syndromes associated with plasma cell disorders
N.B. Not a comprehensive list and unlikely to feature in FRCPath as several are vanishingly rare. Myeloma, plasmacytomas and MGUS of course have their own pages.
POEMS
(Rare, est. 0.3/100,000)
Synonyms
Osteosclerotic myeloma, Takatsuki Syndrome, Cro-Fukase Syndrome
Cause
Uncertain, but elevated VEGF (Vascular endothelial growth factor) usually present
Almost always lambda light chain restricted plasma cells
Presentation
Adult onset
Multisytem, paraneoplastic disorder, POEMS:
Polyneuropathy (sensorimotor, peripheral)
Organomegaly (liver/spleen/lymph nodes)
Endocrinopathy (any)
Monoclonal plasma cell disorder
Skin changes (particularly hyperpigmentation, skin thickening, hypertrichosis)
Although not in acronym, the followin are important additional features:
Fluid overload
Optic nerve oedema
Osteosclerotic bone lesions
Thrombocytosis
Thrombosis
May also be associated with Castleman disease
Diagnosis
Does not require all of the above
How I treat suggests demyelinating neuropathy plus any of thrombocytosis, oedema, papilloedema is most suspicious of a diagnosis of POEMS
Lambda light chain usually elevated (but with a normal K:L ratio in up to 80%!)
Treatment
Address individual complications
Anti-myeloma therapy (systemic or radiotherapy to osteosclerotic lesions)
Symptoms may improve despite minimal change in light chains
References
How I treat 2012, Rare Diseases Database
TEMPI
(<30 ppl worldwide in 2019)
Presentation
Adult onset
TEMPI
Telangectasia (face, trunk and arms)
Erythrocytosis w/ Elevated erythropoietin (JAK2 negative)
Monoclonal gammopathy (<10% PC in BM)
Perinephric fluid collections
Intrapulmonary shunting (—> progressive hypoxia)
Other reported features include intracranial haemorrhage, facial erythema, thrombosis
Treatment
Case reports of rapid, complete responses to bortezomib-based therapy
References
Blood 2020, GARD website, NEJM First case series 2011
AESOP
(only 18 reported cases in 2021)
AESOP - Adenopathy and extensive skin path overlying a plasmacytoma
Red-Brown violaceous skin occuring as the presenting feature at the site overlying a plasmacytoma
Presentation also associated with lymphadenopathy and wide-ranging polyneuropathies
Can be considered as an early presentation of POEMS
Treated as per plasmacytomas
References
J Clin Aesthet Dermatol 2012, Clinics in Dermatology 2021
schnitzler Syndrome
(160 reported cases)
IgM paraprotein with a chronic red rash similar to urticaria
Associated symptoms include recurrent episodes of lymphadenopathy, fever, arthritis, bone pain
Poorly defined but probably a paraneoplastic autoinflammatory condition
Treatment - symptomatic, immune suppression, IL-1 inhib and surveillance for subsequent Waldenstroms
References
NORD website, Blood 2018, J Haem 2021
CANOMAD
(largest case series is 45 patients)
Adult onset
CANOMAD
Chronic Ataxic Neuropathy
Ophthalmoplegia
IgM paraprotein
Cold Agglutinins
Anti-Disialosyl antibodies
Treatment
IVIg and rituximab have reported 50% response rates
Poor response to steroids
Surveillance for Waldenstroms
References