Carlotta Pozzi
Pompe Disease: a treatable condition still underdiagnosed
Autori
- CARLOTTA POZZI (DEPARTMENT OF PEDIATRICS, BUZZI CHILDREN’S HOSPITAL, UNIVERSITY OF MILAN, ITALY – SPECIALIZZANDO IN PEDIATRIA)
- BENEDETTA FRANCESCA RATTI DI DESIO LEVI (PEDIATRIC UNIT, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, UNIVERSITY OF MILAN, ITALY – SPECIALIZZANDO IN PEDIATRIA)
- VALENTINA ROVELLI (CLINICAL DEPARTMENT OF PEDIATRICS, SAN PAOLO HOSPITAL, ASST SANTI PAOLO E CARLO, UNIVERSITY OF MILAN, ITALY – PEDIATRIA)
Presentatore
CARLOTTA POZZI (DEPARTMENT OF PEDIATRICS, BUZZI CHILDREN’S HOSPITAL, UNIVERSITY OF MILAN, ITALY)
Modalità
Poster Session
Abstract
Pompe Disease (also known as glycogen storage disease II) is a genetic disorder that causes progressive weakness to the heart and skeletal muscles due to mutations in GAA. There are two main forms: early onset (complete or near-complete deficiency of GAA) and late onset (partial deficiency of GAA). We present the case of a 34-year-old female with incidentally discovered (age 20 years) hypertransaminasemia (AST up to 150 UI/L, ALT up to 500 UI/L) and hyperCPKemia (up to 800 U/L). Occasional fatigue was also associated; muscle cramps were absent. She was kept on follow up for about 10 years never coming to a diagnosis, even if examined by many physicians including neurologists and geneticists. Investigations like abdominal ultrasound, echocardiography and screening for hepatopathies were normal. Recently she was sent for a consultation to our inborn errors of metabolism unit: elevated AST, ALT, LDH, CPK and CPK-mb values were confirmed (84 IU/L, 89 IU/L, 466 IU/L, 663 IU/L and 5.37 ng/ml, respectively) but alpha glucosidase enzyme assay was immediately performed, identifying low values (0.3 umol/L/h, normal value >2.5). Pompe disease was confirmed due to the finding of two variants in compound heterozygosity, c.-32-13T>G and 525del p.(Glu176Argfs*45). This case highlights the still present need of raising awareness of treatable diseases such as Pompe disease, especially when clear signs are available and specific markers are well known. HyperCPKemia, isolated or associated with hypertransaminasemia, should always prompt clinicians to screen for Pompe disease.