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Disease Profile

POEMS syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 syndrome is a rare, mulitisystem disorder. POEMS stands for the disorder's features, which may include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. Signs and symptoms may include progressive sensorimotor polyneuropathy; enlarged liver, spleen, and/or lymph nodes; a disorder of the endocrine glands (often with multiple abnormalities); a monoclonal plasma cell proliferative disorder; and darkening of the skin (hyperpigmentation). Various other symptoms may also occur and may vary among affected people. The underlying cause of the disorder is not well understood. POEMS syndrome is a chronic disorder, with a median survival time of 8-14 years. There is no standard treatment; management depends on the underlying plasma cell disorder and may include radiation therapy, chemotherapy, and/or hematopoietic cell transplantation.[1]

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
Hypogonadism
Decreased activity of gonads
0000135
Increased circulating antibody level
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
Diabetes mellitus
0000819
Erectile dysfunction
Abnormal erection
Erectile abnormalities

[ more ]

0100639
Fatigue
Tired
Tiredness

[ more ]

0012378
Gynecomastia
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 hypertension
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

The cause of POEMS syndrome is not well understood. POEMS syndrome is a paraneoplastic disorder, which means that the signs and symptoms of the syndrome appear as a manifestation of the plasma cell disorder that the patient has (most patients are seen with osteosclerotic myeloma or monoclonal gammopathy of unknown significance); however, the mechanism by which this occurs is unknown. It is associated with a chronic overproduction of some substances known as pro-inflammatory cytokines (small molecules that act as messengers between cells to promote inflammation). These include interleukins (IL-1b, IL6) which are cytokines that help regulate immune responses, TNFα (Tumor Necrosis Factor alfa is a cytokine which is involved in the inflammatory process) and vascular endothelial growth factor (VEGF – a powerful vasodilator that may cause leaky blood vessels) which seem to be important in this disorder.[1][2]

Diagnosis

People who are suspected of having POEMS syndrome should first have their medical history evaluated and undergo a complete physical exam. Features suggestive of POEMS syndrome in the history include complaints of neurological symptoms, skin changes, signs of extravascular volume overload, and symptoms suggestive of an endocrine disorder (such as gynecomastia or irregular periods). A detailed physical exam should include an eye exam for papilledema; a neurologic exam; evaluation for enlargement of organs (organomegaly); examination of the skin; and evaluation for the presence of peripheral edema (swelling due to fluid accumulation), pleural or pericardial effusion (fluid build-up around the lungs or heart), ascites, clubbing (enlargement of the fingertips), heart failure, and cardiomyopathy.[3]

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, imaging, or laboratory evaluation.[3]

Major criteria include:

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 cell disorder and polyneuropathy (with or without osteosclerotic bone lesions), and need to be distinguished from POEMS syndrome.[3]

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

    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

        1. POEMS syndrome. DermNet NZ. September 13, 2014; https://dermnetnz.org/systemic/poems.html.
        2. Chan JL. POEMS Syndrome. Medscape Reference. March 6, 2013; https://emedicine.medscape.com/article/1097031-overview#a0199.
        3. S Vincent Rajkumar. POEMS syndrome. UpToDate. Waltham, MA: UpToDate; May 15, 2015;

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