Diagnosis

The diagnosis for lipodystrophy (regardless of type) is a clinical one that includes evaluation of percentage of adipose tissue, blood work (examples: A1c, blood glucose, insulin resistance, triglycerides), organ scans (DEXA & MRI), and occasionally a genetic confirmation. Genetic confirmations are not required however, as the test can rule in but not rule out a diagnosis. Not all mutations have been identified and there is much left to learn about the similarities and differences among the mutations. The blood test to measure leptin levels vary so specialists my use leptin levels to assess treatment options but do not necessarily use them in diagnosis. Doctors may suspect lipodystrophy in lean people with almost total lack of fat tissue, those with unusual areas of fat tissue loss, or those with a family history of lipodystrophy and one or more of the following:​

  • Diabetes (when severe insulin resistance is present)
  • High levels of fat in the blood (high triglycerides/cholesterol)
  • Fatty liver (hepatic steatosis) and/or inflammation of the liver (steatohepatitis)
  • Dark, velvety patches of skin in many patients (acanthosis nigricans)
  • Polycystic ovary syndrome (PCOS)

​If your doctor thinks you may have lipodystrophy, he or she may ask you to get some lab tests such as a blood or urine test. He or she may also do a physical exam to see how much fat tissue you have lost. You may be asked to take a genetic test to determine if you have one of the known genetic forms of lipodystrophy.

Path to Diagnosis:

The path to diagnosis is regularly difficult no matter what type of lipodystrophy one has. Generalized lipodystrophy is typically diagnosed between infancy and adolescence. Parents may struggle to convince pediatricians that something is wrong and multiple specialists may be called upon prior to correct diagnosis. Individuals living with partial lipodystrophy do not typically display any symptoms until puberty and the progression from that point varies as does the health complications associated with the disease. Partial lipodystrophy it is commonly misdiagnosed as Cushing’s Syndrome or mistaken as problems only associated with Polycystic Ovarian Syndrome (PCOS) or Metabolic Syndrome while the rest of the health problems are ignored. Among all types, patient and caregiver reports indicate significant challenges in being taken seriously.