Type 1 Gaucher disease: diagnostic and therapeutic challenges

Déborah Costard, Cédric Hermans Published in the journal : April 2020 Category : Rare Diseases

Gaucher disease is the result of a deficiency of a lysosomal enzyme, glucocerebrosidase, which causes the accumulation of its substrate, glucosylceramide, in macrophages. Bone involvement, (hepato)splenomegaly, bleeding diathesis, thrombocytopenia, increased ferritin levels, and immunoglobulin abnormalities, such as monoclonal gammopathy or hypergammaglobulinemia, are all clinical or biological signs that should prompt a diagnosis of Gaucher disease. Type 1, the most common form, is responsible for visceral damage, while Types 2 and 3 are responsible for neurological disorders. The diagnosis, which is facilitated by using algorithms, is based on the confirmation of the enzyme deficiency and search for the causal mutation. Treatment involves the intravenous administration of the deficient enzyme, such as miglucerase, velaglucerase, or taliglucerase) or the use of oral molecules that inhibit the biosynthesis of glycosylceramide like miglustat or eliglustat.

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What challenges for the management of rare diseases? Current situation in Europe and Belgium

Nathalie Lannoy (1), Marie-Françoise Vincent (2), Fabienne Lohest (2), Cédric Hermans (1) Published in the journal : February 2019 Category : Rare Diseases

In Europe, a disease is defined as rare when its prevalence is less than 1 in 2,000. The management of patients with rare diseases refers to the complex and heterogeneous status of some 6,000 to 8,000 diseases, 80% of which are of genetic origin. Rare diseases mostly affect children. Due to the large phenotypic heterogeneity, rarity and unusual nature of rare diseases, the affected patients regularly encounter a lack of knowledge regarding their disease, which is most often associated with diagnostic wavering until an accurate diagnosis is made and lack of treatment.

In order to draw attention on and address this issue, the European Commission has been developing initiatives aiming to ensure the development of concrete measures for the patients and their families across its member states for more than two decades.

Responding to this call, Belgium is committed to improving the management of rare diseases and has thus developed a national plan. Multidisciplinary diagnostic structures were created and supported, partnerships with European reference networks were established, and registers were set up in order to centrally and uniformly collect patient data. This article offers an overview of the characteristics of rare diseases, as well as an inventory of existing measures in both Europe and Belgium.

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Pneumothorax and tuberous sclerosis of Bourneville

Published in the journal : January 2019 Category : Rare Diseases

The adult phenotype of tuberous sclerosis of Bourneville (TSB) differs from the typical triad, usually found in children, namely epilepsy, mental retardation, and cutaneous angiofibromas. Recurrent spontaneous pneumothorax episodes may thus be a clinical presentation, secondary to pulmonary cystic lesions present in 40% of TSB women. Based on a clinical case as illustration, we recall the diagnostic criteria of TSB and pulmonary lymphangiomyomatosis (LAM), along with recommendations for treatment and follow-up.

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Unusual complication of Osler-Weber-Rendu disease

Edeline Kaze (1), François D’heygere (2) Published in the journal : April 2017 Category : Rare Diseases

The combined syndrome of juvenile polyposis / inherited hemorrhagic telangiectasia (JD-HHT Syndrome) is rare, caused by mutations in the MADH4 gene. Affected individuals exhibit the clinical manifestations of both pathologies and are at increased risk of gastrointestinal cancer (1).

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Tuberous sclerosis complex : establishing the correct diagnosis and treatment

Yves Pirson¹, Thien-Anh Ho¹, Nathalie Demoulin¹, Nathalie Godefroid², Valérie Dekeuleneer³, Kenou van Rijckevorsel⁴, Marie-Cécile Nassogne⁵, Riëm El Tahry⁴, Yves Sznajer⁶ Published in the journal : January 2017 Category : Rare Diseases

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the development of hamartomas in several organs, including the brain, kidney, and skin.

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