Introduction: Anemia in children is still quite common, sometimes it is a secondary symptom of another rare disorder. Rendu-Osler-Weber disease, a genetically determined haemorrhagic diathesis, is characterized by the occurrence of vascular malformations leading to bleeding from the nose, skin and mucous membranes and to various internal organs. Diagnosis facilitates the occurrence of the disease in relatives of the first degree, however, due to the progressive nature of vascular anomalies (full phenotypic expression of the disease >30 years of age), the diagnosis rarely occurs before 18 years of age.
Case report: We present a case of a boy with type 1 diabetes with severe anemia due to chronic epistaxis. The boy has been repeatedly hospitalized because of poorly controlled disease as a result of many years of neglect in self-control. For the same reason, the boy came to the local clinic in December 2016. In lab tests carried out at that time: HbA1c-10.3% and glucose records indicated numerous errors in insulin therapy, failure to comply with the diet. In routinely performed morphology - features of microcytic, non-pigmented anemia (Hb-7.6 g/dl, Ht-29.7%, E-5.73 mln/h, MCV-51.8fl, MCH-13.3 pg, MCHC-25.6 g/dl) and extremely low levels of iron with the absence of clinical symptoms beyond the marked pallor of the skin. In an in-depth interview, the boy has been feeling well, very active - regularly going to the gym, recurrrent nasal bleeding occurs for many months, appearing spontaneously or with minor nasal injuries, besides no other symptoms occur, and also nicotinism. Positive family history for Rendu-Osler-Weber disease in mother and sister was observed. Consulted by an ENT specialist - no signs of active bleeding - conservative treatment was recommended. Due to the deepening of disorders due to heavy epistaxis up to min. Ht 25%, Hb 6.4g%, he required transfusion of RCC, intravenous iron administration. Diagnostic procedures in the direction of vascular malformations has been extended to include imaging examinations - abnormalities in the MR of the head, abdominal and chest CT were not confirmed. As a result of the applied therapy, gradual suppression of bleeding and normalization of the RBC parameters were obtained. Unfortunately, further outpatient control indicates irregular application of the recommended therapeutic procedure - periodic recurrence of nose bleedings and reduction of iron level.
Conclusions: Rendu-Osler-Weber disease is one of the very rare causes of anemia. Lack of the patient cooperation may contribute to exacerbating the course of the disease.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology