or some adipose (fat) tissue in certain body parts. There are several types of lipodystrophy, namely those that are genetic (caused by genetic mutations) or acquired (caused by other conditions). The type of lipodystrophy affects people differently and has various symptoms.

There are several types of lipodystrophy, which are divided into two main categories: genetic and acquired.

The genetic forms of lipodystrophy include:

• Congenital Generalized Lipodystrophy (CGL): Also known as Berardinelli-Seip syndrome, CGL is a rare type of lipodystrophy characterized by significant, and sometimes nearly complete, fat loss. This condition is caused by genetic mutations present from birth and is often diagnosed within the first year of life.
• Familial Partial Lipodystrophy (FPLD): FPLD is also genetic (inherited) and is often diagnosed later in a child's life. Fat loss primarily affects the legs and arms, with excess fat accumulation in the face and neck.

The acquired forms of lipodystrophy include:

• Acquired Generalized Lipodystrophy (AGL), also known as Lawrence syndrome, typically causes fat loss in the face, neck, arms, and legs.
• Acquired Partial Lipodystrophy (APL), also known as Barraquer-Simons syndrome, is characterized by gradual fat loss from the face, neck, arms, and chest during childhood. Some individuals with APL may have excess fat around the abdomen, legs, or buttocks. APL is often associated with autoimmune conditions.
• Highly Active Antiretroviral Therapy (HAART) Induced Lipodystrophy (LD-HIV): This form of lipodystrophy occurs in individuals with human immunodeficiency virus (HIV) after receiving antiretroviral therapy containing HIV-1 protease inhibitors.
• Localized Lipodystrophy: Lipodystrophy only causes fat loss in small body areas. It can occur in common injection sites (such as insulin injection sites) and appears as dimples or indentations, with the skin above it usually unaffected.

Causes

Genetic lipodystrophy is triggered by genetic mutations, which alter the DNA sequence. DNA carries the instructions necessary for cells to function correctly. If there are errors or damage in the DNA sequence, it can lead to various genetic conditions, including lipodystrophy.

In contrast, acquired lipodystrophy stems from medication usage, autoimmune reactions, or unknown causes (idiopathic). Unlike genetic lipodystrophy, acquired lipodystrophy does not directly result from genetic factors. However, some researchers suggest that certain individuals may have a genetic predisposition to develop specific forms of acquired lipodystrophy.

Risk factor

While most forms of lipodystrophy typically manifest in childhood, acquired lipodystrophy can also develop in adults. Acquired lipodystrophy is more prevalent among women than men, except for lipodystrophy induced by ARV therapy.

Symptoms

Due to the diverse types of lipodystrophy, symptoms can vary widely. The primary symptom is typically a noticeable and consistent reduction in fat in specific areas of the body, accompanied by normal or relatively excess fat in other areas.

Certain types of lipodystrophy, particularly partial lipodystrophy, may be challenging to identify. Therefore, seeking medical attention is crucial to aid in diagnosis.

Diagnosis

A physician typically establishes the diagnosis of lipodystrophy through a combination of medical interviews, physical examinations, and diagnostic tests.

Medical interview

The doctor conducts a thorough history-taking, inquiring about the patient's primary complaints, associated symptoms, onset of symptoms, past medical history, previous treatments, family medical history, and lifestyle habits.

Physical examination

Following history-taking, the doctor performs a comprehensive physical examination. This includes assessing vital signs such as blood pressure, body temperature, respiratory rate, and pulse, followed by a head-to-toe examination.

Diagnostic tests

Subsequently, diagnostic tests are employed to confirm the diagnosis. These may include MRI scans, comprehensive metabolic panel tests to evaluate the body's chemical balance, including glucose levels and liver enzymes, genetic testing, leptin testing, cholesterol level assessment, and, if deemed necessary, a kidney biopsy.

Management

The treatment and management of lipodystrophy are tailored to the specific type and any concurrent health conditions the patient may have, such as diabetes or abnormal cholesterol levels.

General management strategies for lipodystrophy typically include:

• Leptin replacement therapy: Doctors may prescribe a synthetic form of leptin, the fat hormone that lipodystrophy patients often lack. Leptin replacement therapy helps regulate the body's metabolic processes and can contribute to reducing elevated cholesterol and triglyceride levels.
• Diabetes and insulin resistance treatment: If lipodystrophy leads to insulin resistance and/or diabetes, healthcare providers may prescribe oral medications to manage these conditions. Common medications include pioglitazone, metformin, sulfonylureas, or thiazolidinediones.
• Regulation of triglyceride and cholesterol levels: Some of the oral medications used to treat diabetes can also help regulate cholesterol levels in lipodystrophy patients.
• Surgery and cosmetic procedures: Individuals with lipodystrophy affecting cosmetically sensitive areas, such as the face, chest, or genital area, may opt for cosmetic surgery to enhance their appearance and confidence. Plastic surgeons may utilize techniques such as tissue transplantation to achieve desired results.

Complications

Lipodystrophy induces metabolic complications, including diabetes, severe hypertriglyceridemia, and the deposition of fat in ectopic organs like the liver, potentially resulting in organ-related complications.

Prevention

Lipodystrophy cannot be prevented in most cases. Genetic forms of lipodystrophy arise from inherited genetic mutations, making prevention impractical. However, individuals concerned about the risk of passing on a genetic condition to their offspring should discuss genetic testing with their healthcare provider before planning to conceive.

Infections or autoimmune conditions often trigger acquired forms of lipodystrophy. While some diseases, such as chickenpox and pertussis (whooping cough), can be prevented through vaccination, other infections associated with acquired lipodystrophy and autoimmune conditions are not preventable.

When to see a doctor?

If you observe consistent fat loss in specific areas of your body or your child's body or notice an increase in fat in certain areas, it's essential to consult your healthcare provider.

If you or your child has been diagnosed with lipodystrophy, it's crucial to remain vigilant and schedule regular appointments with a healthcare team to ensure appropriate care.

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