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Adiposis Dolorosa

Table of Contents

Adiposis Dolorosa

Adiposalgia; Adipose tissue rheumatism; Anders syndrome; Dercum disease; Dercum's disease; Dercum-Vitaut syndrome; Lipomatosis dolorosa; Morbus dercum

Adiposis dolorosa is a condition characterized by painful folds of fatty tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in post-menopausal, obese women of middle age. They can occur anywhere on the body and range in size. Explore causes, diagnosis, and treatment.

Fat cells growing over capillaries and muscle tissue

Image by TheVisualMD

Summary

Lipoma

Image by Sikander Iqbal

Lipoma

Lipoma on forearm

Image by Sikander Iqbal

What Is Adiposis Dolorosa?

Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or have obesity, and signs and symptoms typically appear between ages 35 and 50.

In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe, particularly if they are pressing on a nearby nerve. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse. In some cases, lipomas can impair normal movement.

Other signs and symptoms that have been reported to occur with adiposis dolorosa include easy bruising, digestive system problems, a rapid heartbeat (tachycardia), general weakness and tiredness (fatigue), sleep problems, depression, irritability, confusion, migraine headaches, recurrent seizures (epilepsy), and a progressive decline in memory and intellectual function (dementia). These problems do not occur in everyone with adiposis dolorosa, and it is unclear whether they are directly related to the condition.

Source: MedlinePlus Genetics

Additional Materials (2)

Adiposis dolorosa of the diffuse truncal form (Dercum). The anterior view shows the peculiar apron of fat and the small size of the hands. The posterior view shows the arrangement of fat in folds over

Adiposis dolorosa of the difuse truncal form (Dercum), The anterior view shows the peculiar apron of fat and the small size of the hands. The posterior view shows the arrangement of fat in folds over the hips.

Image by Internet Archive Book Images/Wikimedia

Lipedema vs Dercum's Disease | Dr. Karen Herbst | Total Lipedema Care

Video by Total Lipedema Care/YouTube

Adiposis dolorosa of the diffuse truncal form (Dercum). The anterior view shows the peculiar apron of fat and the small size of the hands. The posterior view shows the arrangement of fat in folds over

Internet Archive Book Images/Wikimedia

2:45

Lipedema vs Dercum's Disease | Dr. Karen Herbst | Total Lipedema Care

Total Lipedema Care/YouTube

Causes

Male and Female Endocrine System - Hormone Production Glands

Image by TheVisualMD

Male and Female Endocrine System - Hormone Production Glands

Male and Female Endocrine System - Hormone Production Glands

Image by TheVisualMD

What Causes Adiposis Dolorosa?

The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified.

Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. They include the use of medications called corticosteroids, dysfunction of the endocrine system (which produces hormones), or changes in the deposition and breakdown of fat (adipose tissue metabolism). Researchers have also suggested that adiposis dolorosa could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. However, there is no firm evidence that the condition is related to abnormal inflammation or other immune system malfunction.

It is unknown why adiposis dolorosa usually occurs in people who are overweight or have obesity, or why the signs and symptoms do not appear until mid-adulthood.

Source: MedlinePlus Genetics

Inheritance

Pregnancy and Weight Gain - Timing Matters, Birth Weight, High Birth Weight

Image by TheVisualMD

Pregnancy and Weight Gain - Timing Matters, Birth Weight, High Birth Weight

Pregnancy and Weight Gain - Timing Matters

Image by TheVisualMD

How Is Adiposis Dolorosa Inherited?

Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family.

A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. This pattern of inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder.

Source: MedlinePlus Genetics

Additional Materials (1)

Depiction of a child with significant abdominal fat

Depiction of a child with significant abdominal fat

Image by https://www.myupchar.com

Depiction of a child with significant abdominal fat

https://www.myupchar.com

Symptoms

Sensitive content

This media may include sensitive content

Advanced Lipedema

Image by Herecomesdoc/Wikimedia

Sensitive content

This media may include sensitive content

Advanced Lipedema

A very advanced case of lipedema of the right leg (the knee is pointing to the right and is concealed by the overhanging lipedema).

Image by Herecomesdoc/Wikimedia

What Are the Signs and Symptoms of Adiposis Dolorosa?

painful lipomas
fatigue
memory disturbances
difficulty forming and expressing thoughts
rapid, unexplained weight gain
vascular problems (angiolipomas)
petechiae
easy bruising
flushing
heavy or prolonged menstrual bleeding
unexplained blood in the urine (hematuria)
non-pitting edema in subcutaneous fat
gastroesophageal reflux (GERD)
irritable bowel syndrome and other gastrointestinal problems
migraines
feeling of fullness
joint pain and/or stiffness (especially when fat deposits are present)
muscle pain and stiffness
shortness of breath
tachycardia (rapid heart rate)
sleep disturbances (insomnia)
depression and/or anxiety

The pain associated with adiposis dolorosa can be debilitating. Due to its chronic and progressive nature, mobility may become a challenge.

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

A physical exam helps a doctor take the measure of your health

Image by TheVisualMD

A physical exam helps a doctor take the measure of your health

Doctor's Visit _ A physical exam helps a doctor take the measure of your health. Current concerns are addressed and unrecognized problems may be spotted. But the exam also establishes a baseline vital to your future.

Image by TheVisualMD

How Is Adiposis Dolorosa Diagnosed?

A diagnosis of adiposis dolorosa can be made after a thorough physical exam, identifying the characteristic features, and ruling out other conditions. The minimal diagnostic criteria are generalized overweight or obesity (most often) and chronic pain in the adipose tissue (for more than 3 months). Surgical removal and biopsy of painful tissue may confirm that lipomas are present. Genetic testing for adiposis dolorosa currently is not available.

The presence or absence of additional symptoms (or the body location of specific symptoms) may affect the specific diagnosis a person receives. For example:

It has been proposed that those with painful, generalized overweight or obesity of the legs and feet should only be diagnosed with lipedema.
If there are isolated, painful lipomas or accumulations of fat, the diagnosis should be nodular Dercum’s disease.
In cases where the criteria are met for fibromyalgia, the primary diagnosis should be fibromyalgia - and only if lipomas are also present should adiposis dolorosa also be diagnosed.
Those who only have excess fat accumulation in the head, neck region, and upper torso should be diagnosed with Madelung’s disease.

The types of doctors that may evaluate person with symptoms of adiposis dolorosa include internists, dermatologists, and endocrinologists. Once a diagnosis is made, other types of specialists may also be involved in the care of a person with adiposis dolorosa. These specialists may include plastic surgeons, pain specialists, and rheumatologists.

Source: Genetic and Rare Diseases (GARD) Information Center

Genetic Testing

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

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Use the slider below to see how your results affect your health.
Your result is Negative.
A negative (normal) result means that the test did not find a change that is known to affect health or development in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic variant, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder.
Related conditions
Genetic testing may be done for many different reasons, including to:
- Find genetic diseases in unborn babies. This is one type of prenatal testing.
- Screen newborn babies for certain treatable conditions
- Lower the risk of genetic diseases in embryos that were created using assisted reproductive technology
- Find out if you carry a gene for a certain disease that could be passed on to your children. This is called carrier testing.
- See whether you are at increased risk of developing a specific disease. This may be done for a disease that runs in your family.
- Diagnose certain diseases
- Identify genetic changes that may be causing or contributing to a disease that you were already diagnosed with
- Figure out how severe a disease is
- Help guide your doctor in deciding the best medicine and dosage for you. This is called pharmacogenomic testing.
There are no known risks to having a saliva test. There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:
- Depending on the results, you may feel angry, depressed, anxious, or guilty. This can be especially true if you are diagnosed with a disease that does not have effective treatments.
- You may be worried about genetic discrimination in employment or insurance
- Genetic testing may give you limited information about a genetic disease. For example, it cannot tell you whether you will have symptoms, how severe a disease might be, or whether a disease will get worse over time.
- Some genetic tests are expensive, and health insurance might only cover part of the cost. Or they may not cover it at all.
- Positive – the test found a genetic change known to cause disease.
- Negative – the test did not find a genetic change known to cause disease. Sometimes a negative result occurs when the wrong test was ordered or there isn’t a genetic cause for that person’s symptoms. A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it. If your test results are negative and there is no known genetic change in your family, a negative test result may not give you a definite answer. This is because you might not have been tested for the genetic change that runs in your family.
- Uncertain – a variant of unknown or uncertain significance means there isn’t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).
1. Genetic Testing | CDC. Sep 23, 2022 [accessed on Feb 23, 2022]
2. Genetic Testing: MedlinePlus. National Library of Medicine. Jun 11, 2021 [accessed on Feb 23, 2022]
3. What is genetic testing?: MedlinePlus Genetics [accessed on Feb 23, 2022]
4. Genetic Testing FAQ. Genome.gov [accessed on Feb 23, 2022]
5. Genetic testing and your cancer risk: MedlinePlus Medical Encyclopedia [accessed on Feb 23, 2022]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (21)

Genetic testing

Genetic testing fact sheet

Image by genome.gov

Genetic testing

Genetic testing existed before the Human Genome Project and the list of diseases that we can already screen for may be longer than you think.

Image by TheVisualMD

Genes and Genetic Defects

Genetic testing isn't new. In the 1960s, doctors were able to test newborn babies for certain rare single-gene disorders, such as phenylketonuria (PKU), a rare metabolic disease that causes mental retardation. (PKU can be prevented with a special diet if it's detected early, which was why it was critical to test newborns.)

Image by TheVisualMD

Mapping Your Future: Screening for Disease Risk

Image by TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Image by CDC

genetic analysis

Biotechnology - DNA analysis and treatment

Image by OpenClipart-Vectors/Pixabay

Family history (medicine)

An extended family in Spain

Image by Ojedamd

Biotechnology

This diagram shows the basic method used for extraction of DNA.

Image by CNX Openstax

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Video by Sanford Health/YouTube

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Video by Ambry Genetics/YouTube

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Video by Ambry Genetics/YouTube

Should You Get Genetic Testing During Your Pregnancy?

Video by St. Louis Children's Hospital/YouTube

Debating Embryonic Genetic Testing -- The Doctors

Video by The Doctors/YouTube

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

Video by AMITA Health/YouTube

MedGenome BRCA - Breast Cancer Genetic Testing

Video by MedGenome/YouTube

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

Video by UCLA Health/YouTube

Do I need Genetic Testing for Ichthyosis?

Video by foundation for ichthyosis/YouTube

What Is Genetic Testing? Understanding the Process and Its Results

Video by uvahealth/YouTube

How to Understand Your Genetic Testing Results

Video by Breast Cancer Answers®/YouTube

Genetic Testing 101 for People with Rare Diseases

Video by National Organization for Rare Disorders (NORD)/YouTube

What's the difference between genetic and genomic testing?

Video by Cancer Treatment Centers of America - CTCA/YouTube

Genetic testing

genome.gov

Genetic testing

TheVisualMD

Genes and Genetic Defects

TheVisualMD

Mapping Your Future: Screening for Disease Risk

TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

CDC

genetic analysis

OpenClipart-Vectors/Pixabay

Family history (medicine)

Ojedamd

Biotechnology

CNX Openstax

1:57

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Sanford Health/YouTube

1:06

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Ambry Genetics/YouTube

0:45

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Ambry Genetics/YouTube

3:04

Should You Get Genetic Testing During Your Pregnancy?

St. Louis Children's Hospital/YouTube

4:40

Debating Embryonic Genetic Testing -- The Doctors

The Doctors/YouTube

1:31

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

AMITA Health/YouTube

2:10

MedGenome BRCA - Breast Cancer Genetic Testing

MedGenome/YouTube

1:37

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

UCLA Health/YouTube

1:43

Do I need Genetic Testing for Ichthyosis?

foundation for ichthyosis/YouTube

2:01

What Is Genetic Testing? Understanding the Process and Its Results

uvahealth/YouTube

3:58

How to Understand Your Genetic Testing Results

Breast Cancer Answers®/YouTube

1:00:31

Genetic Testing 101 for People with Rare Diseases

National Organization for Rare Disorders (NORD)/YouTube

2:05

What's the difference between genetic and genomic testing?

Cancer Treatment Centers of America - CTCA/YouTube

Prenatal Genetic Screening

Prenatal Genetic Screening

Also called: Prenatal DNA Testing, Carrier Screening for Genetic Disorders

Genetic tests look at the genetic information, called DNA, carried inside a person’s cells. When genetic screening is done for a baby’s parents, it can determine if either or both of the parents carry genes for a disease or disorder that can be passed on to their child.

Prenatal Genetic Screening

Also called: Prenatal DNA Testing, Carrier Screening for Genetic Disorders

Genetic tests look at the genetic information, called DNA, carried inside a person’s cells. When genetic screening is done for a baby’s parents, it can determine if either or both of the parents carry genes for a disease or disorder that can be passed on to their child.

{"label":"Prenatal Genetic Screening Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"No genetic disorders found.","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"Possible genetic disorder. Confirmatory testing may be required. Talk with your genetic counselor to find out more about your results.","conditions":["Genetic disorder"]}],"value":0.5}[{"negative":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
No genetic disorders found.
Related conditions
You should consider genetic screening if:
- You or your partner has a family history of a specific genetic disorder, such as cystic fibrosis.
- You belong to an ethnic group in which a genetic disease is more common—for instance, sickle cell disease in African Americans.
- You will be 35 or older on your due date, as your chances of having a child with genetic abnormalities increase as you get older.
- You have experienced multiple miscarriages, because the presence of genetic abnormalities in the fetus may be causing the miscarriages.
1. https://arupconsult.com/content/carrier-screening-genetic-disorders [accessed on Sep 03, 2020]
2. https://medlineplus.gov/genetictesting.html [accessed on Jan 31, 2019]
3. https://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests?IsMobileSet=false [accessed on Jan 31, 2019]
4. https://kidshealth.org/en/parents/genetics.html [accessed on Jan 31, 2019]
5. https://www.stanfordchildrens.org/en/topic/default?id=uses-of-genetic-testing-90-P02160 [accessed on Jan 31, 2019]
6. https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827 [accessed on Jan 31, 2019]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (8)

Prenatal Screening and Genetic Testing: Expert Q&A

Video by UChicago Medicine/YouTube

Understanding options for expanding prenatal genetic screening with non-invasive prenatal testing

Video by Illumina/YouTube

Stanford Hospital's Dr. Jane Chueh on Prenatal Screening and Diagnosis

Video by Stanford Health Care/YouTube

An introduction to genetics & prenatal genetic testing

Video by Illumina/YouTube

Prenatal testing for chromosomal abnormalities

Video by Northwell Health/YouTube

Understanding Prenatal Screening and Testing Options at OSU Maternal Fetal Medicine

Video by Ohio State Wexner Medical Center/YouTube

Prenatal Testing

Video by Stanford Children's Health | Lucile Packard Children's Hospital Stanford/YouTube

Noninvasive Prenatal Screening Patient Education Animation

Video by Myriad Women's Health/YouTube

28:07

Prenatal Screening and Genetic Testing: Expert Q&A

UChicago Medicine/YouTube

3:46

Understanding options for expanding prenatal genetic screening with non-invasive prenatal testing

Illumina/YouTube

1:11:38

Stanford Hospital's Dr. Jane Chueh on Prenatal Screening and Diagnosis

Stanford Health Care/YouTube

3:21

An introduction to genetics & prenatal genetic testing

Illumina/YouTube

3:32

Prenatal testing for chromosomal abnormalities

Northwell Health/YouTube

14:57

Understanding Prenatal Screening and Testing Options at OSU Maternal Fetal Medicine

Ohio State Wexner Medical Center/YouTube

20:52

Prenatal Testing

Stanford Children's Health | Lucile Packard Children's Hospital Stanford/YouTube

2:39

Noninvasive Prenatal Screening Patient Education Animation

Myriad Women's Health/YouTube

Newborn Screening Tests

Newborn Blood Spot Screening

Also called: Newborn Blood Spot Test, NBS, Neonatal Heel Prick Test

Right after birth, babies need many important tests and procedures to ensure their health. Newborn screening detects disabling or possibly fatal conditions early enough so that treatments can reduce disability or death from that condition. The screening generally includes a variety of blood tests and a hearing test.

Newborn Blood Spot Screening

Also called: Newborn Blood Spot Test, NBS, Neonatal Heel Prick Test

Right after birth, babies need many important tests and procedures to ensure their health. Newborn screening detects disabling or possibly fatal conditions early enough so that treatments can reduce disability or death from that condition. The screening generally includes a variety of blood tests and a hearing test.

{"label":"Blood spot screening reference range","description":"Blood spot screening uses a few drops of blood from your baby\u2019s heel to determine if your baby might have one of many serious conditions. Early detection makes sure that babies who need it receive care, treatment, or intervention as early as possible, when it can work best. Results are reported as in-range, out-of-range and borderline.","scale":"lin","step":0.25,"items":[{"flag":"normal","label":{"short":"In-range","long":"In-range (normal)","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"An in-range (also called negative, normal, or low risk) result means that your baby probably does not have a condition detected by blood spot screening. Babies with in-range results do not need more testing.","conditions":[]},{"flag":"borderline","label":{"short":"Borderline","long":"Borderline","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"A borderline (also called inconclusive or medium risk) result means that your baby\u2019s screening results fall somewhere between an in-range and out-of-range result. Babies with borderline results need more screening or testing.","conditions":[]},{"flag":"abnormal","label":{"short":"Out-of-range","long":"Out-of-range (abnormal)","orientation":"horizontal"},"values":{"min":2,"max":3},"text":"An out-of-range (also called positive, abnormal, or high risk) result means that your baby might have the condition detected by the screening test. Babies with out-of-range results need more testing.","conditions":["Disorders detected by newborn screening"]}],"hideunits":true,"value":0.5}[{"normal":0},{"borderline":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
Your result is In-range (normal).
An in-range (also called negative, normal, or low risk) result means that your baby probably does not have a condition detected by blood spot screening. Babies with in-range results do not need more testing.
Related conditions
1. Newborn Screening. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [accessed on Jan 09, 2019]
2. What is newborn screening? - Genetics Home Reference - NIH [accessed on Jan 09, 2019]
3. Newborn screening tests: MedlinePlus Medical Encyclopedia [accessed on Jan 09, 2019]
4. Newborn blood spot test - NHS [accessed on Jan 09, 2019]
5. Frequently Asked Questions About Newborn Bloodspot Screening | National Newborn Screening and Global Resource Center [accessed on Jan 09, 2019]
6. New York | Baby's First Test | Newborn Screening | Baby Health [accessed on Jan 09, 2019]
7. Newborn Screening | Lab Tests Online [accessed on Jan 09, 2019]
8. Newborn Screening Tests (for Parents) [accessed on Jan 09, 2019]

Additional Materials (24)

Newborn screening

Newborn baby feet and letters of A, T, C G.

Image by www.genome.gov

Newborn Screening

Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers (a measurable substance or characteristic that is indicative of a disease).

Image by National Human Genome Research Institute (NHGRI)

Infographic Newborn screening system

Infographic Newborn screening system

Image by Colorado Department of Public Health and Environment

The Public Health Lab: Newborn Screening

Video by mnhealth/YouTube

Cystic Fibrosis Newborn Screening.

Video by Nemours/YouTube

Newborn Screening and Fabry Disease: What We Know and Don't Know

Video by Rare Disease Report/YouTube

Newborn Hearing Screening - Boys Town National Research Hospital

Video by BoysTownHospital/YouTube

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Video by Centers for Disease Control and Prevention (CDC)/YouTube

What is newborn screening? Animated video for parents.

Video by PerkinElmer, Inc./YouTube

Newborn Screening

Video by Mayo Clinic/YouTube

Cystic Fibrosis Newborn Screening Information for Pediatricians

Video by Nemours/YouTube

Newborn screening test: guidelines for care providers

Video by Sunnybrook Hospital/YouTube

Newborn Screening: A Personal Story

Video by March of Dimes/YouTube

Your Newborn's Health Screening

Video by KK Women's and Children's Hospital/YouTube

Cystic Fibrosis Newborn Screening | Cincinnati Children's

Video by Cincinnati Children's/YouTube

How Newborn Hearing Screening Helps Children

Video by Washington State Department of Health/YouTube

X-Linked Adrenoleukodystrophy: Newborn Screening in Males

Video by The WSRGN/YouTube

HGP10 Symposium: Whole Genome Sequencing in Newborn Screening - Jeff Botkin

Video by National Human Genome Research Institute/YouTube

Expanding Newborn Screening to X-ALD — What Else Might We Find and How Will This Impact Patients?

Video by UW Video/YouTube

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Video by Centers for Disease Control and Prevention (CDC)/YouTube

California Department of Public Health's Newborn Screening Program

Video by CA Public Health/YouTube

SCID

Video by Immune Deficiency Foundation/YouTube

Phenylketonuria (PKU)

Video by Nutricia Metabolics/YouTube

WHAT IS MLD? Metachromatic Leukodystrophy explained to all

Video by YourekaScience/YouTube

Newborn screening

www.genome.gov

Newborn Screening

National Human Genome Research Institute (NHGRI)

Infographic Newborn screening system

Colorado Department of Public Health and Environment

1:52

The Public Health Lab: Newborn Screening

mnhealth/YouTube

5:50

Cystic Fibrosis Newborn Screening.

Nemours/YouTube

3:37

Newborn Screening and Fabry Disease: What We Know and Don't Know

Rare Disease Report/YouTube

1:54

Newborn Hearing Screening - Boys Town National Research Hospital

BoysTownHospital/YouTube

14:52

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Centers for Disease Control and Prevention (CDC)/YouTube

3:19

What is newborn screening? Animated video for parents.

PerkinElmer, Inc./YouTube

2:25

Newborn Screening

Mayo Clinic/YouTube

8:16

Cystic Fibrosis Newborn Screening Information for Pediatricians

Nemours/YouTube

2:45

Newborn screening test: guidelines for care providers

Sunnybrook Hospital/YouTube

3:25

Newborn Screening: A Personal Story

March of Dimes/YouTube

9:30

Your Newborn's Health Screening

KK Women's and Children's Hospital/YouTube

2:42

Cystic Fibrosis Newborn Screening | Cincinnati Children's

Cincinnati Children's/YouTube

3:02

How Newborn Hearing Screening Helps Children

Washington State Department of Health/YouTube

6:20

X-Linked Adrenoleukodystrophy: Newborn Screening in Males

The WSRGN/YouTube

35:56

HGP10 Symposium: Whole Genome Sequencing in Newborn Screening - Jeff Botkin

National Human Genome Research Institute/YouTube

1:00:03

Expanding Newborn Screening to X-ALD — What Else Might We Find and How Will This Impact Patients?

UW Video/YouTube

1:04:18

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Centers for Disease Control and Prevention (CDC)/YouTube

3:24

California Department of Public Health's Newborn Screening Program

CA Public Health/YouTube

7:55

SCID

Immune Deficiency Foundation/YouTube

7:07

Phenylketonuria (PKU)

Nutricia Metabolics/YouTube

5:57

WHAT IS MLD? Metachromatic Leukodystrophy explained to all

YourekaScience/YouTube

Treatment

ClearRx prescription bottles

Image by Bart from New York, USA/Wikipedia

ClearRx prescription bottles

I went to Target's pharmacy today just so I could get my prescriptions filled in the fancy new ClearRx bottles designed by a School of Visual Arts graduate. I've never been any more excited about getting a prescription filled, although I'm annoyed the pharmacist didn't give each of them a different-colored ring and the red ones are boring (they just look like they're part of the bottle).

Image by Bart from New York, USA/Wikipedia

How Might Adiposis Dolorosa Be Treated?

There is currently no drug known to change the course of the disease. Available medications mainly focus on alleviating symptoms and may include:

prednisone or intravenous lidocaine for pain
traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often ineffective), or acetaminophen combined with an opioid analgesic
a cortisone/anesthetic injection for localized pain
diuretics for swelling of the fingers

Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon α-2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Prednisone: The Double-Edged Sword

It really is a wonder drug for my Crohn's Disease, however the side effects are truly horrific: en.wikipedia.org/wiki/Prednisone#Side-effects

Image by jsrcyclist

Prednisone: The Double-Edged Sword

jsrcyclist

Statistics

How common?

Image by Gerd Altmann

How common?

Image by Gerd Altmann

How Common Is Adiposis Dolorosa?

The condition most commonly develops between the ages of 45 and 60 years. It is 20 times more common in females who are postmenopausal, obese, or overweight. It may occur in women younger than age 45, but is almost never seen in children.

Source: Genetic and Rare Diseases (GARD) Information Center

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Adiposis Dolorosa

Adiposis dolorosa is a condition characterized by painful folds of fatty tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in post-menopausal, obese women of middle age. They can occur anywhere on the body and range in size. Explore causes, diagnosis, and treatment.

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