46. A case report on primary hepatic amyloidosis

Abstract

Background: We describe an unusual case of hepatic amyloidosis. Case Summary: 40 yr old female r/o Secunderabad came with complaints of generalized weakness since 4 months, B/Lpedal odema since 15 days, decreased appetite since 2 months. Pedal odema not associated with PND, ↓ urine output, SOB, abdominal distension. H/O weightloss of 10 kgs over 4 months. No HTN, DM, CVA, CAD, TB, Epilepsy. Systemic examination: Hepatomegaly, 10 cm below costal margin in MCL, moving with respiration, firm in consistency, smooth surface, sharp border Splenomegaly 2–3 cm below costal margins. Investigations: CBP-Hb%-10.5 gm%, TLC–7300/mm3, N-50%, L-45%, E-1%, M-4%, platelets-adequate. HEMOGRAM-Hb-12.5 gm%, PCV-38.4%, RBC-5.5 million/mm3, MCV-72.8 fml, MCH-22.3 pg, MCHC – 30.3, TLC-10500, N-58%, L-38% (3% showing reactive changes), M-2%, E-2%, Platelets – 2.6 lakhs, RBC normocytic normochromic, few target cells seen, WBC within normal limits. No hemoparasites no atypical cells Sr creatinine-0.6 mg%, Sr electrolytes- Na-132, K-4.7, Cl∼99. LFT with enzymes –TB–0.5 mg/dl, CB–0.2 mg/dl, UCB–0.3 mg/dl, SGPT–42 U/L, SGOT-91 U/L, Sr ALP- 1028 U/L, TP-4.3 gm/dl, Albumin–2.6 gm/dl ↓, Sr. globulin-1.7 gm/dl, PT-15.7, INR-1.36. USG Abdomen–Liver enlarged in size, normal echotexture, no focal lesions, few enlarged periportal lymphnodes largest measuring 1 cm. CECT abdomen showed hepatomegaly and splenomegaly. Liver biopsy showed amyloidosis of liver, show amorphous, eosinophilic substance within the extracellular spaces. Immunohistochemistry showed the immune profile is consistent with involvement by AL amyloidosis, lambda chain type ECG–low voltage complexes. Bonemarrow aspiration–mild prominence of plasma cells accounting for 8% of marrow cellularity There is deposition of acellular magenta coloured material within stromal fragments. Spot urine protein creatinine ratio– 5.9. CUE–albumin ++, pus cells –4-5/hpf, epithelial cells –6-7/hpf. 2DECHO–grade 1 diastolic dysfunction, mild MR, mild TR, speckled appearance of IAS and IVS thickened pericardium. Urine for immunofixation electrophoresis – both kappa and lambda type bence jones proteins present in urine Serum protein electrophoresis–low albumin, increased α1, α2, β globulins, normal γ globulin. Conclusions: Primary amyloidosis often involves liver. 27% of primary systemic amyloidosis present with hepatomegaly, while jaundice and portal hypertension are rare. Splenic involvement is common, but splenomegaly is seen in only 10% of patients. Treatment of primary amyloidosis is chemotherapy, traditionally with melphalan and prednisolone. However response rate is only 30% with treatment. The authors have none to declare.