Rare Pediatrics News
Disease Profile
POEMS syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Adult
ICD-10
D47.7
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Polyneuropathy organomegaly; Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes syndrome; Crow-Fukase syndrome
Categories
Blood Diseases; Nervous System Diseases; Rare Cancers
Summary
POEMS
Symptoms
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 | ||
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
80%-99% of people have these symptoms | ||
Abnormality of skin physiology | 0011122 | |
Decreased activity of gonads
|
0000135 | |
Increased circulating |
0010702 | |
Lymphoproliferative disorder | 0005523 | |
Visceromegaly | 0003271 | |
30%-79% of people have these symptoms | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] |
0100759 |
0000819 | ||
Erectile dysfunction |
Abnormal erection
Erectile abnormalities
[ more ] |
0100639 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Enlarged male breast
|
0000771 | |
Hemangioma |
Strawberry mark
|
0001028 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypertrichosis | 0000998 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Leukonychia |
White discoloration of nails
|
0001820 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Metaphyseal sclerosis |
Increased bone density in wide portion of long bone
|
0004979 |
Pain | 0012531 | |
Papilledema | 0001085 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Pericardial effusion |
Fluid around heart
|
0001698 |
Pleural effusion |
Fluid around lungs
|
0002202 |
Primary adrenal insufficiency | 0008207 | |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Sclerosis of foot bone |
Increased bone density in foot bone
|
0100925 |
Sclerosis of hand bone |
Increased bone density in hand bone
|
0004054 |
Sclerosis of skull base |
Dense bone of skull base
|
0002694 |
Sclerotic vertebral endplates | 0004576 | |
Thickened skin |
Thick skin
|
0001072 |
Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
Weight loss | 0001824 | |
5%-29% of people have these symptoms | ||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
Arterial thrombosis |
Blood clot in artery
|
0004420 |
Hyperesthesia | 0100963 | |
Increased circulating prolactin concentration | 0000870 | |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Polycythemia |
Increased red blood cells
|
0001901 |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Venous thrombosis |
Blood clot in vein
|
0004936 |
Cause
Diagnosis
A diagnosis of POEMS syndrome requires both the presence of polyneuropathy and a monoclonal plasma cell proliferative disorder, plus the presence of at least one major and one minor criterion on a physical exam,
Major criteria include:
- An osteosclerotic or mixed sclerotic/lytic lesion seen on plain films or
CT scan measuring at least 0.8 cm in the longest dimension - Castleman's disease
- Elevated serum or plasma vascular endothelial growth factor (VEGF) levels at least 3 to 4 times the upper limit of normal
Minor criteria include:
- Organomegaly (enlargement of the spleen, liver, or
lymph nodes ) - Extravascular volume overload (peripheral edema, ascites, or pleural effusion)
- Endocrinopathy (excluding
diabetes mellitus or hypothyroidism) - Skin changes
- Papilledema
- Thrombocytosis or polycythemia
Many affected people are initially misdiagnosed as having other disorders, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). In addition, a number of conditions are associated with a plasma
Related diseases
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
|
---|
The main differential diagnoses are chronic inflammatory demyelinating polyneuropathy, AL amyloidosis and Guillain-Barré syndrome (see these terms). Monoclonal gammopathy of undetermined significance (MGUS) and should also be considered.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/ -
Neuropathy Association
60 East 42nd Street
Suite 942
New York, NY 10165
Telephone: 212-692-0662
E-mail: [email protected]
Website: https://www.neuropathy.org/
Learn more
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.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- The Merck Manual provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- TheDoctorsDoctor provides information on this condition. TheDoctorsDoctor is an online resource developed by pathologists. Click on TheDoctorsDoctor to view the information page.
- The MayoClinic Web site provides information on this topic. Click on MayoClinic to access the information page on POEMS syndrome.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on POEMS syndrome.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss POEMS syndrome. Click on the link to view a sample search on this topic.
References
- POEMS syndrome. DermNet NZ. September 13, 2014; https://dermnetnz.org/systemic/poems.html.
- Chan JL. POEMS Syndrome. Medscape Reference. March 6, 2013; https://emedicine.medscape.com/article/1097031-overview#a0199.
- S Vincent Rajkumar. POEMS syndrome. UpToDate. Waltham, MA: UpToDate; May 15, 2015;
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