# Dercum’s Disease: Bridging Present Understanding and Emerging Directions

**Authors:** Francesca Gorini, Alessio Coi, Alice Verdelli, Elisabetta Magnaterra, Manfredi Magliulo, Luca Sanna, Virginia Corti, Simone Landini, Marta Donati, Irene Bonanni, Rachel Daher, Alberto Corrà, Cinzia Pupilli, Elena Biancamaria Mariotti, Valentina Ruffo di Calabria, Alessandro Magnatta, Marzia Caproni

PMC · DOI: 10.3390/life16020290 · 2026-02-08

## TL;DR

Dercum’s Disease is a rare painful condition affecting fat tissue, mostly in middle-aged women, with unclear causes and treatment focused on pain relief.

## Contribution

This review offers an updated summary of DD, emphasizing recent pharmacological treatment advances.

## Key findings

- DD is marked by chronic pain in adipose tissue and subcutaneous nodules, mainly in overweight women.
- Diagnosis relies on clinical evaluation due to overlapping symptoms with other conditions.
- Current treatments focus on pain relief, highlighting gaps in understanding DD’s underlying causes.

## Abstract

Dercum’s disease (DD) is a rare condition characterized by intense, asymmetrical, chronic burning pain localized in adipose tissue, often accompanied by subcutaneous fat nodules, leading to a significant reduction in quality of life. It typically affects overweight or obese adults between 35 and 50 years of age, with a marked female predominance. Despite numerous hypotheses proposed over time, the pathophysiology of DD remains poorly understood. Diagnosis is particularly challenging, as it relies solely on clinical evaluation. Given the overlapping features with other conditions, including symptoms, clinical course and inheritance pattern, a differential, accurate, and timely diagnosis is essential for the effective management of DD. Current treatment strategies focus primarily on pain relief, reflecting the still uncomplete understanding of DD etiopathogenesis. This review provides an updated overview of the current knowledge on DD, with particular emphasis on recent advances in pharmacological treatment strategies.

## Linked entities

- **Diseases:** Dercum’s disease (MONDO:0007070)

## Full-text entities

- **Genes:** VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422] {aka L-VEGF, MVCD1, VEGF, VPF}, GIP (gastric inhibitory polypeptide) [NCBI Gene 2695], HMGA2 (high mobility group AT-hook 2) [NCBI Gene 8091] {aka BABL, HMGI-C, HMGIC, LIPO, SRS5, STQTL9}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, CXCL8 (C-X-C motif chemokine ligand 8) [NCBI Gene 3576] {aka GCP-1, GCP1, IL8, LECT, LUCT, LYNAP}, GCG (glucagon) [NCBI Gene 2641] {aka GLP-1, GLP1, GLP2, GRPP}, IL1B (interleukin 1 beta) [NCBI Gene 3553] {aka IL-1, IL1-BETA, IL1F2, IL1beta}, GLP1R (glucagon like peptide 1 receptor) [NCBI Gene 2740] {aka GLP-1, GLP-1-R, GLP-1R}, PLA2G7 (phospholipase A2 group VII) [NCBI Gene 7941] {aka LDL-PLA2, LP-PLA2, PAFAD, PAFAH}, SLC6A4 (solute carrier family 6 member 4) [NCBI Gene 6532] {aka 5-HTT, 5-HTTLPR, 5HTT, HTT, OCD1, SERT}, INS (insulin) [NCBI Gene 3630] {aka IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10}, MDM2 (MDM2 proto-oncogene) [NCBI Gene 4193] {aka ACTFS, HDMX, LSKB, hdm2}, IGHE (immunoglobulin heavy constant epsilon) [NCBI Gene 3497] {aka IgE}, IL10 (interleukin 10) [NCBI Gene 3586] {aka CSIF, GVHDS, IL-10, IL10A, TGIF}, TNF (tumor necrosis factor) [NCBI Gene 7124] {aka DIF, IMD127, TNF-alpha, TNFA, TNFSF2, TNLG1F}, MAPK14 (mitogen-activated protein kinase 14) [NCBI Gene 1432] {aka CSBP, CSBP1, CSBP2, CSPB1, EXIP, Mxi2}, LEP (leptin) [NCBI Gene 3952] {aka LEPD, OB, OBS}, CCL7 (C-C motif chemokine ligand 7) [NCBI Gene 6354] {aka FIC, MARC, MCP-3, MCP3, NC28, SCYA6}, MEN1 (menin 1) [NCBI Gene 4221] {aka MEAI, SCG2}, POMC (proopiomelanocortin) [NCBI Gene 5443] {aka ACTH, CLIP, LPH, MSH, NPP, OBAIRH}, LIPE (lipase E, hormone sensitive type) [NCBI Gene 3991] {aka AOMS4, FPLD6, HSL, LHS, REH}, HIF1A (hypoxia inducible factor 1 subunit alpha) [NCBI Gene 3091] {aka HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1}, IL13 (interleukin 13) [NCBI Gene 3596] {aka IL-13, P600}, CCL23 (C-C motif chemokine ligand 23) [NCBI Gene 6368] {aka CK-BETA-8, CKb8, Ckb-8, Ckb-8-1, MIP-3, MIP3}, CX3CL1 (C-X3-C motif chemokine ligand 1) [NCBI Gene 6376] {aka ABCD-3, C3Xkine, CXC3, CXC3C, NTN, NTT}, SCD (stearoyl-CoA desaturase) [NCBI Gene 6319] {aka FADS5, MSTP008, SCD1, SCDOS, hSCD1}, MFN2 (mitofusin 2) [NCBI Gene 9927] {aka CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A}, PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) [NCBI Gene 5295] {aka AGM7, GRB1, IMD36, p85, p85-ALPHA, p85alpha}, KNG1 (kininogen 1) [NCBI Gene 3827] {aka BDK, BK, HAE6, HK, HMWK, KNG}, CRP (C-reactive protein) [NCBI Gene 1401] {aka PTX1}, IL6 (interleukin 6) [NCBI Gene 3569] {aka BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2}
- **Diseases:** fatty masses (MESH:C536030), histoplasmosis (MESH:D006660), Hashimoto's disease (MESH:D050031), anxiety disorder (MESH:D001008), hypoxia (MESH:D000860), congenital lymphatic insufficiency (MESH:C566130), genetic abnormalities (MESH:D030342), chronic fatigue syndrome (MESH:D015673), metabolic (MESH:D008659), metabolic dysregulation (MESH:D021081), primary hyperparathyroidism (MESH:D049950), abnormal fat (MESH:D004620), post-traumatic stress disorder (MESH:D013313), Lipedema (MESH:D065134), CS (MESH:D003480), fever (MESH:D005334), fatigue (MESH:D005221), venous leg ulcers (MESH:D014647), DD (MESH:D000274), overweight (MESH:D050177), Weight gain (MESH:D015430), mood disorders (MESH:D019964), tachycardia (MESH:D013610), obese (MESH:D009765), bleeding (MESH:D006470), musculoskeletal pain (MESH:D059352), autoimmune diseases (MESH:D001327), cutaneous lesions (MESH:D009059), abdominal pain (MESH:D015746), Encapsulated lipomas (MESH:D056627), Launois-Bensaude lipomatosis (MESH:D008069), anxiety (MESH:D001007), schizophrenia (MESH:D012559), neuroinflammation (MESH:D000090862), edema (MESH:D004487), borreliosis (MESH:D008193), fatty lesions (MESH:D065626), shortness of breath (MESH:D004417), lung cancer (MESH:D008175), neural dysfunction (MESH:D015441), insomnia (MESH:D007319), Psychiatric disorders (MESH:D001523), lymphatic abnormalities (MESH:D044148), adrenocorticotropic hormone secreting pituitary tumors (MESH:D010911), myofascial pain syndrome (MESH:D009209), Tumors (MESH:D009369), lymphedema (MESH:D008209), weakness (MESH:D018908), diabetes (MESH:D003920), rare hereditary syndrome (MESH:D009386), dyslipidemia (MESH:D050171), ALT (MESH:D008080), CCS (MESH:C565152), influenza (MESH:D007251), impaired physical functioning (MESH:D059445), Painful (MESH:D010146), sleep disorders (MESH:D012893), pancreatic tumors (MESH:D010190), borderline personality disorder (MESH:D001883), Lipomas (MESH:D008067)
- **Chemicals:** vaccenic acid (MESH:C050413), IFX (MESH:D000069285), free fatty acids (MESH:D005230), prostaglandin E2 (MESH:D015232), water (MESH:D014867), MTX (MESH:D008727), methylprednisolone (MESH:D008775), metformin (MESH:D008687), prostaglandins (MESH:D011453), sugars (MESH:D000073893), stearate (MESH:D013228), paracetamol (MESH:D000082), Adenosine (MESH:D000241), DCA (MESH:D003840), histamine (MESH:D006632), serotonin (MESH:D012701), glucose (MESH:D005947), ROS (MESH:D017382), Calcium (MESH:D002118), d-amphetamine (MESH:D003913), oleate (MESH:D019301), ATC (MESH:C003438), alcohol (MESH:D000438), lipid (MESH:D008055), palmitic acid (MESH:D019308), endocannabinoid (MESH:D063388), fatty acid (MESH:D005227), 5-aminoimidazole-4-carboxamide ribonucleotide (MESH:C031143), mexiletine (MESH:D008801), amino acids (MESH:D000596), sodium (MESH:D012964), JP-8 (-), prednisolone (MESH:D011239), bile acid (MESH:D001647), Pregabalin (MESH:D000069583), palmitate (MESH:D010168), palmitoleate (MESH:C008757), lidocaine (MESH:D008012)
- **Species:** Mus musculus (house mouse, species) [taxon 10090], Homo sapiens (human, species) [taxon 9606]
- **Mutations:** 8344A>G, 8344A to G

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12941686/full.md

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Source: https://tomesphere.com/paper/PMC12941686