1. A contact for a cardiometabolic syndrome, a start for a clinical syndrome with neoplasm multiple sites: a case presentation from Crete I.Patramanis1, E.Maridakis1, A.Dombaza1, G.Nikakis1, .T.Vasilopoulos2 ,A.Proistaki3, C.Lionis4 1 Trainee GP, Venizeleio-Pananio Hospital Heraklion Crete 2MD,GP,MSc,Health Center of Agia Varvara Crete 3Social worker in Kalokairinou institution Heraklion Crete 4MD, PhD, Prof of General Practice and Primary Health Care, University of Crete
Cowden syndrome (CS) is part of the PTEN hamartoma tumor syndrome. Hamartomas are benign (noncancerous) tumor-like growths. CS is characterized by a high risk of both benign and cancerous tumors of the breast, thyroid, endometrium (uterus), colorectal, kidney, and skin (melanoma). Other key features are skin changes such as trichilemmomas and papillomatous papules, and macrocephaly. CS is thought to be rare, although it is probably under-diagnosed. It is estimated that CS affects about one in every 200,000 individuals. Conclusion: We are uncertain to what extent the previously diagnosed cardiometabolic syndrome is associated with the identified potential clinical syndrome with neoplasm multiple sites and skin lesions, while this subject should be jointly investigated with geneticists to identify whether an autosomal dominant inheritance pattern exists and continue the clinical laboratory investigation to identify other potential sites of neoplasms. Clinical Relevance: It can be used for educational purpose to reveal the value of a comprehensive clinical approach to cardiovascular patients.
RATIONALE: General Practice is a frontline clinical discipline that may contribute in both natural course of chronic diseases and in the early diagnosis of uncommon diseases. We utilize this case report to continue the discussion found in the literature. Methods & Results : A 49-year-old lady from Crete admitted to the academic primary care practice that served people without health care insurance. The reason for encounter was to check and control her lipid disorder and hypertension. Additionally, she requested to change the ezetimibe/simvastatin medicament she was receiving due to the high cost of it. In her personal health history the lady reported cancer of thyroid and ovarian/ endometrial cancer, while her family pedigree revealed that her mother was diagnosed with thyroid cancer and her sister with ovarian/endometrial cancer respectively and thus were operated. Macrocephaly and some mucocutaneous lesions were identified during the clinical exam, therefore a Cowden Syndrome was suspected.