What causes the disease and how common is it? Cobalamin (Vitamin B12) isvery important for bone marrow functioning and its deficiency is a cause of anaemia. Vitamin B12 has two forms, one of which, along with folate, is important in DNA synthesis.Imerslund–Gräsbeck syndrome(IGS) is aautosomal recessive megaloblastic anemia (MGA1)due to congenital cobalamin malabsorption with vitamin B12 deficiency caused by malfunction of the “Cubam” receptor located in the terminal ileum.This is a very rare disease, with prevalence about 1 in 200,000 to 1 in 600,000. It is usually seen in patients of European ancestrybut several studies have shown some clusters of the disease in the Scandinavian countries and the Eastern Mediterranean regions.
What are the most frequent symptoms if I have the disease? IGS syndrome typically begins in infancy or early childhood. The primary feature of this condition is a megaloblastic anemia. In this form of anemia, the red cells are abnormally large (macrocytosis) and about half of patients withIGS also have high levels of protein in their urine (proteinuria) without abnormal kidney function. Other clinical manifestations are grow retardation ,pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of IGS include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. High suspicion should be exercised when a neonate, or a pediatric patient presents with anemia, proteinuria, normal vitamin B12dietary intake, and no signs of pernicious anemia.
Which treatment must I follow if I have the disease? IGS essential pathology is due to malabsorption of cobalamin by the bowel and therefore its main treatment is the IVinjection of vitamin B12. Timing is essential, as some of the side effects of vitamin B12 deficiency such as tabes dorsalis, and peripheral neuropathy are reversible.
What is the risk of passing the condition on to my children? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.