Open Accessμ-Heavy chain disease associated with systemic amyloidosis and non-amyloid deposits. Diffi culties in diagnosis and therapy
Author(s) -
Valeria K. Okhota,
В В Рыжко,
А М Ковригина,
И. А. Шуплецова,
Н П Соболева,
Е О Грибанова
Publication year - 2020
Publication title -
gematologiâ i transfuziologiâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.126
H-Index - 5
eISSN - 2411-3042
pISSN - 0234-5730
DOI - 10.35754/0234-5730-2020-65-2-190-207
Subject(s) - amyloidosis , medicine , transthyretin , al amyloidosis , rituximab , amyloid (mycology) , bendamustine , pathology , disease , lymphoplasmacytic lymphoma , primary systemic amyloidosis , immunoglobulin light chain , waldenstrom macroglobulinemia , systemic disease , immunology , lymphoma , antibody
. Heavy-chain diseases (HCDs) are rare B-cell lymphoproliferative diseases that do not have a classical clinical picture. A characteristic feature of this disease is the secretion of fragmented heavy chains of various immunoglobulin isotypes. Currently, there are four known variants of this disease: μ, γ, α, and δ. Aim . To describe the clinical observation of μ-HCD, hidden under the mask of systemic amyloidosis, and the associated diffi culties of primary diagnosis. Main Findings . A rare clinical case of μ-HCD in combination with systemic amyloidosis (light chain amyloidosis-AL), transthyretin amyloidosis (transthyretin amyloidosis-ATTR), and non-amyloid deposits in a 64-year-old patient is presented. The severity of the condition was due to the clinical picture of chronic heart failure, polyneuropathy. Upon examination, Waldenstrom’s macroglobulinemia was diagnosed while a diagnosis of amyloidosis was not established. Immuno-chemotherapy was performed under the RB program (rituximab and bendamustine). The effect of the therapy was minimal and short-term. The patient’s condition progressively worsened, and the patient died due to acute cardiovascular failure. The main diagnosis was revised in favor of μ-HCD. The autopsy revealed widespread amyloid and non-amyloid lesions of organs and tissues. Conflict of interest: the authors declare no conflict of interest Financial disclosure: the study had no sponsorship