In GL, there are signs and symptoms that you may notice, and others that only your doctor may be able to detect.
In this section, we will cover the most common signs and symptoms of GL, but it is important to know that you (or your child) may not experience all of what is covered here. In fact, no 2 people with GL will experience the disease the same exact way. Some people with GL will experience only a few signs and symptoms, while others will experience many. Some people may experience these earlier in childhood, while others may not see them until later in life. The disease can be different in each person affected by it, which can make it difficult to diagnose.
Two of the most noticeable signs and symptoms of GL are looking muscular or unusually lean and being hungry all the time, even after eating a full meal. This hungry feeling is called hyperphagia.
Click on or hover over each icon below to learn about the other physical signs and symptoms that people with GL can have.
The belly can become enlarged due to fat building up in organs, such as the liver due to an inadequate amount of fat tissue on the body. As a result, fat is stored in the wrong places, such as in some organs.
These are called acromegaloid features. The exact cause of these enlarged features in people with GL has not yet been found. Some experts believe that the hands, feet, and jaw are larger in people with GL because high levels of insulin may cause certain parts of the body, including bones, to grow more quickly than they should.
This is called phlebomegaly. The exact cause of enlarged veins in people with GL has not yet been found. Some experts believe that people with GL have visible or enlarged veins because they have little to no fat tissue all over the body.
These patches form in areas like the neck, groin, armpits, and under the breasts. They are called acanthosis nigricans. The dark patches can form due to the body having too much insulin. The body’s inability to respond to insulin is called insulin resistance.
These bumps can sometimes be itchy and form on areas of the body like the hands, feet, arms, legs, and buttocks. They are called eruptive xanthomas. These bumps form due to high triglycerides.
Kids with congenital GL may grow tall more quickly than other kids their age, but they will not gain weight at the same rate that their bones are growing. This is called advanced bone age.
When the body does not have enough leptin, certain metabolic processes are not controlled. This can lead to serious complications. Click on or hover over each icon below to learn about these complications.
High triglycerides are a form of fat in the blood. High triglycerides may be associated with pancreatitis, or inflammation of the pancreas.
When the body does not respond to its own insulin, this is called insulin resistance. Over time, the body’s inability to produce enough insulin to overcome insulin resistance can lead to diabetes.
High blood sugar may indicate diabetes, which may increase your risk of kidney disease, eye disease, heart disease, and nerve damage, especially in your feet and legs. This is also called high blood glucose.
Blood tests can show what is happening inside your (or your child’s) body. Read below to learn more about some common blood tests and what they can reveal about GL.
Triglyceride levels are measured through a fasting triglycerides blood test. A fasting triglycerides blood test is performed after not eating, or fasting, for at least 8 hours, and measures the level of fat in the blood. It is important to fast because fats from foods eaten within 8 hours before the test can affect the test results. The table below explains different triglyceride ranges and what they mean in people of different ages.
|Triglyceride levels (mg/dL)|
|In children younger than 10 years||In children 10-19 years||Adults|
|Less than 75||Less than 90||Less than 150|
|75 to 99||90 to 129||150 to 199|
|Greater than or equal to 100||Greater than or equal to 130||Greater than or equal to 200|
|Greater than 500||Greater than 500||Greater than 1000|
|What they mean|
|Very high triglycerides|
High triglycerides have been associated with inflammation and swelling, of the pancreas.
Blood glucose levels are typically measured using 2 common blood tests: a fasting blood sugar test and an A1C test.
A fasting blood sugar test, also known as fasting plasma glucose (FPG) test, is performed after not eating, or fasting, for at least 8 hours and measures glucose levels in the blood at the time of the test. It is important to fast because sugars from foods eaten within 8 hours before the test can affect the test results. The table below outlines what different fasting blood glucose measures mean.
|Blood glucose level (mg/dL)||What it means|
|70 to 99||Healthy fasting blood glucose level|
|100 to 125||Fasting blood glucose level in people at risk for getting diabetes|
|Greater than or equal to 126||Fasting blood glucose level in people who have diabetes|
An A1C test is a blood test that measures an average blood glucose level for the past 2 to 3 months. This may be a good test for a person with GL because it does not require 8 hours of fasting. The table below explains what different A1C measures mean.
|A1C measure (%)||What it means|
|Less than 5.7||Healthy A1C|
|5.7 to 6.4||A1C in people at risk for getting diabetes|
|Greater than or equal to 6.5||A1C in people who have diabetes|