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FindZebra
Datensatz: hae:25735130
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: hae:25735130
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Dulaglutide is an injectable glucagon-like peptide-1 receptor agonist approved for the treatment of adults with type 2 diabetes. Angioedema is defined as self-limiting edema, localized in the deeper layers of the skin and mucosa. Angioedema can be hereditary or acquired which can be allergic due to reactions to foods, insect bites and stings, and latex, drug-induced, caused by physical stimuli and associated with lupus erythematosus and hypereosinophilia. Angioedema represents a rare adverse event of glucagon-like peptide-1 receptor agonists. The only glucagon-like peptide-1 receptor agonist that has been mentioned to induce angioedema in literature is exenatide. We report the first case of dulaglutide-associated angioedema in a 72-year-old male in order to point out to the clinicians this potential rare side effect of this drug and its clinical significance.
Auszug in der Originalsprache. Karakousis N, Kostakopoulos NA, Georgakopoulou VE, Pyrgioti EE, Georgakopoulos PN. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: hae:34987924
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A. We report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis) apparently non related to PKU. This is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD.
Auszug in der Originalsprache. Concolino D, Rapsomaniki M, Disabella E, Sestito S, Pascale MG, Moricca MT, Bonapace G, Arbustini E, Strisciuglio P. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:20478016
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
One out of seven patients with severe aortic stenosis (AS) undergoing transcatheter aortic valve replacement (TAVR) may be affected by transthyretin cardiac amyloidosis (ATTR-CA), mostly presenting with low-flow low-gradient AS with mildly reduced ejection fraction. The complex interaction of these two pathologies poses specific diagnostic and management challenges. The prognostic implications of this clinical intersection are not defined yet. Moreover, whether TAVR may have a prognostic benefit in ATTR-CA patients with symptomatic severe AS remains unclear, posing doubts on the best management strategy in this increasingly recognized subset of patients. We present a case of an 87-year old man with low-flow low-gradient severe AS, for whom a diagnosis of ATTR-CA was suspected based on clinical and echocardiographic criteria specific to coexisting AS and ATTR-CA. The diagnosis was eventually confirmed by positive bone tracer scintigraphy imaging. Following in-depth Heart team discussion, integrating frailty and prognostic information from combined cardiomyopathy states, a decision was made to manage the patient's severe AS conservatively. In the presented case, we deemed the natural history of ATTR-CA amyloidosis to negatively affect both the patient' prognosis and procedural risk, adversing TAVR indication despite symptomatic severe AS. No clear evidence is currently available to guide decision making in this setting, advocating for prospective studies to clarify if TAVR may have a prognostic benefit in ATTR-CA - and which ATTR-CA - patients.
Auszug in der Originalsprache. Gallone G, Landra F, D'Ascenzo F, Conrotto F, Casoni R, Bruno F, Omedè P, Alunni G, Andreis A, Vairo A, Giorgi M, Fava A, De Ferrari GM. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fac:32487051
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Fabry disease is a rare disease, defined as an X-linked lysosomal deposition disease that presents with multisystemic symptoms, including vascular impairment with thrombotic events. A 57-year-old female patient diagnosed with Fabry disease 11 years previously, presented with hyperhidrosis, hypoacusis, and angiokeratoma on the hands. Her previous pathological history included an episode of ischemic stroke before the age of 40 years and chronic acute thrombosis in the right lower limb, 1 year previously, which had been treated with stent angioplasty, with temporary improvement followed by recent relapse of the condition. Thrombotic events fit the typical symptoms of Fabry disease and are caused by deposition of globotriaosylceramide in the vascular endothelium, constituting a prothrombotic state and explaining the recurrence of symptoms and arterial thrombosis in the lower limb.
Auszug in der Originalsprache. Moraes AO, Zubiolo TFM, Brito AFB, Belentani J, Santos JF, Dos Santos GN, Faccin LF, Silva LG. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:32499824
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba