クロウ・深瀬症候群

INTRODUCTION: Autoimmune cytopenias have been very rarely reported in conjunction with POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes syndrome). To the best of our knowledge, there is no reported case in the existing literature of an association of Evans syndrome with POEMS syndrome. CASE DESCRIPTION: A 55-year-old female patient, with a medical history of well-controlled dermatomyositis, developed fulminant autoimmune haemolytic anaemia with immune thrombocytopenic purpura, thus fulfilling the diagnosis of Evans syndrome. To control the disease, acute management required supportive measures in the intensive care unit, repeated transfusions of red blood cells and platelets, high- dose intravenous corticosteroids, a bolus of cyclophosphamide, and splenectomy. Three days post-splenectomy, the patient developed, subacutely, full-blown POEMS syndrome. Therefore, the diagnosis of coexisting secondary Evans syndrome and POEMS syndrome was made. Notably, the monoclonal kappa light chain restriction and multiple splenic infarctions were distinctive features in our patient. Due to procurement issues of lenalidomide, we opted for monthly parenteral cyclophosphamide and autologous stem cell transplantation was programmed. CONCLUSION: This case highlights that severe secondary Evans syndrome can coexist with POEMS syndrome, leading to challenges in diagnosis and management. LEARNING POINTS: Severe secondary Evans syndrome can coexist with POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome.High doses of corticosteroids required for the acute management of Evans syndrome may artificially lower the genuine value of serum vascular endothelial growth factor in the context of associated POEMS syndrome.In atypical circumstances like in our case (associated Evans syndrome, kappa light chain restriction), the nerve biopsy is critical to exclude differential diagnoses and confirm typical characteristics of POEMS syndrome- related polyneuropathy.

OBJECTIVES: In polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome, when monoclonal plasma cell proliferation is absent, it is considered 'non-secretory POEMS syndrome'. We aimed to study whether M-protein was detectable by mass spectrometry (MS) in previously non-secretory POEMS syndrome. METHODS: M-protein was analyzed using intact mass spectrometry-immunoprecipitation (iMS-IP) and iMS-FLC Assays on the baseline serum samples of patients with 'previously non-secretory POEMS' syndrome (n=21) and from patients undergoing treatment follow-up (n=17). RESULTS: Out of 21 previously non-secretory POEMS patients, 20 (95 %) had M-protein by MS at presentation. The types of M-protein in previously non-secretory POEMS patients were: IgA λ (35 %), free λ (25 %), IgD λ (20 %), IgG λ (15 %), and biclonal (IgA λ and IgM λ) (5 %). During treatment follow-up, the overall response rate of serum vascular endothelial growth factor (VEGF) was 100 %, and the median time to VEGF response was 3 months. In contrast, during and after treatment, only 6 out of 16 patients (37 %) achieved M-protein negativity by MS (median time of 9 months). CONCLUSIONS: MS-assisted M-protein detection could achieve accurate diagnosis for many patients with 'previously non-secretory POEMS', and may prove useful for tracking treatment outcomes in individuals with MS-positive baseline M-protein.

DISEASE OVERVIEW: POEMS syndrome is a life-threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. DIAGNOSIS: The diagnosis of POEMS syndrome is made with three of the major criteria, two of which must include polyneuropathy and clonal plasma cell disorder, and at least one of the minor criteria. RISK STRATIFICATION: Because the pathogenesis of the syndrome is not well understood, risk stratification is limited to clinical phenotype rather than specific molecular markers. Risk factors include low serum albumin, age, pleural effusion, pulmonary hypertension, and reduced eGFR. RISK-ADAPTED THERAPY: For those patients with a dominant plasmacytoma, first line therapy is irradiation. Patients with diffuse sclerotic lesions or disseminated bone marrow involvement should receive systemic therapy. Corticosteroids are temporizing, but alkylators and lenalidomide are the mainstays of treatment, the former either in the form of low dose conventional therapy or as high-dose conditioning for stem cell transplantation. Thalidomide and bortezomib also have activity, but their benefit needs to be weighed against their risk of exacerbating the peripheral neuropathy. Daratumumab combinations also appear promising based on case series. Prompt recognition and institution of both supportive care measures and therapy directed against the plasma cell result in the best outcomes.

POEMS syndrome is a rare multisystem disorder caused by a monoclonal plasma cell neoplasm, characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. Due to its overlapping features with other neuropathies, diagnosis is often delayed, impacting prognosis. We report a 37-year-old male presenting with progressive limb weakness, inguinal lymphadenopathy, and spinal nerve root enhancement. Imaging revealed mixed lytic-sclerotic bony lesions, lymphadenopathies, hepatosplenomegaly, and spinal nerve root thickening and enhancement, which raised early suspicion for an underlying plasma cell dyscrasia rather than an isolated inflammatory neuropathy. Electrodiagnostic studies showed subacute demyelinating polyradiculoneuropathy with axonal degeneration, and laboratory findings included hypoalbuminemia, anemia, and thrombocytosis. A biopsy from the lymphadenopathy confirmed mixed plasma cell and hyaline vascular type Castleman disease, establishing POEMS syndrome in the context of a systemic plasma cell disorder. This case highlights how characteristic combinations of nerve root enhancement and mixed lytic-sclerotic bone lesions on MRI and CT can contribute uniquely to early diagnosis and differentiation from mimics such as chronic inflammatory demyelinating polyradiculoneuropathy or leptomeningeal disease, enabling prompt initiation of clone-directed therapy. Increased awareness of these imaging patterns among clinicians is critical for timely diagnosis and management.

Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes (POEMS) syndrome is a rare paraneoplastic disorder associated with plasma cell dyscrasia and multisystem involvement. This report describes a case of splanchnic venous thrombosis presenting as the initial clinical manifestation. A 38-year-old woman presented with acute abdominal pain associated with progressive polyneuropathy. Imaging studies revealed extensive thrombosis of the superior mesenteric vein with extension into the portal vein, moderate ascites, hepatosplenomegaly, and diffuse osteosclerotic bone lesions. Laboratory investigations demonstrated an immunoglobulin A (IgA) lambda monoclonal gammopathy. Positron emission tomography-computed tomography showed widespread hypermetabolic osteosclerotic lesions, hypermetabolic axillary lymphadenopathy, and increased cardiac uptake. Transthoracic echocardiography revealed right ventricular dilation with an intermediate probability of pulmonary hypertension. The overall clinical, radiological, and laboratory findings were consistent with disseminated POEMS syndrome. This case illustrates a rare initial presentation of POEMS syndrome manifesting as splanchnic venous thrombosis. It emphasizes the importance of considering POEMS syndrome in patients with unexplained portal hypertension or atypical venous thrombosis in the presence of systemic manifestations.