Abstract
BackgroundThe treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. The short- and long-term effects of recombinant human growth hormone in this selected cohort is still debated, given the natural progression of disease-related skeletal malformations and the paucity of treated patients reported in literature. The presented case series provides detailed information about the response to recombinant growth hormone in MPS patients diagnosed with growth hormone deficiency.Cases presentationThe growth patterns of 4 MPS female patients (current age: 11.7–14.3 years) treated with recombinant human growth hormone due to growth hormone deficiency have been retrospectively analyzed. Two patients, diagnosed with MPS IH, had undergone haematopoietic stem cell transplantation at an early age; the remaining two patients were affected by MPS IV and VI and were treated with enzyme replacement therapy.4/4 patients presented with a progressive growth deceleration before the diagnosis of growth hormone deficiency was confirmed. This trend was initially reverted by a remarkable increase in height velocity after the start of recombinant growth hormone. We recorded an average increase in height velocity z-score of + 4.23 ± 2.9 and + 4.55 ± 0.96 respectively after 6 and 12 months of treatment. After the first 12–24 months, growth showed a deceleration in all the patients. While in a girl with MPS IH recombinant human growth hormone was discontinued due to a lack in clinical efficacy, 3/4 patients grew at a stable pace, tracking the height centile achieved after the cited initial increase in height velocity.Furthermore, mineral bone density assessed via bone densitometry, showed a remarkable increase in the two patients who were tested before and after starting treatment.ConclusionsRecombinant human growth hormone appears to have effectively reverted the growth deceleration experienced by MPS patients diagnosed with growth hormone deficiency, at least during the first 12–24 months of treatment.
Highlights
The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated
Recombinant human growth hormone appears to have effectively reverted the growth deceleration experienced by MPS patients diagnosed with growth hormone deficiency, at least during the first 12–24 months of treatment
In conclusion, our case series highlights that the start of recombinant human growth hormone (rhGH) in Growth hormone (GH)-deficient patients with MPS was followed by a remarkable increase in height velocity for at least 12–24 months
Summary
The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. 4/4 patients presented with a progressive growth deceleration before the diagnosis of growth hormone deficiency was confirmed This trend was initially reverted by a remarkable increase in height velocity after the start of recombinant growth hormone. Simonaro and colleagues reported that GAG storage induces a complex cascade of secondary and tertiary effects, leading to inflammation, apoptosis of cartilage cells, and hyperplasia of synovial membranes, resulting in poorly organized and metabolically abnormal connective tissue matrix [2]. This disruption of cell functions is considered responsible of the diffuse skeletal deformities (i.e. kyphosis, scoliosis, genu valgum) and reduced growth potential in MPS. Metabolic and endocrine (growth hormone deficiency, precocious puberty, hypothyroidism) abnormalities have been reported in a number of cases contributing to reduced growth [3,4,5]
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