Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension.
Mastocytosis is a clonal neoplastic disorder of the mast cells (MC) that can be limited to the skin (cutaneous mastocytosis) or involve one or more extracutaneous organs (systemic mastocytosis). The clinical manifestations of mastocytosis are heterogeneous ranging from indolent disease with a long-term survival to a highly aggressive neoplasm with survival of about 6 mo. Although liver involvement in aggressive systemic mastocytosis (ASM) is relatively common, the development of portal hypertension with or without cirrhosis is rare. We report a case of ASM without skin involvement in a 72-year-old caucasian male who presented with non-cirrhotic portal hypertension based on clinical, analytical, imagiological and endoscopic findings. Given the hematological picture, the correct diagnosis was established based on ancillary tests for MC using bone marrow aspirates and biopsy. Extensive involvement of the liver and gastrointestinal tract was histologically documented. The disease progressed rapidly and severe pancytopenia and recurrent upper gastrointestinal bleeding became the dominant problem. This case illustrates the challenge in establishing a diagnosis of ASM especially when the clinical picture is atypical and without skin involvement. Gastroenterologists should consider infiltrative disease, particularly systemic mastocytosis, as a differential diagnosis in a clinical case of portal hypertension of unknown etiology.
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Cláudio
C
Martins
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Cristina
C
Teixeira
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Suzane
S
Ribeiro
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Daniel
D
Trabulo
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Cláudia
C
Cardoso
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
João
J
Mangualde
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Ricardo
R
Freire
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Élia
É
Gamito
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Ana Luísa
AL
Alves
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Isabelle
I
Cremers
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Cecília
C
Alves
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Anabela
A
Neves
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Élia Gamito, Ana Luísa Alves, Isabelle Cremers, Ana Paula Oliveira, Department of Gastroenterology, Setúbal Hospital Center - São Bernardo Hospital, 2910 Setúbal, Portugal.
Ana Paula
AP
Oliveira
D000368:Aged; D001706:Biopsy; D020252:Gastric Antral Vascular Ectasia / Q000175:diagnosis / Q000209:etiology; D005753:Gastric Mucosa / Q000473:pathology; D006529:Hepatomegaly / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D006975:Hypertension, Portal / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D034721:Mastocytosis, Systemic / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D013163:Splenomegaly / Q000000981:diagnostic imaging / Q000209:etiology; D014057:Tomography, X-Ray Computed
Cladribine; Mast cells; Non-cirrhotic portal hypertension; Systemic mastocytosis; Upper gastrointestinal bleeding