POEMS syndrome differential diagnosis: Difference between revisions

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Revision as of 04:06, 7 February 2019

Overview

POEMS syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.

Differentiating POEMS Syndrome From Other Diseases

The table below summarizes how to differentiate POEMS syndrome from other conditions that have a similar presentation:^[1]^[2]^[3]^[4]^[5]^[6]^[7]

Organ System Involvement		Differential Diagnosis	Causes	Clinical Features	Therapy
P = Polyneuropathy		POEMS syndrome (Demyelinating)	Monoclonal plasma cell proliferation Cytokine storm (IL-1, IL-6, IL-12, TNF alpha, VEGF)
		Metabolic Syndrome (Axonal pathology)	Diabetes mellitus
		Vitamin Deficiencies (Axonal Pathology)	Vitamin B12 deficiency Vitamin B1 deficiency
		Guillain-Barre Syndrome (Demyelinating)	Viral infections: Epstein Barr virus HIV Cytomegalovirus Varicella Zoster virus Bacterial infections: Campylobacter infection Mycoplasma pneumoniae	Rapid onset and quick progression Progression stops after 2-3 weeks Bilateral ascending paraesthesias and paralysis (generalized) Weakness Ataxia Areflexia No fever
		Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) (Demyelinatiing)		Slow onset and gradual progression Relapsing and remitting course Symmetrical proximal and distal motor and sensory weakness (legs>arms) Foot drop Numbness, tingling and pain Areflexia
		Multifocal Motor Neuropathy
		Environmental Toxicity
Organ System Involvement		Differential Diagnosis	Causes	Features	Therapy
O = Organomegaly (Hepatosplenomegaly and Lymphadenopathy)		POEMS syndrome	Monoclonal plasma cell proliferation Cytokine storm (IL-1, IL-6, IL-12, TNF alpha, VEGF)
		Malaria
		Kala-azar
		Infective Hepatitis
		Chronic Myelogenous Leukemia (CML)
		Lymphoma
		Amyloidosis
		Gaucher's Disease
Organ System Involvement		Differential Diagnosis	Causes	Features	Therapy
E = Endocrinopathy (Hypogonadism, Hypothyroidism, Hypopituitarism)	Hypogonadism
	Hypogonadism
	Hypothyroidism	Primary Hypothyroidism	Congenital hypothyroidism Autoimmune (Hashimoto's) thyroiditis Resistance to TSH
		Secondary Hypothyroidism	Pituitary mass lesions, especially pituitary adenomas Brain cysts and abscesses Meningiomas Dysgerminomas Metastatic tumors Craniopharyngiomas Pituitary apoplexy Sheehan syndrome (postpartum pituitary necrosis) Idiopathic isolated TSH deficiency Lymphocytic or granulomatous hypophysitis
		Tertiary Hypothyroidism	Hemochromatosis Histiocytosis Developmental abnormalities Internal carotid aneurysms Idiopathic isolated TRH deficiency
	Hypopituitarism
Organ System Involvement		Differential Diagnosis	Causes	Features	Therapy
M = M-protein ( Hematological Abnormality/Plasma Cell Dyscrasias)		POEMS Syndrome	Monoclonal plasma cell proliferation Cytokine storm (IL-1, IL-6, IL-12, TNF alpha, VEGF)
		Multiple myeloma	Chromosomal aberrations or other genetic insults Malignant transformation of plasma cells Clonal plasma cell proliferation	Diffuse bone pain and tenderness with osteolytic lesions Renal failure Hypercalcemia Anemia	Induction chemotherapy with bortezomib, lenalidomide, and dexamethasone Bisphosphonates RANK ligand inhibitors (denosumab) Autologous stem cell transplantation
		Monoclonal gammopathy of undetermined significance (MGUS)	Chromosomal aberrations or other genetic insults Clonal plasma cell proliferation	Asymptomatic Serum M protein of <30 g/L Fewer than 10% plasma cells in the bone marrow No evidence of bone or organ damage	Observation
		Asymptomatic Plasma Cell Myeloma (Smoldering and Indolent plasma cell myeloma)	Chromosomal aberrations or other genetic insults Malignant transformation of plasma cells Clonal plasma cell proliferation	Asymptomatic Serum M protein of >30 g/L Greater than 10% plasma cells in the bone marrow No evidence of bone or organ damage	Observation
		Plasma Cell Leukemia	Chromosomal aberrations or other genetic insults Malignant transformation of plasma cells	Renal failure Hypercalcemia Cytopenias No bone lesions	Chemotherapy
		Plasmacytoma	Chromosomal aberrations or other genetic insults Malignant transformation of plasma cells	Solitary bone plasmacytoma (bone) Extramedullary plasmacytoma (soft tissues) Clinical manifestations related to tumor mass and compression symptoms	Surgery
Bone Lesions		Osteoporosis	Imbalance between bone resorption and bone formation Preceded by osteopenia Decreased bone mineral density	Acute musculoskletal pain if fractures develop Severe decrease in BMD on dual-energy X-ray absorptiometry (DEXA) test T score less than -2.5 on DEXA scan	Calcium and vitamin D supplementation Bisphosphonates Weight-bearing exercise Teriparatide RANK ligand inhibitors (denosumab)
		Osteomalacia	Inadequate mineralization of bone Deficiency of vitamin D calcium, or phosphorus Renal tubular acidosis Malabsorption	Diffuse bone pain, fatigue, and fractures Low bone mineral density (BMD) Hypocalcemia	Vitamin D3 supplementation
		Osteogenesis imperfecta	Mutations in COL1A1 or COL1A2 Impaired type I collagen synthesis	Short stature, scoliosis, and propensity for fractures Blue discoloration of sclera	Bisphosphonates Physical therapy Surgical fixation of brittle bones Genetic counseling for offspring
Skin Changes		Scurvy	Vitamin C deficiency Malabsorption Hemodialysis	Gum disease such as gum bleeding Loose teeth Easy bruising Impaired immune response Impaired wound healing	Vitamin C supplementation Citrus fruits
		Homocystinuria	Deficiency of cystathionine beta synthase Deficiency of folate, vitamin B12, or vitamin B6	Diffuse bone pain and musculoskeletal symptoms	High-dose vitamin B6 supplementation Betaine supplementation

Other Differentials

POEMS syndrome must also be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.^[8]^[9]^[10]^[11]^[12]

Disease	Addison's disease	Type 1 diabetes mellitus	Hypothyroidism	Other disorders present
POEMS syndrome	+	Less common	Less common	Hypoparathyroidism Candidiasis Hypogonadism
APS type 2	+	+	+	Hypogonadism Malabsorption
APS type 3	-	+	+	Malabsorption
Thymoma	+	-	+	Myasthenia gravis Cushing syndrome
Chromosomal abnormalities (Turner syndrome, Down's syndrome)	-	+	+	Cardiac dysfunction
Kearns–Sayre syndrome	-	+	-	Myopathy Hypoparathyroidism Hypogonadism
Wolfram syndrome	-	+	-	Diabetes insipidus Optic atrophy Deafness
POEMS syndrome	-	+	-	Polyneuropathy Hypogonadism Plasma cell dyscrasias

References

↑ "Myeloma - SEER Stat Fact Sheets". Retrieved 17 February 2014.
↑ Zuo QY, Wang H, Li W, Niu XH, Huang YH, Chen J; et al. (2017). "Treatment and outcomes of tumor-induced osteomalacia associated with phosphaturic mesenchymal tumors: retrospective review of 12 patients". BMC Musculoskelet Disord. 18 (1): 403. doi:10.1186/s12891-017-1756-1. PMC 5609032. PMID 28934935.
↑ Shaker JL, Albert C, Fritz J, Harris G (2015). "Recent developments in osteogenesis imperfecta". F1000Res. 4 (F1000 Faculty Rev): 681. doi:10.12688/f1000research.6398.1. PMC 4566283. PMID 26401268.
↑ Kumar A, Palfrey HA, Pathak R, Kadowitz PJ, Gettys TW, Murthy SN (2017). "The metabolism and significance of homocysteine in nutrition and health". Nutr Metab (Lond). 14: 78. doi:10.1186/s12986-017-0233-z. PMC 5741875. PMID 29299040.
↑ Soh KT, Tario JD, Wallace PK (December 2017). "Diagnosis of Plasma Cell Dyscrasias and Monitoring of Minimal Residual Disease by Multiparametric Flow Cytometry". Clin. Lab. Med. 37 (4): 821–853. doi:10.1016/j.cll.2017.08.001. PMC 5804349. PMID 29128071.
↑ Kyle RA, Rajkumar SV (January 2009). "Criteria for diagnosis, staging, risk stratification and response assessment of multiple myeloma". Leukemia. 23 (1): 3–9. doi:10.1038/leu.2008.291. PMC 2627786. PMID 18971951.
↑ Rajkumar SV, Landgren O, Mateos MV (May 2015). "Smoldering multiple myeloma". Blood. 125 (20): 3069–75. doi:10.1182/blood-2014-09-568899. PMC 4432003. PMID 25838344.
↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
↑ Nozza, Andrea (2017). "POEMS SYNDROME: AN UPDATE". Mediterranean Journal of Hematology and Infectious Diseases. 9 (1): e2017051. doi:10.4084/mjhid.2017.051. ISSN 2035-3006.
↑ Maceluch JA, Niedziela M (2006). "The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy". Pediatr Endocrinol Rev. 4 (2): 117–37. PMID 17342029.
↑ Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512–7. doi:10.1097/MOP.0b013e328354ccdf. PMID 22790102.
↑ Husebye, Eystein S.; Anderson, Mark S. (2010). "Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis". Immunity. 32 (4): 479–487. doi:10.1016/j.immuni.2010.03.016. ISSN 1074-7613.

Template:WikiDoc Sources

[seer-1] "Myeloma - SEER Stat Fact Sheets". Retrieved 17 February 2014.

[pmid28934935-2] Zuo QY, Wang H, Li W, Niu XH, Huang YH, Chen J; et al. (2017). "Treatment and outcomes of tumor-induced osteomalacia associated with phosphaturic mesenchymal tumors: retrospective review of 12 patients". BMC Musculoskelet Disord. 18 (1): 403. doi:10.1186/s12891-017-1756-1. PMC 5609032. PMID 28934935.

[pmid26401268-3] Shaker JL, Albert C, Fritz J, Harris G (2015). "Recent developments in osteogenesis imperfecta". F1000Res. 4 (F1000 Faculty Rev): 681. doi:10.12688/f1000research.6398.1. PMC 4566283. PMID 26401268.

[pmid29299040-4] Kumar A, Palfrey HA, Pathak R, Kadowitz PJ, Gettys TW, Murthy SN (2017). "The metabolism and significance of homocysteine in nutrition and health". Nutr Metab (Lond). 14: 78. doi:10.1186/s12986-017-0233-z. PMC 5741875. PMID 29299040.

[pmid29128071-5] Soh KT, Tario JD, Wallace PK (December 2017). "Diagnosis of Plasma Cell Dyscrasias and Monitoring of Minimal Residual Disease by Multiparametric Flow Cytometry". Clin. Lab. Med. 37 (4): 821–853. doi:10.1016/j.cll.2017.08.001. PMC 5804349. PMID 29128071.

[pmid18971951-6] Kyle RA, Rajkumar SV (January 2009). "Criteria for diagnosis, staging, risk stratification and response assessment of multiple myeloma". Leukemia. 23 (1): 3–9. doi:10.1038/leu.2008.291. PMC 2627786. PMID 18971951.

[pmid25838344-7] Rajkumar SV, Landgren O, Mateos MV (May 2015). "Smoldering multiple myeloma". Blood. 125 (20): 3069–75. doi:10.1182/blood-2014-09-568899. PMC 4432003. PMID 25838344.

[pmid21533467-8] Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.

[Nozza2017-9] Nozza, Andrea (2017). "POEMS SYNDROME: AN UPDATE". Mediterranean Journal of Hematology and Infectious Diseases. 9 (1): e2017051. doi:10.4084/mjhid.2017.051. ISSN 2035-3006.

[pmid17342029-10] Maceluch JA, Niedziela M (2006). "The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy". Pediatr Endocrinol Rev. 4 (2): 117–37. PMID 17342029.

[pmid22790102-11] Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512–7. doi:10.1097/MOP.0b013e328354ccdf. PMID 22790102.

[HusebyeAnderson2010-12] Husebye, Eystein S.; Anderson, Mark S. (2010). "Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis". Immunity. 32 (4): 479–487. doi:10.1016/j.immuni.2010.03.016. ISSN 1074-7613.

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@@ Line 12: / Line 12: @@
 ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}}
 ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Causes}}
-! style="background: #4479BA; width: 300px;" | {{fontcolor|#FFF|Features}}
+! style="background: #4479BA; width: 300px;" | Clinical {{fontcolor|#FFF|Features}}
+!Laboratory Findings
+!Gold Standard Test
 ! style="background: #4479BA; width: 300px;" | {{fontcolor|#FFF|Therapy}}
 |-
 | colspan="2" rowspan="7" style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''''P = Polyneuropathy'''''
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''POEMS syndrome'''
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''POEMS syndrome (Demyelinating)'''
 |
 * Monoclonal plasma cell proliferation
 * Cytokine storm (IL-1, IL-6, IL-12, TNF alpha, VEGF)
+|
+|
 |
 |
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Metabolic Syndrome'''
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Metabolic Syndrome (Axonal pathology)'''
 |
 * Diabetes mellitus
+|
+|
 |
 |
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Vitamin Deficiencies'''
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Vitamin Deficiencies (Axonal Pathology)'''
 |
 * Vitamin B12 deficiency
 * Vitamin B1 deficiency
+|
+|
 |
 |
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Guillain-Barre Syndrome'''
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Guillain-Barre Syndrome (Demyelinating)'''
 |
 * Viral infections:
@@ Line 46: / Line 54: @@
 ** Campylobacter infection
 ** Mycoplasma pneumoniae
+|
+* Rapid onset and quick progression
+* Progression stops after 2-3 weeks
+* Bilateral ascending paraesthesias and paralysis (generalized)
+* Weakness
+* Ataxia
+* Areflexia
+* No fever
+|
 |
 |
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)'''
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) (Demyelinatiing)'''
 |
 *
+|
+* Slow onset and gradual progression
+* Relapsing and remitting course
+* Symmetrical proximal and distal motor and sensory weakness (legs>arms)
+* Foot drop
+* Numbness, tingling and pain
+* Areflexia
+|
 |
 |
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Multifocal Motor Neuropathy'''
+|
+|
 |
 |
@@ Line 61: / Line 88: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Environmental Toxicity'''
+|
+|
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 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Causes'''}}
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Features'''}}
+|
+|
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Therapy'''}}
 |-
@@ Line 76: / Line 107: @@
 * Monoclonal plasma cell proliferation
 * Cytokine storm (IL-1, IL-6, IL-12, TNF alpha, VEGF)
+|
+|
 |
 |
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Malaria'''
+|
+|
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@@ Line 85: / Line 120: @@
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 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Kala-azar'''
+|
+|
 |
 |
@@ Line 90: / Line 127: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Infective Hepatitis'''
+|
+|
 |
 |
@@ Line 95: / Line 134: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Chronic Myelogenous Leukemia (CML)'''
+|
+|
 |
 |
@@ Line 100: / Line 141: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Lymphoma'''
+|
+|
 |
 |
@@ Line 105: / Line 148: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Amyloidosis'''
+|
+|
 |
 |
@@ Line 110: / Line 155: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Gaucher's Disease'''
+|
+|
 |
 |
@@ Line 118: / Line 165: @@
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Causes'''}}
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Features'''}}
+|
+|
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Therapy'''}}
 |-
 | rowspan="6" style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''''E = Endocrinopathy (Hypogonadism, Hypothyroidism, Hypopituitarism)'''''
 | rowspan="2" style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |Hypogonadism
+|
+|
 |
 |
@@ Line 127: / Line 178: @@
 |
 |-
+|
+|
 |
 |
@@ Line 138: / Line 191: @@
 * Autoimmune (Hashimoto's) thyroiditis
 * Resistance to [[TSH]]
+|
+|
 |
 |
@@ Line 153: / Line 208: @@
 * Idiopathic isolated TSH deficiency
 * Lymphocytic or granulomatous hypophysitis
+|
+|
 |
 |
@@ Line 163: / Line 220: @@
 * Internal carotid aneurysms
 * Idiopathic isolated TRH deficiency
+|
+|
 |
 |
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |Hypopituitarism
+|
+|
 |
 |
@@ Line 176: / Line 237: @@
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Causes'''}}
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Features'''}}
+|
+|
 | style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|'''Therapy'''}}
 |-
@@ Line 183: / Line 246: @@
 * Monoclonal plasma cell proliferation
 * Cytokine storm (IL-1, IL-6, IL-12, TNF alpha, VEGF)
+|
+|
 |
 |
@@ Line 196: / Line 261: @@
 *[[Hypercalcemia]]
 *[[Anemia]]
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Induction [[chemotherapy]] with [[bortezomib]], [[lenalidomide]], and [[dexamethasone]]
@@ Line 212: / Line 279: @@
 * No evidence of [[bone]] or [[Organ (anatomy)|organ]] damage
 *
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |Observation
 |-
@@ Line 225: / Line 294: @@
 * Greater than 10% [[plasma cells]] in the [[bone marrow]]
 * No evidence of [[bone]] or [[Organ (anatomy)|organ]] damage
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |Observation
 |-
@@ Line 236: / Line 307: @@
 *[[Cytopenias]]
 *No [[bone]] lesions
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |[[Chemotherapy]]
 |-
@@ Line 246: / Line 319: @@
 * Extramedullary [[plasmacytoma]] ([[Soft tissue|soft tissues]])
 * Clinical manifestations related to [[tumor]] mass and compression [[symptoms]]
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |[[Surgery]]
 |-
@@ Line 258: / Line 333: @@
 *Severe decrease in [[bone mineral density|BMD]] on [[Dual energy X-ray absorptiometry|dual-energy X-ray absorptiometry]] ([[DEXA scan|DEXA]]) test
 *T score less than -2.5 on [[DEXA scan|DEXA]] scan
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Calcium]] and [[vitamin D]] supplementation
@@ Line 275: / Line 352: @@
 *Low [[bone mineral density|bone mineral density (BMD)]]
 *[[Hypocalcemia]]
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Vitamin D3]] supplementation
@@ Line 285: / Line 364: @@
 *[[Short stature]], [[scoliosis]], and propensity for [[Bone fracture|fractures]]
 *Blue discoloration of [[sclera]]
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Bisphosphonates]]
@@ Line 303: / Line 384: @@
 *Impaired [[immune]] response
 *Impaired [[wound]] healing
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Vitamin C]] supplementation
@@ Line 315: / Line 398: @@
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Diffuse [[bone]] [[pain]] and [[musculoskeletal]] symptoms
+|
+|
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *High-dose [[vitamin B6]] supplementation