How do you detect the disease?

GL or PL are always linked to a lack or loss of subcutaneous fat or, in the case of PL, an unusual fat distribution. There are also further visible signs of the disease, symptoms and abnormal blood values which can point towards lipodystrophy. But since GL and PL are rare diseases, most doctors have little or no experience with it. For this reason it is only through consultation with different specialists that can lead to a diagnosis. Here, the examination of the blood, the internal organs and also genetic testing plays an important part.
Click on the icons to see what doctors may be involved in diagnosing GL and PL.

 

Patient

  • Endocrinologists / Diabetologists

    Endocrinologists, as specialists, deal with the body’s hormone system. They are specialists in metabolic disorders such as diabetes. There are also endocrinologists who specialise in the treatment of metabolic disorders in children.

  • Cardiologists

    Cardiologists deal with the cardiovascular system and its diseases. Amongst other things, they are specialists in heart diseases.

  • Lipidologists

    Lipidologists are specialists in fat metabolism disorders. They have in-depth knowledge of hyper-triglyceridaemia in particular.

  • Nephrologists

    Nephrologists deal with kidney disorders.

  • Paediatricians

    Paediatricians are responsible for children. They are basically general practitioners for children and adolescents. They specialise in diseases that occur in childhood and adolescence.

  • Hepatologists

    Hepatologists deal with liver disorders.

  • Geneticists

    Geneticists deal with the diagnosis of genetically determined, i.e. hereditary diseases. Many forms of  lipodystrophy can be confirmed genetically.

Do you suspect that you or your child may have GL or PL?

Then you should speak to your family doctor or paediatrician. We would recommend you making some notes about what your suspicion is based on.
You should ask yourself the following questions:

  • Is there a subcutaneous fat loss that affects the whole or part of the body?
  • Is the feeling of hunger noticeable or do you or your child never feel full despite a thin appearance?
  • Is the blood sugar level too high or has diabetes already been diagnosed and, if so, is it difficult to treat?
  • Is there too much fat in the blood, i.e. is there hypertriglyceridaemia?
  • Are there any other symptoms that seem unusual to you?

The disease is very rare but there are specialists. Unfortunately, the path people with lipodystrophy have to take before a specialist can make a final diagnosis is often a long one. So don’t be afraid to request clarification of uncertain or unusual signs of illness, for yourself or your child.

Even if leptin deficiency can be responsible for many of the signs of illness and health consequences with GL and PL, leptin levels alone cannot be used to determine the disease. Leptin levels depend on many factors, such as sex, age, body mass index and metabolic state.

Young very thin woman with Generalised Lipodystrophy (GL)

»My paediatrician was concerned because I had become so thin. We then went to so many doctors - including geneticists, gastroenterologists, hepatologists and endocrinologists. They determined that my blood sugar, triglycerides and liver enzymes were very high. The diagnosis was Type 1 diabetes. But I was insulin-resistant. Finally we found out that it was not just diabetes but generalised lipodystrophy. At that moment my mother said that everything was now fitting together to form a picture like a puzzle.«