Paroxysmal Nocturnal Hemoglobinuria (PNH) is the rare thrombophilic and hematopoietic stem cell disorder with an annual incidence rate of as low as 1-2 cases per million. About 16% of these patients present with visceral vein thrombosis which is the most common cause of mortality. We here present an extremely rare case of a young man presenting with extensive thrombosis of multiple visceral veins from PNH.
A 36-year-old Hispanic man with no significant medical history presented to the emergency department with diffuse abdominal pain of 4 days duration, radiating to the back. The patient also reported weight loss of 5lbs over the preceding one month. Initial laboratory tests revealed transaminitis; and pancytopenia with reticulocytosis, increased serum lactate dehydrogenase (LDH) and decreased serum haptoglobin levels. Patient was found to have elevated …show more content…
Patients with PNH often present with hemoglobinuria, abdominal pain, fever, headache and fatigue. While hepatic and cerebral veins are the most common sites of thrombosis, PVT is extremely rare with only about 12 cases reported in literature. Sparing of hepatic vein with involvement of portal vein and mesenteric veins makes this case highly unusual. A gastroenterologist must be keenly aware and consider the diagnosis of PNH in any young patient presenting with abdominal pain and hemolysis with abdominal visceral vein thrombosis, especially in absence of underlying cirrhosis. It is imperative that these patients are started on anticoagulation at the earliest given the high mortality. Eculizimab is a monoclonal antibody used in the secondary prevention of disease known to act by inhibiting the activation of complement cascade system. Allogenic hemopoietic stem cell transplantation is considered for refractory
A 36-year-old Hispanic man with no significant medical history presented to the emergency department with diffuse abdominal pain of 4 days duration, radiating to the back. The patient also reported weight loss of 5lbs over the preceding one month. Initial laboratory tests revealed transaminitis; and pancytopenia with reticulocytosis, increased serum lactate dehydrogenase (LDH) and decreased serum haptoglobin levels. Patient was found to have elevated …show more content…
Patients with PNH often present with hemoglobinuria, abdominal pain, fever, headache and fatigue. While hepatic and cerebral veins are the most common sites of thrombosis, PVT is extremely rare with only about 12 cases reported in literature. Sparing of hepatic vein with involvement of portal vein and mesenteric veins makes this case highly unusual. A gastroenterologist must be keenly aware and consider the diagnosis of PNH in any young patient presenting with abdominal pain and hemolysis with abdominal visceral vein thrombosis, especially in absence of underlying cirrhosis. It is imperative that these patients are started on anticoagulation at the earliest given the high mortality. Eculizimab is a monoclonal antibody used in the secondary prevention of disease known to act by inhibiting the activation of complement cascade system. Allogenic hemopoietic stem cell transplantation is considered for refractory