The signs and symptoms of hyperlipoproteinemia type 1 usually begin during childhood. Approximately 25 percent of affected individuals develop symptoms before age 1. The characteristic features of hyperlipoproteinemia type 1 include:[1][2][3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 100% of people have these symptoms | ||
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
| Increased circulating chylomicron concentration | 0012238 | |
| 80%-99% of people have these symptoms | ||
| Acute pancreatitis |
Acute pancreatic inflammation
|
0001735 |
| Episodic abdominal pain | 0002574 | |
| Hepatosplenomegaly |
Enlarged liver and spleen
|
0001433 |
| Lipemia retinalis | 0000660 | |
| Recurrent pancreatitis |
Recurring pancreas inflammation
|
0100027 |
| 30%-79% of people have these symptoms | ||
| Eruptive xanthomas | 0001013 | |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| 5%-29% of people have these symptoms | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Nausea and vomiting | 0002017 | |
| 1%-4% of people have these symptoms | ||
| Abnormal emotion/affect behavior | 0100851 | |
| Dementia |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 |
| Depressivity |
Depression
|
0000716 |
| 0000819 | ||
|
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
| Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
|
0002354 |
| Perianal abscess | 0009789 | |
| Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
| Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
| Lactescent serum | 0031028 | |
| Nausea | 0002018 | |
| Pancreatitis |
Pancreatic inflammation
|
0001733 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Vomiting |
Throwing up
|
0002013 |
Hyperlipoproteinemia type 1 is caused by
Mutations in the LPL gene lead to a reduction or elimination of lipoprotein lipase activity, which prevents the enzyme from effectively breaking down triglycerides. As a result, triglycerides attached to lipoproteins build up in the blood and
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I was born with hyperlipoproteinemia type 1, and I would like more information on my disease. I have been pretty much on my own due to lack of knowledge by my doctors. See answer
