University of Texas Rio Grande Valley at Doctors Hospital at Renaissance McAllen, TX, United States
Arturo Suplee Rivera, MD1, Grigoriy Rapoport, MD2, Mohammed Shakhatreh, MD3, Asif Zamir, MD, FACG3, Juan Castano, MD3 1University of Texas Rio Grande Valley at Doctors Hospital at Renaissance, McAllen, TX; 2University of Texas Rio Grande Valley at Doctor's Hospital at Renaissance, Edinburg, TX; 3University of Texas Rio Grande Valley at Doctors Hospital at Renaissance, Edinburg, TX
Introduction: Mastocytosis is a myeloproliferative, neoplastic disease, most commonly affecting the skin, and is characterized by an abnormal proliferation of mast cells. When it infiltrates other organs, it is classified as systemic mastocytosis (SM). SM with liver involvement is a sign of aggressive disease. Clinical features include hepatomegaly, portal hypertension, ascites, and fibrosis. Development of cirrhosis is a rare outcome of SM. The following is a case of a patient with SM, who initially presented with decompensated liver cirrhosis.
Case Description/Methods: A 55-year-old man with no significant past medical history was evaluated for abdominal bloating. Laboratory exam significant for WBC 1.8 th/uL, Hb 11.6 g/dL, PLT 119 th/uL. Total bilirubin 2.9 mg/dL, AST 13 IU/L, ALT 14 IU/L, ALK Phos 249 IU/L. Liver ultrasound showed hepatomegaly with fatty infiltration and splenomegaly. EGD with small esophageal varices. Bone marrow aspiration with 90-100 % cellularity with features consistent with SM. KIT D816V mutation was positive. Patient refused liver biopsy. The patient developed recurrent ascites 3 months after initial evaluation. CT abdomen now showed a cirrhotic liver and ascites. Fibroscan compatible with advanced fibrosis (F4). He was admitted into a clinical trial and was started on Avapritinib.
Discussion: SM is an uncommon and progressive disease. In its indolent stage patients may present with hepatomegaly, but the aggressive form can present with liver dysfunction. The timing of progression to liver cirrhosis is unclear. Our patient initially presented with signs of liver dysfunction but rapidly progressed (3 months) to decompensated liver cirrhosis with radiological confirmation. Liver involvement by SM is supported by a reduction of ascites once patient was started on tyrosine kinase inhibitor therapy. This case supports recently published data about the efficacy of tyrosine kinase inhibitors in treatment of SM. Early recognition and treatment may prevent the progression of patients to liver cirrhosis.
Figure: A) Bone marrow smear at 60X. B) Positive CD117 immunohistochemistry estimated to represent 60-70% at 40X. C) Bone marrow H&E at 20X. D) Allele-specific PCR positive for D816V mutation.
Disclosures: Arturo Suplee Rivera indicated no relevant financial relationships. Grigoriy Rapoport indicated no relevant financial relationships. Mohammed Shakhatreh indicated no relevant financial relationships. Asif Zamir indicated no relevant financial relationships. Juan Castano indicated no relevant financial relationships.
Arturo Suplee Rivera, MD1, Grigoriy Rapoport, MD2, Mohammed Shakhatreh, MD3, Asif Zamir, MD, FACG3, Juan Castano, MD3. P0769 - A Case of Systemic Mastocytosis With Rapid Progression to Liver Cirrhosis, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.
