Pearson syndrome

Overview

Pearson syndrome is a rare condition characterized by abnormal functioning of the bone marrow, liver, kidneys and pancreas. Infant death is common.

Symptoms

  • Severe refractory anemia
  • Malabsorption
  • Insufficiently pancreatic exocrine
  • Pancreatic fibrosis
  • Spleen aplasia

Sideroblastic anemia

Causes

  • Iron deficiency –Most common cause of anemia –Due to chronic blood loss (e.g., menstrual, GI bleeding, frequent blood donation)
  • Sideroblastic anemia
  • Lead poisoning
  • Thalassemia
  • Anemia of chronic disease (often late) Macrocytic
  • Vitamin B12 or folate deficiency –Malabsorption –Poor dietary intake –Pernicious anemia –Alcohol abuse
  • Liver disease
  • Alcohol and medications (e.g., chemotherapeutics, HIV medications)
  • Hypothyroidism
  • HIV
  • Myelodysplastic syndrome
  • Acute leukemia
  • Reticulocytosis (e.g., hemolytic anemia, production of RBCs in response to blood loss and/or vitamin B12 or iron repletion)
  • Normocytic Hemorrhage, blood loss
  • Anemia of chronic disease –Renal disease (due to decreased erythropoietin production) –Hypometabolic states (e.g., protein malnutrition, hypothyroidism)
  • Infection
  • Hemolysis (drug-induced, autoimmune, SLE, G-6PD deficiency)
  • Bone marrow disease –Aplastic anemia –Bone marrow invasion (e.g., malignancy)
  • Hypothyroidism
  • Renal insufficiency
  • Sickle cell disease
  • Microangiopathy
  • Membrane defects (e.g., hereditary spherocytosis)
  • Disseminated intravascular coagulation
  • Thrombotic thrombocytopenic purpura

Prognosis

The 'prognosis' of Pearson syndrome usually refers to the likely outcome of Pearson syndrome. The prognosis of Pearson syndrome may include the duration of Pearson syndrome, chances of complications of Pearson syndrome, probable outcomes, prospects for recovery, recovery period for Pearson syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Pearson's marrow-pancreas syndrome. Naturally, such forecast issues are by their nature unpredictable.

Treatment

  • Severe cases of anemia require immediate intervention if hemodynamic compromise occurs
  • Administer supplemental oxygen as needed
  • In cases of ongoing acute blood loss, establish two large-bore IVs; monitor and send for blood type and cross
  • IV fluids as necessary to maintain blood pressure
  • Blood transfusion is generally indicated for Hb 12, as this may increase blood viscosity and impair oxygen delivery
  • Supplement vitamin B12, folate, and iron as necessary
  • Patients with primary marrow disorders require transfusions, further evaluation, and possibly a bone marrow transplant
  • Treat underlying disease according to established protocols