This content is machine translated Rare diseases Fanconi-Bickel syndrome Fanconi-Bickel syndrome (FBS) occurs due to variants in the SLC2A2 gene. The diagnosis of a rare genetic disease can take up to 5-6 years, even longer in low and middle…
View Post 3 min This content is machine translated Rare diseases Gaucher disease – a sphingolipidosis A young adult patient with abdominal pain was found to have hepatomegaly and splenomegaly associated with thrombocytopenia and anemia. The bone marrow was then punctured and biopsied, followed by determination…
View Post 6 min This content is machine translated Wound Management For wounds that do not heal, also consider rare causes There are very many different and sometimes rare causes of chronic wounds. Correct diagnosis is critical for adequate treatment. A biopsy is often useful for rare and unclear causes. Wound…
View Post 5 min This content is machine translated Outsourcing of complex patient cases Centers for rare diseases The National Coordination of Rare Diseases (kosek) has recognized three new Swiss centers for the evaluation of patients with unclear diagnoses and complex courses in 2021. Referrals are made by…
View Post 3 min This content is machine translated Amyloidoses Heart complaints can give first indication In the field of rare diseases, there is an enormous need to catch up in terms of knowledge, correct diagnosis and therapy. Many primary care physicians are also feeling this…
View Post 3 min This content is machine translated Care situation for rare diseases Many affected people are still in childhood How are rare diseases defined in the first place and what is the epidemiological situation in Switzerland? In principle, a condition is considered rare or neglected if no more than…
View Post 3 min This content is machine translated Unequal treatment of patients with rare diseases Evaluation of the FOPH under criticism In March, the FOPH published its evaluation of the implementation of Article 71a and b of the Ordinance on Health Insurance (KVV). The evaluation provides plenty of material for discussion.…
View Post 2 min This content is machine translated 4th Swiss Rare Disease Day The goal is a national strategy for rare diseases The 4th Swiss Rare Disease Day took place on Saturday, March 1, 2014, at the Inselspital Bern. The focus was on the numerous administrative, legal and medical problems that patients…
View Post 3 min This content is machine translated Rare diseases Building trust and fostering resilience It usually takes a long time before an adequate diagnosis of a rare disease is made. After all, it is not only primary care physicians who lack specific knowledge about…
