POEMS Syndrome

Resumen

Summary

POEMS syndrome is an extremely rare paraneoplastic syndrome. Paraneoplastic syndromes are caused by an abnormal immune response to a cancerous tumor (neoplasm) where the body accidently attacks normal cells in the nervous system. POEMS is an acronym that stands for the disorder’s five major signs and symptoms, which include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin abnormalities. Common symptoms include progressive weakness of the nerves in the arms and legs (sensorimotor polyneuropathy), an abnormally enlarged liver and/or spleen (hepatosplenomegaly), enlarged lymph nodes (lymphadenitis), darkening of the skin (hyperpigmentation), thickening of the skin and excessive hair growth (hypertrichosis).

POEMS syndrome occurs 1.5 times more frequently among men than women, and the typical age of onset is adults in their 50s. The exact cause of POEMS syndrome is unknown, but research suggests that a chemical called VEGF (vascular endothelial growth factor) plays an important role in this disease.

POEMS syndrome is a chronic disorder and the prognosis depends on the extent of the disease and an individual’s response to treatment. There is no standard treatment for POEMS syndrome. Treatment options for patients diagnosed with POEMS syndrome include radiation therapy, chemotherapy, and/or hematopoietic cell transplantation. The median survival for patients with POEMS syndrome is more than14 years.

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Sinónimos

• Crow-Fukase syndrome
• osteosclerotic myeloma
• polyneuropathy, organomegaly, endocrinopathy, m-protein and skin changes syndrome
• Takatsuki syndrome

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Signos y Síntomas

POEMS syndrome is a rare, multisystem paraneoplastic syndrome. POEMS stands for some of the major signs and symptoms associated with the disease. The major criteria for POEMS syndrome include polyneuropathy, monoclonal gammopathy and either osteosclerotic lesion, Castleman disease, or elevated levels of vascular endothelial growth factor (VEGF) in addition to at least one minor criterion listed below.

Summary of symptoms identified in patients with POEMS syndrome:

Polyneuropathy

Polyneuropathy is a disease affecting nerves throughout the body. Symptoms of polyneuropathy include:

• • Weakness, pain, numbness and/or tingling in toes, feet, legs and hands
  • Burning, tickling, numbness and prickling of the skin (paresthesia)
  • Reduced muscle response to stimuli (areflexia)

Organomegaly

Organomegaly is the abnormal enlargement of an organ or organs in the body. Symptoms of organomegaly in patients with POEMS syndrome include:

• • Abnormally large liver (hepatomegaly)
  • Abnormally enlarged spleen (splenomegaly)
  • Abnormally enlarged lymph nodes (lymphadenopathy)
  • Swollen lymph nodes (Castleman disease or angiofollicular lymph node hyperplasia)

Endocrinopathy

Endocrinopathy is when abnormal hormone levels are produced by the endocrine system (system of glands that secrete hormones into the blood). Symptoms of endocrinopathy in POEMS syndrome patients include:

• • Low production of sex hormones (hypogonadism)
  • Trouble regulating blood sugar (diabetes mellitus or impaired glucose tolerance)
  • Underactive thyroid gland (hypothyroidism)
  • Abnormal function of the adrenal glands (primary adrenal insufficiency)
  • Males can also experience:
    • Enlargement of breasts (gynecomastia)
    • Impotence (erectile disfunction)
  • Females can also experience:
    • Absent menstrual cycle (amenorrhea)
    • Increased breast development and circulation of prolactin, a milk producing hormone
    • Abnormal discharge of milk from nipples (galactorrhea)

Monoclonal gammopathy

Monoclonal gammopathy is when abnormal bone marrow cells (plasma cells) that produce a protein (monoclonal protein) can be found in the bloodstream. Plasma cells are a key component of the immune system but overproduction of these cells in individuals with POEMS syndrome may result in these symptoms:

• • Abnormal plasma cells that produce monoclonal protein
  • Overabundance of M-proteins in the blood
  • Formation of plasma cell tumors (plasmacytomas)
  • Bone thickening or hardening (osteosclerosis)

Skin abnormalities

• • Abnormal darkening of the skin (hyperpigmentation)
  • Excessive hair growth (hypertrichosis)
  • Thickening of the skin (scleroderma)
  • Excessive sweating (hyperhidrosis)
  • Blue or dusty looking extremities (acrocyanosis)
  • White discoloration of nails (leukonychia)
  • Outcropping of cherry angiomata
  • Clubbed fingernails
  • Fat wasting notable at temples (lipodystrophy)

Additional blood abnormalities

• • Elevated level of platelets (thrombocytosis)
  • Elevated number of red blood cells (polycythemia)
  • Blood clots in arteries (arterial thrombosis)
  • Blood clots in veins (venous thrombosis)
  • High blood pressure in arteries of the lungs (pulmonary arterial hypertension)

Breathing problems

• • Fluid in the lungs (pleural effusion)
  • Muscle weakness which can lead to trouble breathing (respiratory insufficiency)
  • Reduced total lung capacity (restrictive ventilatory defect)

Other Symptoms

• • Swelling of the optic nerve at the back of the eye which could result in visual disturbances, headaches and nausea (papilledema)
  • Fluid around the heart (pericardial effusion)
  • Fluid in the arms and legs (edema)
  • Fluid in the peritoneal cavity of the abdomen (ascites)
  • Weight loss
  • Fatigue

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Causas y Herencia

The exact cause of POEMS syndrome is unknown. POEMS syndrome is associated with an overproduction of molecules that promote inflammation through cell-to-cell communication (pro-inflammatory cytokines). Studies have demonstrated abnormally high levels of vascular endothelial growth factor (VEGF) and pro-inflammatory cytokines, interleukin-6, interleukin-1 and TNF-alpha in the blood of individuals with POEMS syndrome. Cytokines are proteins that are produced by the body’s immune system in response to inflammation. More research is needed to determine the exact role cytokines and VEGF play in the development of POEMS syndrome.

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Frecuencia

POEMS syndrome affects 1.5 times more men than women, and disease onset usually occurs during a patient’s 40s to 60s. POEMS syndrome often goes unrecognized, making it difficult to determine the number of people afflicted with the disease.

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Enfermedades con síntomas similares

Symptoms of the following disorders can be similar to those of POEMS syndrome. Comparisons may be useful for a differential diagnosis:

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder in which there is swelling of nerve roots and peripheral nerves as well as destruction of the fatty protective covering (myelin sheath) of the nerves. This disorder causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs. Sensory loss may also be present causing numbness, tingling or prickling sensations in affected areas. The motor and sensory impairments are usually on both sides of the body (symmetrical) and the degree of severity and disease course may vary. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and relapse. A distinct feature of CIDP is that most patients cannot identify a preceding viral infection or illness. (For more information on this disorder, choose “chronic inflammatory demyelinating polyneuropathy” as your search term in the Rare Disease Database.)

Amyloid light chains (AL) amyloidosis is a systematic disorder caused by an abnormality in white blood cells (plasma cells) of the bone marrow. As a result of this bone marrow disorder, misfolded, amyloid proteins are formed and deposited in and around tissues, nerves and organs. A gradual build-up of these amyloid proteins in tissues, nerves, and organs can damage and impair their function over time. Common symptoms include protein in the urine, blood pressures changes, stiffening of the heart and kidney issues. Other symptoms include fatigue, weight loss, diarrhea/constipation, dizziness, shortness of breath and general pain. (For more information on this disorder, choose “amyloidosis” as your search term in Rare Disease Database.)

Guillain-Barré syndrome is a rare disorder in which the body’s immune system attacks the peripheral nervous system, the system carrying signals from the brain to muscles throughout the body. Symptoms associated with Guillain-Barré syndrome include muscle weakness, numbness and tingling sensation that begins in the arms and legs then spreads to the upper body. Loss of muscle function can occur overtime (paralysis). The exact cause of Guillain-Barré syndrome is unknown. (For more information on this disorder, choose “Guillain-Barré syndrome” as your search term in Rare Disease Database.)

Monoclonal gammopathy of undetermined significance (MGUS) is a condition in which an abnormal protein (monoclonal protein) is detected in the blood. Traditionally MGUS does not cause any problems, but some symptoms can include numbness, tingling or weakness. In some patients, MGUS has progressed into different forms of blood cancer overtime (multiple myeloma, macroglobulinemia or B-cell lymphoma).

Chronic ataxic neuropathy with ophthalmoplegia (CANOMAD) is an antibody-associated neuropathy that is caused by a certain type of antibody (IgM). The origin of the IgM antibodies is not known. This disease is more common in males than females, and the typical age of onset is during a patient’s 60s. The muscle pain and weakness is often severe but progresses more slowly than POEMS syndrome.

The following disorders may occur in association with POEMS syndrome:

Castleman disease (CD) is a rare disorder that involves overgrowth of cells in the lymph nodes and related tissues. There are two main types: unicentric CD and multicentric CD. Unicentric CD is a “localized” condition that is confined to a single set of lymph nodes, while multicentric CD is a “systemic” disease that affects multiple sets of lymph nodes. Most often, the enlarged lymph nodes occur in the chest, stomach and/or neck. Less common sites include the armpit (axilla), pelvis and pancreas. Most individuals with unicentric CD exhibit no symptoms (asymptomatic). Multicentric Castleman disease may be associated with fever, weight loss, skin rash, peripheral neuropathy and enlarged lymph nodes. Many individuals with multicentric Castleman disease may exhibit an abnormally large liver and spleen (hepatosplenomegaly). It is not clear what causes Castleman disease. (For more information on this disorder, choose “Castleman” as your search term in the Rare Disease Database.)

Osteosclerotic myeloma is a variant of multiple myeloma, a rare condition characterized by excessive production (proliferation) and improper function of certain cells (plasma cells) of the bone marrow. If there are symptoms other than CRAB (hypercalcemia, renal dysfunction, anemia, or sclerotic bone lesions, a diagnosis of POEMS syndrome could be considered. These patients have symptoms akin to regular multiple myeloma but for reasons that are unknown, instead of lytic (thin and holey bones), there is osteosclerosis, which is a condition marked by abnormal density and hardening of bone. The exact cause of osteosclerotic myeloma is not known. (For more information on this disorder, choose “multiple myeloma” as your search term in the Rare Disease Database.)

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Diagnóstico

Patients suspected of having POEMS syndrome should undergo a thorough clinical evaluation to include a physical exam, medical history review and laboratory testing. The detailed physical exam includes examination of the eyes, skin and neurological status as well as overall function of organs and body.

Confirmation of certain immunologic abnormalities plays an essential role in establishing the diagnosis of POEMS syndrome. Laboratory tests conducted on the blood (serum) or cerebrospinal fluid (CSF) may reveal elevated levels of M-proteins and blood plasma may show high levels of vascular endothelial growth factor (VEGF). Skeletal imaging may be performed to detect osteosclerotic lesions characteristic of POEMS syndrome. In many patients, surgical removal (biopsy) and microscopic examination of small samples of tissue from an osteosclerotic lesion or a bone marrow biopsy will reveal the abnormal presence of monoclonal plasma cells.

In order to be diagnosed with POEMS syndrome, a person must present both polyneuropathy and monoclonal plasma cell proliferative disorder in addition to one major criterion and one minor criterion. The other major criteria for POEMS syndrome include osteosclerotic lesion, Castleman disease, and elevated levels of vascular endothelial growth factor (VEGF). Minor criteria for POEMS syndrome include enlargement of organs (organomegaly), extracellular fluid accumulation (peripheral edema, ascites, or pleural effusion), endocrinopathy, skin changes, swelling of the optic disc (papilledema) and elevated blood cell count (polycythemia or thrombocytosis).

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Tratamiento

Treatment

Current treatments for POEMS syndrome focus on improvement of symptoms and can lead to good prognosis in patients.

The use of ionizing radiation (radiotherapy) or surgical removal (excision) of osteosclerotic lesions that are localized (not spread throughout the body) may temporarily or permanently lead to remission of symptoms associated with POEMS syndrome.

In many patients, including those with widespread unusual hardening of bone (osteosclerotic lesions) or diffuse bone marrow involvement, therapy with certain anticancer drugs (alkylating chemotherapy agents) may alleviate symptoms associated with POEMS syndrome.

Some patients with widespread disease may also receive high doses of chemotherapy followed by infusion of healthy blood stem cells from their own body (autologous stem cell transplant). Additional therapies used to treat POEMS syndrome include lenalidomide, thalidomide and bortezomib depending on a patient’s disease course. Other treatment such as physical therapy and medications to relieve swelling can help with improving mobility and other symptoms of POEMS syndrome.

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Investigaciones

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact: www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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Referencias

JOURNAL ARTICLES

Dispenzieri A. POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management. Am J Hematol. 2021 Jul 1;96(7):872-888.
doi: 10.1002/ajh.26240. Epub 2021 May 31.

Brown R, Ginsberg L. POEMS syndrome: clinical update. Journal of Neurology.
2018;266(1):268-277.

Jaccard A. POEMS Syndrome: Therapeutic Options. Hematol Oncol Clin North Am. 2018;32(1):141-151.

Keddie S, Lunn MP. POEMS syndrome. Curr Opin Neurol. 2018;31(5):551-558.

Dispenzieri A. How I treat POEMS syndrome. Blood. 2012;119(24):5650-5658.
Nasu S, Misawa S, et al. Different neurological and physiological profiles in POEMS syndrome and chronic inflammatory demyelinating polyneuropathy. Journal of neurology, neurosurgery, and psychiatry. 2012;83(5):476-479.

Mauermann ML, Sorenson EJ, et al. Uniform demyelination and more severe axonal loss distinguish POEMS syndrome from CIDP. J Neurol Neurosurg Psychiatry. 2012;83(5):480-486.

D’Souza A, Lacy M, et al. Long-term outcomes after autologous stem cell transplantation for patients with POEMS syndrome (osteosclerotic myeloma): a single-center experience. Blood. 2012;120(1):56-62.

Briani C, Fabrizi GM, et al. Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. Muscle Nerve. 2012;43(2):164-167.

Li J, Zhang W, et al. Combination of melphalan and dexamethasone for patients with newly diagnosed POEMS syndrome. Blood. 2011;117(24):6445-6449.

Kuwabara S, Misawa S, et al. Neurologic improvement after peripheral blood stem cell transplantation in POEMS syndrome. Neurology. 2008;71(21):1691-1695.

Rovira M, et al. Dramatic improvement of POEMS syndrome following autologous haematopoietic cell transplantation. Br J Haematol. 2001;115:373-75.

Soubrier M, et al. Growth factors and proinflammatory cytokines in the renal involvement of POEMS syndrome. Am J Kidney Dis. 1999;34:633-8.

Arimura K. Increased vascular endothelial growth factor (VEGF) is causative in Crow-Fukase syndrome. Rinsho Shinkeigaku. 1999;39:84-5.

INTERNET

POEMS syndrome. Mayo Clinic. Published April 2, 2020.
https://www.mayoclinic.org/diseases-conditions/poems-syndrome/symptoms-causes/syc-20352678 Accessed July 19, 2021.

Chan JL. POEMS Syndrome. Medscape. Updated: Sep 17, 2020.
https://emedicine.medscape.com/article/1097031-overview#showall Accessed July 19, 2021.

POEMS Syndrome. Cleveland Clinic. Reviewed 04/16/2019.
https://my.clevelandclinic.org/health/diseases/17985-poems-syndrome
Accessed July 19, 2021.

POEMS syndrome. Genetic and Rare Diseases Information Center. Last updated: 2/1/2021.
https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome Accessed July 19, 2021.

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