POEMS syndrome

Summary

POEMS syndrome (MONDO:0017364) is a disease and 13 clinical trials. Top therapeutic interventions include dexamethasone and ixazomib citrate. A subtype of leukocyte disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Japan) [Orphanet-validated]
• Phenotypes (HPO): 51
• Clinical trials: 13

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.33	Japan	Validated

Signs & symptoms

Clinical features (HPO)

51 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0001271	Polyneuropathy	Obligate (100%)
HP:0000135	Hypogonadism	Very frequent (80-99%)
HP:0000818	Abnormality of the endocrine system	Very frequent (80-99%)
HP:0003271	Visceromegaly	Very frequent (80-99%)
HP:0005523	Lymphoproliferative disorder	Very frequent (80-99%)
HP:0010702	Increased circulating antibody level	Very frequent (80-99%)
HP:0011122	Abnormality of skin physiology	Very frequent (80-99%)
HP:0000771	Gynecomastia	Frequent (30-79%)
HP:0000819	Diabetes mellitus	Frequent (30-79%)
HP:0000821	Hypothyroidism	Frequent (30-79%)
HP:0000953	Hyperpigmentation of the skin	Frequent (30-79%)
HP:0000969	Edema	Frequent (30-79%)
HP:0000998	Hypertrichosis	Frequent (30-79%)
HP:0001028	Hemangioma	Frequent (30-79%)
HP:0001072	Thickened skin	Frequent (30-79%)
HP:0001085	Papilledema	Frequent (30-79%)
HP:0001284	Areflexia	Frequent (30-79%)
HP:0001324	Muscle weakness	Frequent (30-79%)
HP:0001541	Ascites	Frequent (30-79%)
HP:0001698	Pericardial effusion	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0001820	Leukonychia	Frequent (30-79%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0001894	Thrombocytosis	Frequent (30-79%)
HP:0002092	Pulmonary arterial hypertension	Frequent (30-79%)
HP:0002202	Pleural effusion	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0002694	Sclerosis of skull base	Frequent (30-79%)
HP:0002716	Lymphadenopathy	Frequent (30-79%)
HP:0003401	Paresthesia	Frequent (30-79%)
HP:0004054	Sclerosis of hand bone	Frequent (30-79%)
HP:0004576	Sclerotic vertebral endplates	Frequent (30-79%)
HP:0004979	Metaphyseal sclerosis	Frequent (30-79%)
HP:0008207	Primary adrenal insufficiency	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0012531	Pain	Frequent (30-79%)
HP:0031052	Elevated vascular endothelial growth factor level	Frequent (30-79%)
HP:0100639	Erectile dysfunction	Frequent (30-79%)
HP:0100759	Clubbing of fingers	Frequent (30-79%)
HP:0100925	Sclerosis of foot bone	Frequent (30-79%)
HP:0000870	Increased circulating prolactin concentration	Occasional (5-29%)
HP:0001050	Plethora	Occasional (5-29%)
HP:0001063	Acrocyanosis	Occasional (5-29%)
HP:0001901	Polycythemia	Occasional (5-29%)
HP:0002091	Restrictive ventilatory defect	Occasional (5-29%)
HP:0002747	Respiratory insufficiency due to muscle weakness	Occasional (5-29%)
HP:0004420	Arterial thrombosis	Occasional (5-29%)
HP:0004936	Venous thrombosis	Occasional (5-29%)
HP:0009125	Lipodystrophy	Occasional (5-29%)
HP:0031357	Glomeruloid hemangioma	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	POEMS syndrome
Mondo ID	MONDO:0017364
EFO	EFO:1001115
MeSH	D016878
Orphanet	2905
DOID	DOID:14039
ICD-11	1555299114
NCIT	C80303
SNOMED CT	79268002
UMLS	C0085404
MedGen	39276
GARD	0007411
MedDRA	10053869
NORD	1586
Is cancer (heuristic)	no

Also known as: Crow-Fukase syndrome · osteosclerotic myeloma · PEP syndrome · POEMS syndrome · polyneuropathy organomegaly · polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome · polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome · Takatsuki syndrome

Data availability: 12 cell lines.

Disease family

This is a subtype of leukocyte disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › leukocyte disorder › POEMS syndrome

Related subtypes (22): human monocytic ehrlichiosis, B cell deficiency, leukopenia, B-cell neoplasm, dendritic cell sarcoma, human granulocytic anaplasmosis, T-cell leukemia, phagocyte bactericidal dysfunction, EBV-positive T-cell lymphoproliferative disorder of childhood, small intestinal enteropathy-associated T-cell lymphoma, pituitary gland basophil adenoma, leukostasis, mastocytosis, hereditary neutrophilia, Pelger-Huet anomaly, functional neutrophil defect, thymoma type B, Langerhans cell histiocytosis, subcutaneous panniculitis-like T-cell lymphoma, eosinophil peroxidase deficiency, eosinophil disorder, mast cell activation syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Daratumumab, Dexamethasone, Lenalidomide.

Clinical trials & evidence

Clinical trials

Clinical trials: 13.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	6
EARLY_PHASE1	3
Not specified	3
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07115654	PHASE2	NOT_YET_RECRUITING	BCMA/CD3 BsAb Therapy for POEMS Syndrome
NCT00971685	PHASE2	UNKNOWN	The Treatment of Lenalidomide in Patients With POEMS Syndrome
NCT01639898	PHASE2	COMPLETED	POEMS Syndrome Treatment With Lenalidomide
NCT01816620	PHASE2	COMPLETED	Study to Evaluate Lenalidomide Plus Dexamethasone in Patients With Newly Diagnosed POEMS Syndrome
NCT02193698	PHASE2	COMPLETED	Efficacy and Safety of Lenalidomide as a Treatment for Recurrent or Refractory POEMS Syndrome Trial
NCT04396496	PHASE2	COMPLETED	Treatment of POEMS Syndrome With Daratumumab
NCT06518876	PHASE1	NOT_YET_RECRUITING	A Study of KQ-2003 CAR-T Cell Therapy for Patients With Relapsed or Refractory POEMS Syndrome
NCT04561557	EARLY_PHASE1	RECRUITING	Safety and Efficacy of CT103A Cells for Relapsed/Refractory Antibody-associated Inflammatory Diseases of the Nervous System
NCT02921893	EARLY_PHASE1	COMPLETED	Ixazomib Citrate, Lenalidomide, and Dexamethasone in Treating Patients With POEMS Syndrome
NCT05263817	EARLY_PHASE1	UNKNOWN	A Clinical Study of CD19/BCMA CAR-T Cells in the Treatment of Refractory POEMS Syndrome, Amyloidosis, Autoimmune Hemolytic Anemia, and Vasculitis
NCT06040567	Not specified	RECRUITING	Polyneuropathy, Impairments and Physical Activity - The PolyImPAct Study
NCT07448935	Not specified	RECRUITING	One Gene, Two Diseases: the Pathologic Role of IGLV1-44 in AL Amyloidosis and POEMS
NCT05476458	Not specified	UNKNOWN	To Evaluate Efficacy of Red Dichromatic Imaging (RDI) in Achieving Hemostasis During POEM Using GF 1500 UGI Scope

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEXAMETHASONE	4	5
IXAZOMIB CITRATE	4	1
CHEMBL1813256	0	1