Diagnosis

Whether you already have a diagnosis or are still searching for answers — this page is for you. Many people wait years before lipodystrophy is even considered. Your experience is valid, and you are not alone.

A message from our community

Before you read on, hear from people who have been exactly where you are — searching for answers, feeling dismissed, and finally finding a name for what they were experiencing. You are in the right place.

Our patient community is recording this now. Check back soon.

If it has taken years to get here – that is not your fault.

You are not alone

Most people with lipodystrophy wait 5 or more years before receiving a correct diagnosis. A long, difficult journey to get here is one of the most common experiences in our community.

Your instincts matter

Many patients knew something was wrong long before a doctor listened. If standard treatments aren’t working, or your symptoms feel out of proportion — trust that instinct and keep asking.

This page is for everyone

Whether you have a confirmed diagnosis, a suspected one, or are still searching — everything here is written for you, not just for doctors or specialists.

Important: lipodystrophy is a clinical diagnosis — you do not need a positive genetic test to be diagnosed or treated.

There is no single test that confirms lipodystrophy. A diagnosis is made by your clinician based on the pattern of fat in your body, your metabolic blood results, your symptoms, and your medical history. Not all types of lipodystrophy are caused by a genetic mutation and not all genetic mutations have been discovered, so a genetic test may confirm the clinical diagnosis, negative genetic test does not mean you don’t have lipodystrophy. Many people with confirmed lipodystrophy never find a genetic cause.

What is lipodystrophy?

Lipodystrophy is a rare group of disorders in which the body cannot properly make, store, or maintain fat tissue. Because fat does not function properly, it can build up in places such as the liver and other organs, leading to serious health problems including insulin resistance, high blood fats, fatty liver disease, and heart-related complications.

Watch a special Lunch and Learn on the importance of basic science from Dr. Justin Rochford.

What Lipodystrophy Can Look LIke

What you notice will depend on the type of lipodystrophy that you have. Most types of lipodystrophy have loss of fat in your arms and legs. You may notice loss of fat in the face, arms, or legs – usually giving a very lean or muscular look. For partial forms of lipodystrophy, fat may build up in the abdomen or neck and face.

Blood test results are often abnormal – diabetes, high blood fats, or liver changes – that seems out of proportion to how a person looks or how much they weigh.

Why getting the right diagnosis matters

Because fat tissue is missing and/or not functioning properly, the metabolic problems in lipodystrophy are fundamentally different from standard obesity or diabetes. Standard treatments often don’t work – and can fail completely – if the underlying lipodystrophy is not recognized and specifically treated.

The Patient Journey with Partial Lipodystrophy

The Patient Journey with General Lipodystrophy

It is very important to note: No two people with lipodystrophy look or feel exactly the same. You may have all, some, or few of the symptoms on this page. Not all forms of lipodystrophy look alike. Your experience is valid even if it doesn’t match every description here.

How lipodystrophy is evaluated and confirmed

Diagnosis is a process, not a single moment. It usually unfolds in two phases – first recognizing the clinical picture, then understanding the type and cause. Both phases may happen around the same time or the process can take several years.

Phase 1

Recognizing lipodystrophy

Doctors first look at the overall clinical picture. Several parts may happen around the same time:

01

Medical history and physical exam

Your clinician looks for unusual fat distribution and related signs — fat loss in the arms or legs, extra fat around the neck or upper back, prominent muscles or veins, darkened skin patches (acanthosis nigricans), or high-fat skin deposits called xanthomas.

02

Lab testing

Blood and urine tests help look for common metabolic problems linked to lipodystrophy, including high triglycerides, high blood sugar, insulin resistance, liver problems, low leptin, and protein in the urine.

Tests include:

- High triglycerides (blood fats)
- High blood sugar
- Insulin resistance
- Liver problems
- Low leptin
- Protein in the urine

03

Body composition testing

Scans such as DXA or MRI can measure where fat is stored in the body. A pattern of low fat in the limbs with preserved or increased fat in the truncal area or abdomen can support the diagnosis.

Scans include:

- DXA scan (whole-body fat mapping)
- Whole-body MRI
- Liver ultrasound or MRI

04

Putting the findings together

Lipodystrophy is a clinical diagnosis – meaning it is based on the overall pattern of symptoms, exam findings, lab results, and body fat distribution. Doctors make the clinical diagnosis first, before genetic testing.

Phase 2

Understanding the type and cause

01

Genetic Testing

Genetic testing may be used to help identify the subtype of lipodystrophy and whether it may be inherited. A positive result can support the diagnosis – but it is not required to confirm lipodystrophy. A negative genetic test does not rule lipodystrophy out. Some causes may involve genes that are not yet known or not included on current tests.

Options: gene panel test, broader gene test, family testing

02

Cause and subtype assessment

Your doctor will also consider whether the condition appears inherited or acquired, and what subtype best matches your pattern of fat loss and metabolic changes. This helps guide treatment and family planning decisions.

Next Steps

Referrals to Sub-specialists

Referral to an endocrinologist with expertise in metabolic disease may be helpful. You can ask your doctor for this referral at any stage – you do not need to wait for a confirmed diagnosis.

Create a Strong Healthcare Support Team

Lipodystrophy often needs care from different specialists, such as endocrinologists, geneticists, and cardiologists. Partner with a healthcare team to manage the condition in a well-rounded way.

Find an Expert Center

Patients and families may also benefit from support and education through Lipodystrophy United. Find an expert center near you.

Genetic Testing – What do you need to know?

Genetic testing can help confirm the type of lipodystrophy you have — but it is not required for diagnosis or treatment. Most doctors order it after a clinical diagnosis is already made. Here is a plain-language explanation of the three main options.

Gene panel test

A blood or saliva test that checks a targeted list of genes known to cause lipodystrophy. Usually the first test ordered — the most accessible and most common starting point.

Broader gene test

A more detailed test that looks at a much wider range of your DNA. Used when the first panel comes back negative but your doctor still strongly suspects lipodystrophy — can find rarer or newly discovered gene changes.

Family testing

Once a gene change is found in one family member, other relatives can be tested for that same change — allowing early detection before serious health problems develop.

Important: A negative genetic test does not mean you don’t have lipodystrophy

Only about half of people with confirmed lipodystrophy find an identifiable gene mutation with current tests. New mutations are still being discovered. A clinical diagnosis — based on how your body looks, your metabolic lab results, and your imaging — is completely valid and enough to start treatment.

Many people in our community have no known gene mutation — and that is okay

Not having a gene name for your lipodystrophy does not make you less part of this community, or less deserving of care. We are still learning. Many members of our community are in exactly the same position, and research to identify new causes is ongoing.

Find an expert center near you.

Gene Inheritance & Family Implications

CGL type 1

CGL type 2

CGL type 3

CGL type 4

FPLD type 1
(Kobberling)

FPLD type 2 (Dunnigan)

FPLD type 3

FPLD type 4

Not directly inherited; the immune system attacks fat cells

What this means for your family:

C3 complement protein is often low – important test to ask for

The 4 Main Types

Lipodystrophy is grouped into four main types based on how much fat is affected, whether it is present from birth or develops over time, and whether it has a known genetic cause.

01

Congenital Generalized Lipodystrophy (CGL)

AKA: Berardinelli-Seip Congenital Lipodystrophy (BSCL)

Almost all body fat is absent from birth or before two. Without fat tissue to store energy, the body deposits excess fat in organs like the liver and muscles instead – which can cause serious health problems from early childhood.

Onset: Present at birth or before the age of two; usually identified in infancy

Cause: Genetic – both parents carry a silent copy of the gene

Signs: Very muscular appearance and may have prominent veins, extreme hunger, fatty liver causing an enlarged belly, high glucose, high triglycerides

02

Familial Partial Lipodystrophy (FFLD)

Also called: Dunnigan Syndrome & related subtypes

Fat is lost from the arms, legs, and trunk – but builds up in the face,
neck, and abdomen. This can look like general weight gain, which is why it
is so often missed. Metabolic problems are usually severe.

Onset: Usually around puberty; more noticeable in women

Cause: Genetic – one parent with the gene change can pass it on

Signs: Slim arms and legs, abdominal weight, irregular periods, high
blood fats

03

Acquired Generalized Lipodystrophy

AKA: Lawrence Syndrome

Similar to CGL in its extent, but the fat loss develops over time – not at birth. Usually triggered by the immune system attacking fat cells, sometimes following illness or inflammation.

Onset: Childhood or adolescence; sometimes follows an illness

Cause: Autoimmune – the immune system attacks fat cells

Signs: Progressive fat loss, severe metabolic disease, dark skin patches

04

Acquired Partial Lipodystrophy (APL)

AKA: Barraquer-Simons Syndrome

Fat disappears from the face, arms, and upper body – and can progressively increases in the hips and legs. Strongly linked to a specific kidney condition and low immune protein (C3 complement) levels.

Onset: Can happen anytime; more common in women

Cause: Low C3 complement protein; rarely, a gene change

Signs: Fat loss in face and upper body; possible fat increase in lower
body

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Special Note

No two people with lipodystrophy present identically. You may have features of one type, or some features of more than one. What matters most is that your symptoms and metabolic results are taken seriously.

Finding the Right Care After Diagnosis

You may need a specialist, and you have every right to ask for one.

Address healthcare needs

Lipodystrophy is rare. Most general practitioners and even many endocrinologists have never seen a case. Asking for a specialist referral is not a criticism of your current doctor. It is a recognized and important part of managing a rare disease well.

Who to Ask For

Ask your General Practitioner or current specialist for a referral to a metabolic endocrinologist, a lipidologist (a doctor who specializes in blood fats), or a center with specific experience in rare metabolic conditions. Some university hospitals and large academic medical centers have dedicated rare disease or lipodystrophy clinics.

What to say to your doctor

You can say: “I have been reading about a rare condition called lipodystrophy. Given my metabolic results/family history and the pattern of fat distribution in my body, I would like to be assessed by a specialist who has experience with this. Can you refer me?”

Remote and telemedicine consultations

You do not always need to travel to see a specialist. Many lipodystrophy experts offer telemedicine consultations and are used to working with patients from far away. Lipodystrophy United can help you find someone appropriate for your location.

If you’re still undiagnosed

You do not need a confirmed diagnosis before asking for specialist input. If you strongly suspect lipodystrophy, a referral is appropriate now. You should not have to wait. Advocating for yourself is a skill – and our community can help you do it.

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Special Note

Lipodystrophy United can help connect you with an expert We maintain a global directory of clinicians and specialist centers with lipodystrophy experience. If you are unsure where to start, contact us.

What Lipodystrophy Gets Mistaken For

If you have been told you have one of these conditions but something doesn’t feel right – or your treatment isn’t working – it is worth asking about lipodystrophy. Many people in our community received one of these diagnoses first. We have included not just what gets missed, but why the confusion happens – because understanding that can help you advocate for yourself.

Type 2 Diabetes

Obesity

Polyendocrine Metabolic Ovarian Syndrome (PMOS)

Cushing’s Syndrome

Familial Hypertriglyceridemia

Eating Disorder / Anorexia

Type 2 diabetes (Very Common)

Lipodystrophy causes severe insulin resistance and diabetes – called lipoatrophic diabetes- but far more extreme than typical type 2, and often does not respond to standard diabetes tablets.

What’s missed: Abnormal fat distribution, extremely high blood fats, very low leptin levels

Why the confusion: The diabetes looks like type 2 on paper. But needing very high insulin doses, or getting no response to oral tablets, is a red flag that something else is driving it.

Obesity

In FPLD, fat builds up in the face and abdomen – which can look like general weight gain. The loss of fat from the arms and legs is overlooked, and patients are often told to lose weight.

What’s missed: Lean, slim arms and legs – metabolic results far worse than body weight would explain

Why the confusion: Without examining the whole body carefully, the fat redistribution pattern is easy to miss. Someone can look overweight in the face but have almost no fat in their limbs.

Polyendocrine metabolic ovary syndrome (PMOS)

In women with FPLD, irregular periods, high male hormone levels, and severe insulin resistance look identical to PMOS on the surface – and PMOS is far more commonly known.

What’s missed: Fat distribution pattern, family history, severely elevated blood fats

Why the confusion: Both conditions cause irregular periods and insulin resistance. The key difference is the fat loss in the limbs and the extreme metabolic severity in lipodystrophy – which goes far beyond typical PMOS.

Cushing’s syndrome

Abdominal fat build-up and metabolic complications can look like Cushing’s syndrome – a hormone condition – leading to extensive hormonal testing before lipodystrophy is considered.

What’s missed: Normal cortisol levels; fat loss in the limbs is the opposite of what Cushing’s causes

Why the confusion: Central fat gain with metabolic problems overlaps with Cushing’s on paper. But cortisol levels are normal in lipodystrophy, and the limb fat loss is a key distinguishing feature.

Familial Hypertriglyceridemia

High blood fat (triglyceride) levels are a hallmark of lipodystrophy – but patients are often treated for the high fats alone, without anyone asking why they are so extreme.

What’s missed: Body fat distribution abnormalities, low leptin levels, the underlying metabolic cause

Why the confusion: High triglycerides get treated as the problem, not the symptom. The question of why they are so extremely high, especially in a young or lean person, is often not asked.

Eating disorder / anorexia

People with CGL or AGL, particularly children, may appear very lean and muscular. This is sometimes misread as undereating, when in reality they are often extremely hungry and eating large amounts.

What’s missed: Very large appetite, muscular appearance, lab results that don’t match malnutrition

Why the confusion: The lean appearance triggers assumptions about eating. But low leptin causes intense, uncontrollable hunger. Lab results showing metabolic disease rather than malnutrition is the key distinction.

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If you recognize yourself here - you have every right to ask questions

If you have been told you have one of these conditions but your treatment isn’t working, your results seem extreme for your situation, or you have a family history of similar issues – bring up lipodystrophy by name. Ask: “Could this be lipodystrophy? I would like to be assessed.” You can share this page with your doctor.

You Don’t Have to Navigate This Alone

Lipodystrophy United connects patients, families, and clinicians around the world. Whether you’re newly diagnosed, still searching for answers, or supporting someone you love – we’re here.

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