Gaucher’s disease (GD) is a rare hereditary metabolic disorder affecting lysosomal storage, with an autosomal recessive inheritance pattern, caused by mutations to the GBA1 gene. This article retrospectively describes the clinical case of a woman patient diagnosed at 2.5 years with GD type I at Jerez university hospital, the development of which has been monitored at the same hospital for over 20 years. After receiving enzyme replacement treatment for 5 years, though it was interrupted due to inadequate supplies of the enzyme, since 2011 (taking part in the ENCORE study) she has been treated with eliglustat tartrate, a substrate reduction therapy. Response to treatment is good and the therapeutic aims are being achieved. The bilateral sacroileitis remains, though it is stable and controlled.

Gaucher's disease (GD) is an infrequent, progressive hereditary illness with an autosomal recessive inheritance pattern. It is one of the most common lysosomal diseases, with an estimated frequency of 1/50,000 to 1/100,000 in the general population, with the exception of the Ashkenazi Jewish ethnic group, where it is estimated to affect 1/850 births. This article retrospectively describes the evolution of 2 patients with type 1 GD diagnosed and monitored for 20 years at the Torrecárdenas hospital in Almería, managing to control the symptoms with enzyme replacement therapy at intermediate doses. Both patients have remained stable with maintenance enzyme doses and, after prolonged monitoring, effects on bones are minimal and they have adequate quality of life.

The diagnosis and treatment of pediatric Gaucher disease is difficult due to its clinical variability. Three pediatricians, experts in the disease, have proposed a series of recommendations regarding the subject. The patient must be taken care of by a multidisciplinary team, in a pediatric center with experience in metabolic diseases. The diagnosis of the symptomatic patient is guaranteed by the anamnesis, physical exam (visceral, hematologic, skeletal and/or CNS involvement), complementary exams and confirmation by means of enzymatic and genetic studies. The therapeutic objectives are recovery from exhibited symptoms, beneficial modification of the natural course of the disease and avoidance of development of associated pathology. In patients with no neurologic pathology <20 years old, iv enzymatic replacement therapy is mandatory but in case of neurologic pathology it does not exert an effect on SNC, although it may be used in type III to improve visceral and bone manifestations.