L H P Vroegindeweij1, E H van der Beek1, A J W Boon2, M Hoogendoorn3, J A Kievit4, J H P Wilson1, J G Langendonk1. 1. Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands. 2. Department of Neurology, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands. 3. Department of Haematology, Medical Centre Leeuwarden, Leeuwarden, The Netherlands. 4. Department of Clinical Genetics, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Abstract
AIM: To detect features that might lead to the early diagnosis and treatment of aceruloplasminemia, as initiation of treatment before the onset of neurological symptoms is likely to prevent neurological deterioration. METHODS: The PubMed and OMIM databases were searched for published cases of aceruloplasminemia. Diagnostic criteria for aceruloplasminemia were undetectable or very low serum ceruloplasmin, hyperferritinemia and low transferrin saturation. Clinical, biochemical and radiological data on the presentation and follow-up of the cases were extracted and completed through e-mail contact with all authors. RESULTS: We present an overview of 55 aceruloplasminemia cases, including three previously unreported cases. Diabetes mellitus was the first symptom related to aceruloplasminemia in 68.5% of the patients, manifesting at a median age of 38.5 years, and often accompanied by microcytic or normocytic anaemia. The combination preceded neurological symptoms in almost 90% of the neurologically symptomatic patients and was found 12.5 years before the onset of neurological symptoms. CONCLUSIONS: There is a diagnostic window during which diabetes and anaemia are present although there is an absence of neurological symptoms. Screening for aceruloplasminemia in adult non-obese individuals presenting with antibody-negative, insulin-dependent diabetes mellitus and unexplained anaemia is recommended. The combination of ferritin and transferrin saturation provides a sensitive initial measure for aceruloplasminemia.
AIM: To detect features that might lead to the early diagnosis and treatment of aceruloplasminemia, as initiation of treatment before the onset of neurological symptoms is likely to prevent neurological deterioration. METHODS: The PubMed and OMIM databases were searched for published cases of aceruloplasminemia. Diagnostic criteria for aceruloplasminemia were undetectable or very low serum ceruloplasmin, hyperferritinemia and low transferrin saturation. Clinical, biochemical and radiological data on the presentation and follow-up of the cases were extracted and completed through e-mail contact with all authors. RESULTS: We present an overview of 55 aceruloplasminemia cases, including three previously unreported cases. Diabetes mellitus was the first symptom related to aceruloplasminemia in 68.5% of the patients, manifesting at a median age of 38.5 years, and often accompanied by microcytic or normocytic anaemia. The combination preceded neurological symptoms in almost 90% of the neurologically symptomatic patients and was found 12.5 years before the onset of neurological symptoms. CONCLUSIONS: There is a diagnostic window during which diabetes and anaemia are present although there is an absence of neurological symptoms. Screening for aceruloplasminemia in adult non-obese individuals presenting with antibody-negative, insulin-dependent diabetes mellitus and unexplained anaemia is recommended. The combination of ferritin and transferrin saturation provides a sensitive initial measure for aceruloplasminemia.
Authors: Alan Zanardi; Antonio Conti; Marco Cremonesi; Patrizia D'Adamo; Enrica Gilberti; Pietro Apostoli; Carlo Vittorio Cannistraci; Alberto Piperno; Samuel David; Massimo Alessio Journal: EMBO Mol Med Date: 2018-01 Impact factor: 12.137
Authors: Mária Ondrejkovičová; Sylvia Dražilová; Monika Drakulová; Juan López Siles; Renáta Zemjarová Mezenská; Petra Jungová; Martin Fabián; Boris Rychlý; Miroslav Žigrai Journal: BMC Gastroenterol Date: 2020-04-07 Impact factor: 3.067
Authors: Lena H P Vroegindeweij; Agnita J W Boon; J H Paul Wilson; Janneke G Langendonk Journal: Orphanet J Rare Dis Date: 2020-04-25 Impact factor: 4.123