melphalan and Macroglossia

Amyloidosis is a rare and variable disease, characterized by extracellular deposits of amyloid protein in different tissues and organs. Patients may present with a range of symptoms, depending on the extent of involvement. Rapid, accurate diagnosis is still challenging in clinical practice.. A 72-y-old woman presented with a 1-y history of droopy upper left eyelid, resulting in decreased visual acuity, and progressive tongue swelling, resulting in dysarthria, dysphagia, and sleep apnea. Physical examination revealed puffy eyes, moderate swelling up to 1 cm of the upper left eyelid, swollen submental region, and protrusion of the tongue, causing an inability to close the mouth. An abnormal serum free light chain ratio implied the presence of monoclonal gammopathies, and Congo red staining revealed amyloid deposits in specimens from both the tongue and left eyelid. Therefore, a diagnosis of systemic light-chain (AL) amyloidosis was confirmed. The patient then received oral melphalan therapy and surgical intervention for macroglossia. Clinical symptoms including dysarthria, dysphagia, and sleep apnea were under control at 6-month follow-up.. We report an uncommon case presenting initially with both ptosis and macroglossia, for which a final diagnosis of systemic AL amyloidosis was made. Detailed history and laboratory investigation must be implemented on suspicion of amyloidosis, because early recognition of amyloid-associated diseases and appropriate treatment can improve clinical outcomes.

Topics: Aged; Antineoplastic Agents, Alkylating; Blepharoptosis; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Macroglossia; Melphalan

Topics: Amyloidosis; Bortezomib; Female; Humans; Immunoglobulin Light Chains; Macroglossia; Melphalan; Middle Aged; Multiple Myeloma; Myeloma Proteins; Prednisolone

Topics: Aged; Amyloidosis; Drug Therapy, Combination; Female; Follow-Up Studies; Humans; Immunoglobulin kappa-Chains; Macroglossia; Magnetic Resonance Imaging; Melphalan; Prednisolone; Risk Assessment; Severity of Illness Index; Thalidomide; Treatment Outcome

AL amyloidosis was diagnosed in a 56-year-old woman with spontaneous purpura, macroglossia and hepatomegaly, a serum IgGk monoclonal gammopathy and a 25% plasma cell bone marrow infiltration. She was started on high-dose treatment consisting of four monthly cycles of VID chemotherapy, then underwent a stem cell collection after priming with cyclophosphamide + G-CSF. Myeloablative therapy was with melphalan and busulfan. Hematologic recovery was fast and uncomplicated. At follow-up 22 months from ASCT, the patient shows a complete remission of the clonal plasma cell disorder, normalization of liver size and alkaline phosphatase level and a significant improvement in the signs of vascular and soft tissue amyloid infiltration.

Topics: Amyloidosis; Antineoplastic Combined Chemotherapy Protocols; Busulfan; Cyclophosphamide; Dexamethasone; Drug Therapy, Combination; Female; Granulocyte Colony-Stimulating Factor; Hematopoietic Stem Cell Transplantation; Hepatomegaly; Humans; Idarubicin; Macroglossia; Melphalan; Middle Aged; Purpura; Transplantation, Autologous; Treatment Outcome; Vincristine

We reviewed clinical presentation, investigations, therapy, prognosis and outcome of 232 patients with primary (AL) cardiac amyloidosis. There were 142 men and 90 women. Median age at presentation was 59 years (range 29-85). AL heart disease was unusual both in patients under the age of 40 (3.0%) and in non-Caucasians (6.5%). Fatigue and weakness were the commonest presenting symptoms. Hallmark features of periorbital ecchymoses and macroglossia were present in 12.5% and 27.2%, respectively. AL cardiac amyloidosis was unusual in isolation (3.9%), and most frequently patients had features of multiorgan dysfunction; heavy proteinuria and features of malabsorption predominating in this respect. Heart involvement represents the worst prognostic indicator, with a median survival from diagnosis of 1.08 years, falling to 0.75 years with the onset of heart failure. Current therapeutic procedures appear to prolong survival, with left ventricular wall thickness, mass and ejection fraction on echocardiography and late potentials on signal averaged electrocardiography of use in prognostic stratification. Cardiac involvement from AL amyloidosis is rapidly fatal. It should be suspected in all patients with heart failure who have wall thickening on echo, normal chamber sizes, low EKG voltages and evidence suggesting a multisystem disease.

Topics: Adult; Aged; Aged, 80 and over; Amyloidosis; Cardiomyopathies; Colchicine; Drug Therapy, Combination; Ecchymosis; Echocardiography; Electrocardiography, Ambulatory; Fatigue; Female; Follow-Up Studies; Glucocorticoids; Humans; Immunoglobulin Light Chains; Macroglossia; Male; Melphalan; Middle Aged; Prednisolone; Prognosis