POEMS syndrome differential diagnosis: Difference between revisions
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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 syndrome|Wolfram syndromes]]. | 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 syndrome|Wolfram syndromes]]. | ||
==Differential | ==Differentiating POEMS Syndrome From Other Diseases== | ||
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 syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref> | The table below summarizes how to differentiate POEMS syndrome from other conditions that have a similar presentation:<ref name="seer">{{Cite web | last = | first = | title = Myeloma - SEER Stat Fact Sheets | url = http://seer.cancer.gov/statfacts/html/mulmy.html | publisher = | date = | accessdate = 17 February 2014 }}</ref><ref name="pmid28934935">{{cite journal| author=Zuo QY, Wang H, Li W, Niu XH, Huang YH, Chen J et al.| title=Treatment and outcomes of tumor-induced osteomalacia associated with phosphaturic mesenchymal tumors: retrospective review of 12 patients. | journal=BMC Musculoskelet Disord | year= 2017 | volume= 18 | issue= 1 | pages= 403 | pmid=28934935 | doi=10.1186/s12891-017-1756-1 | pmc=5609032 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28934935 }} </ref><ref name="pmid26401268">{{cite journal| author=Shaker JL, Albert C, Fritz J, Harris G| title=Recent developments in osteogenesis imperfecta. | journal=F1000Res | year= 2015 | volume= 4 | issue= F1000 Faculty Rev | pages= 681 | pmid=26401268 | doi=10.12688/f1000research.6398.1 | pmc=4566283 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26401268 }} </ref><ref name="pmid29299040">{{cite journal| author=Kumar A, Palfrey HA, Pathak R, Kadowitz PJ, Gettys TW, Murthy SN| title=The metabolism and significance of homocysteine in nutrition and health. | journal=Nutr Metab (Lond) | year= 2017 | volume= 14 | issue= | pages= 78 | pmid=29299040 | doi=10.1186/s12986-017-0233-z | pmc=5741875 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29299040 }} </ref><ref name="pmid29128071">{{cite journal |vauthors=Soh KT, Tario JD, Wallace PK |title=Diagnosis of Plasma Cell Dyscrasias and Monitoring of Minimal Residual Disease by Multiparametric Flow Cytometry |journal=Clin. Lab. Med. |volume=37 |issue=4 |pages=821–853 |date=December 2017 |pmid=29128071 |pmc=5804349 |doi=10.1016/j.cll.2017.08.001 |url=}}</ref><ref name="pmid18971951">{{cite journal |vauthors=Kyle RA, Rajkumar SV |title=Criteria for diagnosis, staging, risk stratification and response assessment of multiple myeloma |journal=Leukemia |volume=23 |issue=1 |pages=3–9 |date=January 2009 |pmid=18971951 |pmc=2627786 |doi=10.1038/leu.2008.291 |url=}}</ref><ref name="pmid25838344">{{cite journal |vauthors=Rajkumar SV, Landgren O, Mateos MV |title=Smoldering multiple myeloma |journal=Blood |volume=125 |issue=20 |pages=3069–75 |date=May 2015 |pmid=25838344 |pmc=4432003 |doi=10.1182/blood-2014-09-568899 |url=}}</ref> | ||
{| | |||
! 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;" | {{fontcolor|#FFF|Therapy}} | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Multiple myeloma]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Chromosomal aberration|Chromosomal aberrations]] or other [[Genetics|genetic]] insults | |||
*[[Malignant]] transformation of [[plasma cells]] | |||
*Clonal [[plasma cell]] proliferation | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Diffuse [[bone]] pain and [[tenderness]] with [[osteolytic]] lesions | |||
*[[Renal failure]] | |||
*[[Hypercalcemia]] | |||
*[[Anemia]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Induction [[chemotherapy]] with [[bortezomib]], [[lenalidomide]], and [[dexamethasone]] | |||
*[[Bisphosphonates]] | |||
*[[RANKL|RANK ligand]] inhibitors ([[denosumab]]) | |||
*[[Autologous bone marrow transplantation|Autologous stem cell transplantation]] | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Monoclonal gammopathy of undetermined significance]] ([[MGUS]])''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Chromosomal aberration|Chromosomal aberrations]] or other [[Genetics|genetic]] insults | |||
*Clonal [[plasma cell]] proliferation | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* [[Asymptomatic]] | |||
* [[Serum]] [[M protein]] of <30 g/L | |||
* Fewer than 10% [[plasma cells]] in the [[bone marrow]] | |||
* No evidence of [[bone]] or [[Organ (anatomy)|organ]] damage | |||
* | |||
| style="padding: 5px 5px; background: #F5F5F5;" |Observation | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''Asymptomatic Plasma Cell Myeloma''' | |||
('''Smoldering''' and '''Indolent plasma cell myeloma''') | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Chromosomal aberration|Chromosomal aberrations]] or other [[Genetics|genetic]] insults | |||
*[[Malignant]] transformation of [[plasma cells]] | |||
*Clonal [[plasma cell]] proliferation | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* [[Asymptomatic]] | |||
* [[Serum]] [[M protein]] of >30 g/L | |||
* 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 | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Plasma cell leukemia|Plasma Cell Leukemia]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* [[Chromosomal aberration|Chromosomal aberrations]] or other [[Genetics|genetic]] insults | |||
* [[Malignant]] transformation of [[plasma cells]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Renal failure]] | |||
*[[Hypercalcemia]] | |||
*[[Cytopenias]] | |||
*No [[bone]] lesions | |||
| style="padding: 5px 5px; background: #F5F5F5;" |[[Chemotherapy]] | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Plasmacytoma]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Chromosomal aberration|Chromosomal aberrations]] or other [[Genetics|genetic]] insults | |||
*[[Malignant]] transformation of [[plasma cells]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* Solitary bone [[plasmacytoma]] ([[bone]]) | |||
* Extramedullary [[plasmacytoma]] ([[Soft tissue|soft tissues]]) | |||
* Clinical manifestations related to [[tumor]] mass and compression [[symptoms]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" |[[Surgery]] | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Osteoporosis]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Imbalance between [[bone resorption]] and [[bone]] formation | |||
*Preceded by [[osteopenia]] | |||
*Decreased bone mineral density | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Acute musculoskletal pain if [[bone fractures|fractures]] develop | |||
*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 | |||
*[[Bisphosphonate|Bisphosphonates]] | |||
*Weight-bearing exercise | |||
*[[Teriparatide]] | |||
*[[RANKL|RANK ligand]] inhibitors ([[denosumab]]) | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Osteomalacia]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Inadequate [[mineralization of bone]] | |||
*Deficiency of [[vitamin D]] [[calcium]], or [[phosphorus]] | |||
*[[Renal tubular acidosis]] | |||
*[[Malabsorption]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Diffuse [[bone]] pain, fatigue, and [[fractures]] | |||
*Low [[bone mineral density|bone mineral density (BMD)]] | |||
*[[Hypocalcemia]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Vitamin D3]] supplementation | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Scurvy]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Vitamin C]] deficiency | |||
*[[Malabsorption]] | |||
*[[Hemodialysis]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Gum disease]] such as gum [[bleeding]] | |||
*Loose [[teeth]] | |||
*Easy [[bruising]] | |||
*Impaired [[immune]] response | |||
*Impaired [[wound]] healing | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Vitamin C]] supplementation | |||
*Citrus fruits | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Osteogenesis imperfecta]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Mutations]] in ''[[COL1A1]]'' or ''[[COL1A2]]'' | |||
*Impaired [[Type I collagen|type I collagen synthesis]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Short stature]], [[scoliosis]], and propensity for [[Bone fracture|fractures]] | |||
*Blue discoloration of [[sclera]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Bisphosphonates]] | |||
*[[Physical therapy]] | |||
*Surgical fixation of brittle [[bones]] | |||
*Genetic counseling for offspring | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |'''[[Homocystinuria]]''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Deficiency of [[Cystathionine-beta-synthase|cystathionine ''beta'' synthase]] | |||
*Deficiency of [[folate]], [[vitamin B12]], or [[vitamin B6]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*Diffuse [[bone]] [[pain]] and [[musculoskeletal]] symptoms | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*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 syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref> | |||
{| class="wikitable" | {| class="wikitable" | ||
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! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other disorders present | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other disorders present | ||
|- | |- | ||
| | |POEMS syndrome | ||
|<nowiki>+</nowiki> | |<nowiki>+</nowiki> | ||
|Less common | |Less common |
Revision as of 18:11, 6 February 2019
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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]
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.