Case report of the late diagnosis of diffuse lymphangioleiomyomatosis in a female patient with a fatal outcome

Lymphangioleiomyomatosis (LAM) is a rare disease that affects many organs, including the lungs, as well as the abdominal and pelvic organs. Currently, there are no national clinical guidelines for the diagnosis and treatment of LAM, which increases the risk of late diagnosis. The tactic basis for a practical approach to patients in LAM is the guideline by the European Respiratory Society. According to it, we can establish the diagnosis of “definite LAM” without histological verification by a typical picture on high-resolution computed tomography of the chest organs (HRCT CHO) and the one of a several criteria. At the same time there is not a straightly regulation for histological criteria to verify the diagnosis and moreover they include not only the linear immunological markers but many others, some of which are presented in this demonstration. The aim of this presentation is the increasing of medical specialists’ attention to LAM during an examination of their patients. There is a clinical case of definite LAM in a 40-year-old woman with an angiomyolipoma of the left kidney, uterine fibroid and a typical HRCT CHO picture of LAM, with an intravital histological verification and death before the start of specific therapy. This clinical case demonstrates late diagnosis of the disease, that is caused probably by the low awareness of the medical community about rare diseases, as well as a significantly delayed start of specific therapy, despite the fact it was prescribed in a relatively short time after diagnosis. The solution to both issues could be the creating of national clinical guidelines for the diagnosis and treatment of LAM, including clear algorithms of action of doctors, including outpatient physicians.

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