The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal hair quantity||50%|
|Telangiectasia of the skin||7.5%|
|Autosomal dominant inheritance||-|
|Middle age onset||-|
|Painful subcutaneous lipomas||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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
How many people with this disease are estimated to live in the US? Are the lipomas constantly painful or does the pain come and go? What advice would you give to a patient regarding home treatment of symptoms? See answer
Has there been enough genetic testing for this problem to identify a genetic marker? Can the children of an affected person have testing done to rule out or identify the presence of the gene? Also, I have not read that severe hyperlipidemia is a symptom. I believe that it is. Can you confirm this? See answer
Is there or will there be any research or attempt at cures done on the rare disease of Dercums? See answer