Abstract
Introduction. 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 interestFinancial disclosure: the study had no sponsorship
Highlights
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
The severity of the condition was due to the clinical picture of chronic heart failure
Summary
БТЦ-μ является одним из редчайших вариантов болезни тяжелых цепей, в настоящее время известно около 40 случаев. При БТЦ-μ в центральной части N-концевого участка μ-цепи иммуноглобулина происходит разрыв. Описали 45-летнего больного с симптомами опухолевой интоксикации, анемией, внутрибрюшной лимфаденопатией, спленомегалией, у которого в костном мозге была выявлена лимфоплазмоцитарная инфильтрация, а в сыворотке и моче обнаружена μ-тяжелая цепь [25]. Гистологическая картина биоптата была характерной для диффузной В-крупноклеточной лимфомы, а при иммуногистохимическом исследовании клетки опухоли были позитивны на цитоплазматическую μ-цепь. Когда у больной была диагностирована множественная миелома на основании плазмоклеточной инфильтрации костного мозга и остеолитических очагов в костях черепа, но при иммунохимическом исследовании в сыворотке крови обнаружили δ-тяжелую цепь, не ассоциированную ни с κ-, ни с λ-легкими цепями. Clinical characteristics of different types of heavy chain disease [5]
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have