Methodology:
The case presented involves a patient with a complex condition who was
ultimately diagnosed with intestinal lymphangiectasia, a rare disease
characterized by excessive loss of proteins through the lymphatic
vessels of the small intestine. This disorder can lead to serious
complications due to protein deficiency and the loss of other important
blood components.
The diagnostic approach was meticulous, considering a variety of
possible causes for the patient’s symptoms, such as extrapulmonary
tuberculosis, autoimmune diseases like Crohn’s disease and systemic
lupus erythematosus, as well as primary immunological disorders. The
observation of characteristic lesions in the small intestine, resembling
”snowflake-like flakes,” during endoscopic evaluation was crucial in
reaching the diagnosis.
Once the histopathological diagnosis of intestinal lymphangiectasia was
established, it was necessary to confirm the abnormal protein loss at
the intestinal level. Therefore, ”99mTc-labeled Albumin Macroaggregate
Scintigraphy” was performed, which not only confirmed the losses but
also localized the sites of greatest leakage, mainly in the terminal
ileum, where snowflake-like lesions were found.
Patient management focused on symptomatic treatment, as there is no
specific therapy for this disease. A high-protein diet was implemented,
and human albumin was administered to address protein deficiency.
However, despite these efforts, the patient experienced progressive
deterioration and developed infectious complications that contributed to
a fatal outcome. 6
It is crucial to highlight that intestinal lymphangiectasia is a disease
with a variable but potentially severe prognosis that can limit the
patient’s life expectancy. Management focuses on relieving symptoms and
preventing complications, but it is not always effective in halting
disease progression. In some cases, such as this one, a fatal outcome is
unfortunately a possibility, especially when severe complications occur.6