The unusual couple: a clinical case of coexistence between aHUS and Fabry’s disease

Abstract

Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (14) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (810).

Fabry disease is a rare tesaurismosis, X linked, due to the deficiency of the lysosomal enzyme alpha-galactosidase A (11-13), necessary for the physiological catabolism of glycosphingolipids. Multisystem clinical manifestations lead to a serious degenerative pathology. The diagnostic suspicion based on anamnesis and careful research of the symptoms and then confirmed by the enzymatic dosage of alpha galactosidase or by molecular analysis, allows the early treatment of the patient with enzyme replacement therapy, guaranteeing the resolution and/or slowing down the evolution of the disease, especially in the brain, heart and kidneys.

In this report, we describe the clinical case of a patient who is a carrier of both rare diseases.

 

Keywords: aHUS, eculizumab, Fabry’s disease, alpha galactosidase, enzyme replacement therapy

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Caso clinico

Riportiamo il caso clinico di una paziente nata nel 1980, prima di due sorelle, in riferita a.b.s fino a gennaio del 2001, epoca in cui presentò un episodio di macroematuria, trattato con terapia antibiotica per sospetta cistite emorragica. Dopo un mese, all’esame delle urine, presentava ancora microematuria. Nel corso del 2001 continuò a lamentare astenia, attribuita allo stress per lo studio e al contemporaneo lavoro di modella, ma non fu sottoposta ad ulteriori esami ematici.  

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A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up

Abstract

Fabry disease (also known as Anderson-Fabry disease, angiocheratoma corporis diffusum, diffuse angiocheratoma) is a rare tesaurismosis linked to the deficiency of the lysosomal enzyme alpha-galactosidase A, required for the physiological catabolism of glycosphingolipids.

The related clinical signs show a multisystemic feature and define a degenerative and disabling pathology, whose approach requires a close multidisciplinary specialist collaboration.

Currently, the renewed interest in the disease is aimed at the need to provide an early diagnosis, in order to early begin the enzyme replacement therapy and to slow down or avoid the establishment of irreparable organ damage. For this reason, the diagnostic suspicion becomes crucial and arises from the careful observation and research of the symptoms, together with the anamnesis and the overall clinical evaluation of the patient.

Keywords: Fabry disease, alpha-galactosidase, sphingolipids, enzymatic replacement therapy

Sorry, this entry is only available in Italian. For the sake of viewer convenience, the content is shown below in the alternative language. You may click the link to switch the active language.

CASO CLINICO

Riportiamo il caso di un paziente di 47 anni, portatore di fattori di rischio per vasculopatia (BMI >35, dislipidemia, fumo, ipertensione arteriosa) e in follow up per insufficienza renale cronica stadio IIIa secondo NKF/KDOQI (sCr 1,3 mg/dL con eGFR 65 mL/min/1,73 mq sec. MDRD), ACR grado A2 (150 mg/g) confermate in più determinazioni successive nell’arco di sei mesi. L’ecografia renale non rivelava alterazioni degne di nota. In precedenza, non era stato possibile effettuare una diagnosi istologica avendo il paziente rifiutato di sottoporsi a biopsia renale.

 

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