జర్నల్ ఆఫ్ హెపటాలజీ అండ్ గ్యాస్ట్రోఇంటెస్టినల్ డిజార్డర్స్
అందరికి ప్రవేశం

నైరూప్య

మైలోమాతో అనుబంధించబడిన అమిలాయిడ్ లైట్-చైన్ అమిలోయిడోసిస్‌లో కారకం X లోపం: ఒక కేసు నివేదిక

Cyrine Makni Mehrez*, L Hamzaoui, M Mahmoudi, A Khsiba, H Ayadi, E Chalbi, S Nechi, M Medhioub, MM Azouz

Introduction: Systemic AL amyloidosis is a serious disease. Its prognosis depends on the extent of the amyloid deposits and the extent of cardiac involvement. Without effective treatment, the median survival is approximately 12 months. About 10% of patients with multiple myeloma have associated AL amyloidosis. The survival of patients with AL amyloidosis and MM is significantly less than the survival of patients with AL amyloidosis alone. Otherwise, hepatic involvement is frequent, and it is reported in 70% of patients with amyloidosis. Factor X deficiency is a possible but rare complication of primary AL amyloidosis (6% of cases). It is thought to be the consequence of binding between factor X and amyloid in all organs, especially the liver and spleen.

Case: We report a case of hepatic AL amyloidosis associated with acquired factor X deficiency, of a 59-year-old man with no prior medical history who was admitted for epigastric abdominal pain with asthenia, weight loss and anorexia.On physical examination we found atrophy of the thenar and hypothenar eminences and hepatomegaly. Laboratory tests showed prolonged prothrombin time (PT=14%), increased alkaline phosphatase level to 3 times normal and gamma glutamyltransferase level to 13 times normal. Transaminases, bilirubin, albumin, hemoglobin and platelet counts were within normal limits. Coagulation factor assays revealed a significant reduction in factor X activity, <5%, and factor VII activity of 18%. Other clotting factor activities were not decreased, particularly factor V activity (78%). Virological and immunological markers of liver disease in plasma serum were negative. Hepatic ultrasound showed homogeneous hepatomegaly. Upper gastrointestinal endoscopy was normal. The evolution during hospitalization was marked by the appearance of diarrhea, ascitic edematous syndrome and orthostatic hypotension. Urinalysis detected proteinuria of (3 g/day), while protein electrophoresis showed a decrease in blood protein level to 23 g/L with a decrease in albumin level to 13 g/L. The serum creatinine level was decreased and the serum creatinine level increased. Systemic amyloidosis with renal and hepatic involvement was suspected. A salivary gland biopsy was performed, and an AL-type amyloid deposit was identified. A bone marrow aspiration was performed; the results were consistent with multiple myeloma. Treatment with chemotherapy (Melphalan) and high-dose prednisone was started. However, the patient worsened and died 6 months after the initial diagnosis of multiple myeloma associated with systemic AL amyloidosis. The level of factor X activity remained unchanged under treatment.

Conclusion: Systemic AL amyloidosis secondary to multiple myeloma with liver involvement associated with severe factor X deficiency is a severe and fatal form, which requires early diagnostic and therapeutic management.