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Research
Dercum’s Disease: Estimating the prevalence of a rare painful loose connective tissue disease
Karen L. Herbst
Karen L. Herbst, MD, PC
Corresponding Author
ORCiD: https://orcid.org/0000-0002-9079-9754
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
In the United States (US), the Orphan Drug Act of 1983 defines a rare disease as affecting less than 200,000 individuals. In Europe, a rare disease or disorder is defined as affecting 5 individuals in 10,000 which the European commission reports to be approximately 246,000 individuals. Dercum’s disease, also known as Adiposis Dolorosa, is a rare loose connective (fat) tissue disease that is characterized by painful lipomas (fatty masses). Orphanet, the National Organization for Rare Disease (NORD) and the United States National Institutes of Health (NIH) have classified Dercum’s disease as a rare disorder. The prevalence of Dercum’s disease is not well studied or understood. The objective of this paper is to estimate the prevalence of Dercum’s disease, whether it is in fact a rare disease, and increase awareness for this painful disease.
Results
An in-depth literature review was conducted in PubMed, the UK Biobank, the U.S. Agency for Health Research and Quality Healthcare Cost and Utilization, by incidence of disease in medical practice, in social media forums and by internet search in order to understand, estimate and determine the prevalence of Dercum’s disease. The prevalence of Dercum’s disease was found to range from 150 to 150,000 in the US population.
Conclusion
The data collected in this paper meet the requirements of the Orphan Drug Act which requires 200,000 individuals or less to be affected by a disorder for it to be classified as rare. These conclusions may apply to Europe as supporting data was utilized from both Sweden and the UK. Further research must be conducted to better understand subclassifications of this rare disorder.
Keywords
Dercum’s Disease, Adiposis Dolorosa, Rare Diseases, Rare Fat Disorder, Painful Fat, lipomas, angiolipomas, fatty tissue, adipofascia, painful growth, Angiolipomatosis, Morbus Dercum
Aliston Bridgens
commented on 11 June, 2020
Hope a sorce for a cure will be found as it is most definitely uncomfortable, unbearable and grossly misunderstood.
View 2 replies
Connie Coltrane
commented on 11 June, 2020
I pray every day that a cure can be found. It is so very hard living with this disease. I am happy that work is being done for the rare disease classification. The pain is very disabling. Thanks to everyone trying to help.
Jodi Penn
commented on 11 June, 2020
Not only do I have this disease, but it appears my daughter does as well, although no lipomas have yet been discovered for her (mine are all internal). Treatment is grossly inadequate for Dercums and it is tiresome to have to describe it to every physician that I see- even pain management drs. Research needs to be conducted regarding endocrine system impact, as one system after another has been affected in my body. I have had much better results with natural forms of treatment, rather than pharmaceuticals, more due to fear of not being continuously prescribed necessary medications than being an "all natural" advocate. There is no urgency from the medical providers to alleviate pain.
View 1 reply
Karen L. Herbst
ORCiDreplied on 12 June, 2020
Bringing awareness to Dercum's disease with this article can at least help a little. Learning more about the disease may generate knowledge of pathways that could be improved using plant-based regimens as well as medications.
Cynthua Prentice
commented on 12 June, 2020
I am so disappointed to be nearly twenty years down the line from the first study with still as many problems to be believed and understood. I have actually managed to lose weight but all it has done is display the lipomas even more yet one surgeon insists that if I lose more weight they will be ‘digested’ and used as energy by my body! I fear that the numbers of Doctors actually aware and actively diagnosing this strange disease are much, much fewer than assumed in this article. They certainly are nearly inexistant in the U.K. and entirely inexistant in France. In the forty years I lived in France I have never, not once, been directed to a Dermatologist who knew about DD. The fight is still ongoing, but the age does not allow a very fair fight! Hope you are well.
View 1 reply
Karen L. Herbst
ORCiDreplied on 12 June, 2020
I agree Cynthia, as we age our bodies do not have the same fight as when we are younger. Once the lipomas become more visible, perhaps a treatment can then be administered easier and with less side effects. We just need that treatment!
Elizabeth Casswell
commented on 14 June, 2020
Thank you so much for bringing attention to my rare disease. I’m 95% bedbound now from soul crushing pain, and knowing someone out there is trying, even to just bringing attention to this terrible rare disease, made me feel less alone.
View 1 reply
Karen L. Herbst
ORCiDreplied on 15 June, 2020
You are not alone Elizabeth!
Brandi Rowland
commented on 15 June, 2020
It is also very discouraging to be told it is "just a skin disease" so it is no big deal. Or "at worst it is lipomas that can hurt a bit but nothing that could affect your mobility or cause real problems". Both of which I have recently been told by doctors the VA sent me to. They have now acknowledged my Dercums that was misdiagnosed as Von Recklinghausens but seem to have no concept of what all this blasted disease can involve. Thank heaven for Dr Herbst and others that work tirelessly for treatment and possibly some day a cure.
Carina Rascher
commented on 22 February, 2021
I'm now over 75, have had DD for over 50 years, am now going through the speeded-up stage of progression, fought for so long, also for others, (founded a support group already in the 90s, now Dercum auf Deutsch on FB). Too bad that I will not be able to benefit from any kind of research...as yet, not even a functioning pain medication has been found and cannabis is not allowed. I sincerely hope that a cure or at least some relief will be found for future generations. Thank you for your efforts
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This is a preprint. It has not completed peer review.
Research
Dercum’s Disease: Estimating the prevalence of a rare painful loose connective tissue disease
Karen L. Herbst
Karen L. Herbst, MD, PC
Corresponding Author
ORCiD: https://orcid.org/0000-0002-9079-9754
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 04 Jun, 2020
Community comments: 13
Metrics
Comments: 13
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
In the United States (US), the Orphan Drug Act of 1983 defines a rare disease as affecting less than 200,000 individuals. In Europe, a rare disease or disorder is defined as affecting 5 individuals in 10,000 which the European commission reports to be approximately 246,000 individuals. Dercum’s disease, also known as Adiposis Dolorosa, is a rare loose connective (fat) tissue disease that is characterized by painful lipomas (fatty masses). Orphanet, the National Organization for Rare Disease (NORD) and the United States National Institutes of Health (NIH) have classified Dercum’s disease as a rare disorder. The prevalence of Dercum’s disease is not well studied or understood. The objective of this paper is to estimate the prevalence of Dercum’s disease, whether it is in fact a rare disease, and increase awareness for this painful disease.
Results
An in-depth literature review was conducted in PubMed, the UK Biobank, the U.S. Agency for Health Research and Quality Healthcare Cost and Utilization, by incidence of disease in medical practice, in social media forums and by internet search in order to understand, estimate and determine the prevalence of Dercum’s disease. The prevalence of Dercum’s disease was found to range from 150 to 150,000 in the US population.
Conclusion
The data collected in this paper meet the requirements of the Orphan Drug Act which requires 200,000 individuals or less to be affected by a disorder for it to be classified as rare. These conclusions may apply to Europe as supporting data was utilized from both Sweden and the UK. Further research must be conducted to better understand subclassifications of this rare disorder.
Aliston Bridgens
commented on 11 June, 2020
Hope a sorce for a cure will be found as it is most definitely uncomfortable, unbearable and grossly misunderstood.
View 2 replies
Karen L. Herbst
ORCiDreplied on 11 June, 2020
Confirming Dercum's disease as a rare disease as this paper is striving to do will help encourage the search for orphan drugs/treatments and bring awareness to this painful disabling disease. Thanks for commenting.
View 1 reply
Paula
replied on 14 June, 2020
I am self diagnosed by watching your videos! I feel like I know you very well! I have some super cool things that I am able to link to Dercums, if your ever interested I sent you a PM on FB. I have been learning about this disease my whole life! Just didn’t know it
Amee
replied on 14 June, 2020
Yes it is!!!
Connie Coltrane
commented on 11 June, 2020
I pray every day that a cure can be found. It is so very hard living with this disease. I am happy that work is being done for the rare disease classification. The pain is very disabling. Thanks to everyone trying to help.
Jodi Penn
commented on 11 June, 2020
Not only do I have this disease, but it appears my daughter does as well, although no lipomas have yet been discovered for her (mine are all internal). Treatment is grossly inadequate for Dercums and it is tiresome to have to describe it to every physician that I see- even pain management drs. Research needs to be conducted regarding endocrine system impact, as one system after another has been affected in my body. I have had much better results with natural forms of treatment, rather than pharmaceuticals, more due to fear of not being continuously prescribed necessary medications than being an "all natural" advocate. There is no urgency from the medical providers to alleviate pain.
View 1 reply
Karen L. Herbst
ORCiDreplied on 12 June, 2020
Bringing awareness to Dercum's disease with this article can at least help a little. Learning more about the disease may generate knowledge of pathways that could be improved using plant-based regimens as well as medications.
Cynthua Prentice
commented on 12 June, 2020
I am so disappointed to be nearly twenty years down the line from the first study with still as many problems to be believed and understood. I have actually managed to lose weight but all it has done is display the lipomas even more yet one surgeon insists that if I lose more weight they will be ‘digested’ and used as energy by my body! I fear that the numbers of Doctors actually aware and actively diagnosing this strange disease are much, much fewer than assumed in this article. They certainly are nearly inexistant in the U.K. and entirely inexistant in France. In the forty years I lived in France I have never, not once, been directed to a Dermatologist who knew about DD. The fight is still ongoing, but the age does not allow a very fair fight! Hope you are well.
View 1 reply
Karen L. Herbst
ORCiDreplied on 12 June, 2020
I agree Cynthia, as we age our bodies do not have the same fight as when we are younger. Once the lipomas become more visible, perhaps a treatment can then be administered easier and with less side effects. We just need that treatment!
Elizabeth Casswell
commented on 14 June, 2020
Thank you so much for bringing attention to my rare disease. I’m 95% bedbound now from soul crushing pain, and knowing someone out there is trying, even to just bringing attention to this terrible rare disease, made me feel less alone.
View 1 reply
Karen L. Herbst
ORCiDreplied on 15 June, 2020
You are not alone Elizabeth!
Brandi Rowland
commented on 15 June, 2020
It is also very discouraging to be told it is "just a skin disease" so it is no big deal. Or "at worst it is lipomas that can hurt a bit but nothing that could affect your mobility or cause real problems". Both of which I have recently been told by doctors the VA sent me to. They have now acknowledged my Dercums that was misdiagnosed as Von Recklinghausens but seem to have no concept of what all this blasted disease can involve. Thank heaven for Dr Herbst and others that work tirelessly for treatment and possibly some day a cure.
Carina Rascher
commented on 22 February, 2021
I'm now over 75, have had DD for over 50 years, am now going through the speeded-up stage of progression, fought for so long, also for others, (founded a support group already in the 90s, now Dercum auf Deutsch on FB). Too bad that I will not be able to benefit from any kind of research...as yet, not even a functioning pain medication has been found and cannabis is not allowed. I sincerely hope that a cure or at least some relief will be found for future generations. Thank you for your efforts
Karen L. Herbst
ORCiDreplied on 11 June, 2020
Confirming Dercum's disease as a rare disease as this paper is striving to do will help encourage the search for orphan drugs/treatments and bring awareness to this painful disabling disease. Thanks for commenting.
View 1 reply
Paula
replied on 14 June, 2020
I am self diagnosed by watching your videos! I feel like I know you very well! I have some super cool things that I am able to link to Dercums, if your ever interested I sent you a PM on FB. I have been learning about this disease my whole life! Just didn’t know it
Amee
replied on 14 June, 2020
Yes it is!!!