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||
|80%-99% of people have these symptoms|
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides[ more ]
Round facial appearance
Round facial shape[ more ]
|Skeletal muscle hypertrophy||
Increased skeletal muscle cells
|30%-79% of people have these symptoms|
|Abnormality of the nail||0001597|
Acute pancreatic inflammation
|Advanced eruption of teeth||
Early eruption of teeth
|Loss of subcutaneous adipose
Loss of fat tissue below the skin in limbs
|5%-29% of people have these symptoms|
|Abnormality of complement system||0005339|
|Abnormality of skeletal muscle fiber size||0012084|
Darkened and thickened skin
Bacterial infection of skin
Skin infection[ more ]
|Congestive heart failure||
Heart failure[ more ]
|Coronary artery atherosclerosis||
Plaque build-up in arteries supplying blood to heart
|Cranial nerve paralysis||0006824|
Fatty infiltration of liver
Fatty liver[ more ]
Enlarged and thickened heart muscle
Muscle pain[ more ]
Muscle tissue disease
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
|Adipose tissue loss||
Loss of fat tissue
|Decreased HDL cholesterol concentration||
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol[ more ]
|Enlarged peripheral nerve||0012645|
High blood sugar
|Increased adipose tissue around the neck||
Increased fat around the neck
|Increased facial adipose tissue||
Increased amount of facial fat
|Increased intraabdominal fat||0008993|
|Increased intramuscular fat||0008985|
|Insulin-resistant diabetes mellitus||
Insulin resistant diabetes
Insulin-resistant diabetes[ more ]
|Loss of truncal subcutaneous adipose tissue||
Loss of fat tissue in trunk
|Prominent superficial veins||
|Reduced subcutaneous adipose tissue||
Reduced fat tissue below the skin
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other forms of FLPD as well as Cushing syndrome (see these terms), type 2 diabetes, metabolic syndrome and acquired lipodystrophy.
Visit the Orphanet disease page for more information.
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.
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
Is metreleptin a treatment option for individuals with familial partial lipodystrophy type 2? See answer