Abstract
This paper reports on the successful management of hyperphagia (exaggerated hunger) in a 14yr-old female with Prader–Willi syndrome (PWS). This child was diagnosed with PWS, (maternal uniparental disomy) at 18 months due to developmental delay, hypertonia, weight gain and extreme eating behaviour. Treatment of a supplement for appetite suppression commenced at 2 years of age. This single-case records ingestion of an Indian cactus succulent Caralluma fimbriata extract (CFE) over 12 years, resulting in anecdotal satiety, free access to food and management of weight within normal range. CFE was administered in a drink daily and dose was slowly escalated by observation for appetite suppression. Rigorous testing determined blood count, vitamins, key minerals, HbA1c, IGF-1 and function of the liver and thyroid all within normal range. The report suggests a strategy for early intervention against hyperphagia and obesity in PWS. This case was the instigator of the successful Australian PWS/CFE pilot and though anecdotal, the adolescent continues to ingest CFE followed by paediatricians at the Royal Children’s Hospital Melbourne, Victoria, Australia. Future clinical trials are worth considering, to determine an appropriate dose for individuals with PWS.
Highlights
Prader-Willi syndrome (PWS) establishes a disrupted appetite with complex physical, behavioural and intellectual issues at a prevalence of 1:15,000–1:30,000 [1,2]
The hypothalamic dysfunction in PWS may be similar to early onset obesity or hypothalamic obesity [3,4] in PWS the disturbed neuroendocrine physiology is due to simultaneous non-functioning genes of the paternal chromosome in the critical region 15q11.2–q13
In PWS the characteristic appetite phenotype is established over three main phases [5] through: (1) ‘failure to thrive’; (2a) increased weight gain with minimal adjustment in caloric intake; (2b) increased interest in food and caloric intake with a switch to hyperphagia at the median of 54 months and (3) the propensity to excessive eating
Summary
Prader-Willi syndrome (PWS) establishes a disrupted appetite with complex physical, behavioural and intellectual issues at a prevalence of 1:15,000–1:30,000 [1,2]. The predominant difficulty in PWS is an exaggerated appetite and a complex physiology which causes obesity. In PWS the characteristic appetite phenotype is established over three main phases [5] through: (1) ‘failure to thrive’ (newborn); (2a) increased weight gain with minimal adjustment in caloric intake; (2b) increased interest in food and caloric intake with a switch to hyperphagia at the median of 54 months and (3) the propensity to excessive eating (mean age 8 years). Similar to obesity reported due to mutations in the PCSK1 gene [8], PWS establishes hypogonadotropic, hypogonadism and growth deficits. Research into appetite supplements is limited [9,10]
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