How can I recognise if it could be GL or PL?

There are external signs of illness that are visible and signs that are only displayed on examination.If you are examining the symptoms of GL and PL you should consider that these will be manifested differently in each patient and not all of these symptoms have to occur. The time the disease becomes noticeable can also vary. This depends on the form of the disease that is present. In addition to the generalised or partial form, we also differentiate between whether the disease is hereditary (familial) or acquired. You can find more information on this in “Forms of the disease”.

External symptoms

There are various external signs that may indicate GL or PL. The essential sign is the lack or unusual distribution of subcutaneous fat in the body.

Typical fat distribution pattern with GL and PL

 

Congenital generalised lipodystrophy
(Berardinelli-Seip Syndrome)

Acquired generalised lipodystrophy
(Lawrence Syndrome)


            Little girl with generalised lipodystrophy and typical lack of subcutaneous fat

Raeya, congenital lipodysthrophy GL

Appearance


            Illustration of disturbed fat distribution which shows the total lack of subcutaneous body fat

Lack
of fat

Variable fat
accumulation


            Illustration of disturbed fat distribution which shows the total lack of subcutaneous body fat

Loss
of fat

Variable fat
accumulation

All types of GL (congenital AND acquired forms) are characterised by massive loss of subcutaneous fat over the whole body.

Typical fat distribution pattern with GL and PL

 

Familial partial lipodystrophy
(Dunnigan or Köbberling Syndrome)

Acquired partial lipodystrophy
(Barraquer-Simons Syndrome)


            Woman with congenital partial lipodystrophy and typical lack of subcutaneous fat combined with fat accumulation around the neck.

Linda, familial
lipodysthrophy PL

Appearance


            Illustration of disturbed fat distribution which shows the partial lack of subcutaneous body fat

Loss
of fat

Variable fat
accumulation


            Illustration of disturbed fat distribution which shows the partial lack of subcutaneous body fat

Loss
of fat

Variable fat
accumulation

PL is characterised by an unusual fat distribution. The familial type: A loss in the arms and legs and an accumulation in the trunk neck and face. The acquired form: A loss in the upper body and accumulation in the lower body.

There are further external signs that could indicate GL or PL. Click on the icons below to find out more.

  • Increased abdominal girth
    1

    1 Increased abdominal girth

    The stomach may look enlarged; the navel may protrude. This is caused by fat deposits in the internal organs such as the liver or the spleen. The organs themselves increase in size due to the deposited fat and make the stomach look fat. An enlarged liver is called hepatomegaly.

  • Enlarged hands and feet
    2

    2 Enlarged hands and feet

    Hands and feet, and also the jaw, can be enlarged. The precise cause of this is not known. It is assumed that the high level of insulin is responsible for the increased growth. These physical characteristics are described as “acromegaloid appearance”.

  • Protruding, visible veins
    3

    3 Muscular appearance with prominent visible veins

    The lack of subcutaneous fat and fat deposition in muscles leads to a muscular appearance and the
    veins appear enlarged and protrude visibly. This is particularly noticeable on the arms and/or legs.

  • Dark, velvet-like patches on the skin, often greyish-brown in colour
    4

    4 Dark, velvet-like patches on the skin

    In the area of the neck, the armpits, under the breast and in the groin area, large, dark patches can appear on the skin, which feel soft. This is called “acanthosis nigricans”. These patches often appear in connection with high insulin levels.

  • Nodules that suddenly occur
    5

    5 Nodules that suddenly occur

    These nodules are approximately 0.2 - 0.3 cm in size. They are large, yellow, hard and clearly defined and may also sometimes itch; they appear suddenly and mostly in a large number, especially on the hands and feet, arms, legs and buttocks. This is called “eruptive xanthoma”. The nodules can appear when the fats in the blood (triglycerides) are too high.

  • Accelerated longitudinal growth
    6

    6 Accelerated longitudinal growth

    Children with congenital GL grow faster than other children. But their weight does not increase in proportion. This is known as “accelerated longitudinal growth”.


            Adolescent male with generalisised lipodystrophy and typical complete lack of subcutaneous fat, muscular appearance.

“Around age 10, Troy lost the fat all over his body and his stomach stuck way out. He was hungry all the time.”

Jason /Troy’s father

 

Troy lives with acquired GL

Always hungry?

The leptin deficiency or low leptin levels can mean that those affected are always hungry.
This can be so pronounced that behaviour revolves purely around eating or seeking food.

Symptoms that cannot be seen directly

The lack of subcutaneous fat can lead to low leptin levels and that can have effects on very many processes in the body. Pronounced metabolic disorders can occur and that can cause significant damage to the body. The extent depends on the type of lipodystrophy and how seriously the person is affected.

Increase in blood sugar

Increase in blood sugar

Those affected by GL or PL frequently suffer from diabetes. This can, in turn, lead to serious secondary diseases, such as in the kidneys, heart and eyes. A typical indicator of GL or PL is when the diabetes is difficult to manage or very high doses of insulin are required, especially in children.

Insulin resistance

Insulin resistance

The storing of excess fat in the muscles or internal organs can lead to the development of insulin resistance. The body then no longer reacts to its own insulin to control blood sugar levels. This can lead to diabetes (diabetes mellitus).

Increase in blood fats

Increase in blood fats

Triglycerides are a type of fat (lipid) found in blood. The body converts any calories it doesn‘t need to use right away into triglycerides and stores them in fat cells. In GL and PL, the reduced subcutaneous fat means that higher triglyceride levels are found in the blood (hypertriglyceridaemia). This can have serious consequences including an increased risk of heart disease and pancreatitis (inflammation of the pancreas).

Blood sugar and blood fats: what is normal?

Blood sugar

In adults normal blood sugar level is below 100 mg/dL (or below 5.6 mmol/L) on an empty stomach, i.e. after 8-10 hours without food. After eating, the blood sugar level increases to a maximum of 140 mg/dL (7.8 mmol/L).
Normal values for blood sugar in children
Blood sugar on an empty stomach    65–100 mg/dL, 3.6–5.6 mmol/L
Blood sugar after eating    80–126 mg/dL, 4.5–7.0 mmol/L
Blood sugar at night     65–100 mg/dL, 3.6–5.6 mmol/L
HbA1c value    < 6.5 %

Blood fats

Triglycerides in the blood are considered to be raised in adults above a value of 200 mg/dL (2.3 mmol/L). In GL and PL patients the triglyceride values are often over 500 mg/dL (5.65 mmol/L).
Normal values for triglycerides in children
Triglyceride values in children aged up to 3 years should be below 100 mg/dL (1.1 mmol/L),
in children aged 4-15 below 110 mg/dL (1.3 mmol/L)
and in young people aged 16 and above below 120 mg/dL (1.4 mmol/L).

Due to the lack of leptin, people with GL or PL may always feel hungry and consume more food than they need.  
This excess energy from food exacerbates the symptoms of GL and PL – a vicious circle that is very hard to break!