Gamma-1-Schwerkettenkrankheit mit Immunvaskulitis und rheumatoider Arthritis

Abstract

We are reporting about a case of gamma heavy-chain disease (Franklin's disease) with immunovasculitis and rheumatoid arthritis. The diagnosis was confirmed by the results of immunoelectrophoresis of the patient's serum and also by evidence of stimulated lymphocytes without light chain, but having gamma heavy-chain surface proteins. The immunofixation of the serum showed two protein bands of gamma heavy-chains with different loads. These results are confirmed by a two dimensional electrophoresis and isoelectric focussing of the serum proteins. The pathologic protein consists of at least two different heavy-chain proteins (mol wt 40,000 and 80,000) with isoelectric points between pH 5.5 and 7.3. In the urine of the patient pathological gamma heavy chain-protein was found only in a very low concentration. The predominant clinical symptom of the patient was a necrotizing vasculitis which became a therapeutical problem. In the immunofluorescence examination of the skin biopsy specimens, immunoglobulins and C3-complement could be detected in the stratum papillare. This fact would be compatible with the development of antibodies or immune complexes against deposited heavy-chain proteins. The arthropathy and the positive rheumatoid factor could similarly be explained by an immune complex mechanism.

Gamma heavy chain disease (γ-HCD) as iatrogenic immunodeficiency- associated lymphoproliferative disorder: Possible emergent subtype of rheumatoid arthritis-associated γ-HCD

“…To the best of our knowledge, 15 γ-HCD patients with RA as an underlying disease have been reported. 3,[6][7][8]10,11,[13][14][15][16][17][18][19][20] Two γ-HCD patients were treated using MTX and corticosteroid 10 or MTX alone 11 for RA before the onset of LPD, and were later found to have γ-HCD; therefore, γ-HCD in these 2 patients is considered to be iatrogenic immunodeficiency-associated LPD, because this LPD subtype is tentatively defined as that arising in patients with autoimmune diseases with a history of treatment with immunosuppressive agents such as MTX, 9 although the causative mechanism of MTX for the development of LPD has not been elucidated. One more γ-HCD patient had been treated using MTX for seronegative RA; however, the patient did not have constitutive symptoms, lymph node swelling, hepatosplenomegaly, tumoral lesions, or bone marrow abnormality at the time of γ-HCD diagnosis.…”

“…Therefore, γ-HCD in this patient lacked the clinical features of LPD and the diagnosis of iatrogenic immunodeficiency-associated LPD was unlikely. In the remaining 12 γ-HCD patients with RA, MTX or immunosuppressants were not used for RA treatment, 3,[6][7][8][13][14][15][16][17][18][19] although the treatment agent was not described for one patient. 7 Therefore, the present case may be the third reported case of γ-HCD as iatrogenic immunodeficiency-associated LPD.…”