Rare diseases​

Focus on rare and complex conditions such as systemic mastocytosis and acromegaly.

Rare diseases​

Rare diseases represent a significant challenge for healthcare systems due to their low prevalence, clinical complexity, and often delayed diagnosis. Although each condition affects a small number of individuals, collectively rare diseases impact millions of people worldwide. Many of these conditions are chronic and progressive, requiring specialized, multidisciplinary management.
At Gentili, we are committed to advancing knowledge and developing innovative therapies to improve diagnosis, treatment, and patients’ quality of life.​

Systemic Mastocytosis​

Systemic mastocytosis is a rare disorder characterized by the abnormal accumulation and activation of mast cells in various organs and tissues, including the bone marrow, skin, and gastrointestinal tract. Clinical manifestations range from mild symptoms, such as skin lesions and flushing, to severe systemic involvement including anaphylaxis, organ dysfunction, and reduced quality of life.​
Due to its heterogeneity and non-specific symptoms, diagnosis can be challenging and often delayed. Advances in molecular understanding, particularly involving KIT mutations, have improved diagnostic accuracy and enabled the development of targeted therapies.

Acromegaly

Acromegaly is a rare endocrine disorder caused by excessive secretion of growth hormone (GH), most commonly due to a pituitary adenoma. The disease develops insidiously, with progressive changes in physical appearance, including enlargement of the hands, feet, and facial features, as well as systemic complications such as cardiovascular disease, diabetes, and joint disorders.​
Because of its slow progression and subtle early signs, acromegaly is frequently diagnosed late, when comorbidities are already present. Early diagnosis and appropriate management are essential to reduce morbidity and improve long-term outcomes.

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References

  • European Competence Network on Mastocytosis – Systemic mastocytosis data​.
  • European Organisation for Rare Diseases – Rare disease overview. Available at: https://www.eurordis.org/. Accessed May 2026.​
  • Katznelson L et al. Acromegaly: An Endocrine Society Clinical Practice Guideline. The Journal of Clinical Endocrinology & Metabolism, 2014. Volume 99, Issue 11, 1.​
  • Orphanet – Epidemiology and disease information. Available at https://www.orpha.net/. Accessed May 2026.​
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