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Primary Intestinal Lymphangiectasia

Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder where the lymph vessels in the small intestine are dilated and leak lymph fluid into the intestine

Prevalence

Exact prevalence unknown

<1,000

US Estimated

<2,000

Europe Estimated

Age of Onset

Infancy

ICD-10

I89.0

Inheritance

Mostly sporadic

5 Facts you should know

FACT

PIL is also known as Waldmann disease, first described in 1961, and represents a primary disorder of the intestinal lymphatic system.It is characterized by malformed or obstructed intestinal lymphatic vessels

FACT

The resulting protein-losing enteropathy causes hypoalbuminemia, hypogammaglobulinemia, and lymphopenia, leading to edema, ascites, and pleural effusions

FACT

Clinical onset typically occurs in childhood, with symptoms including chronic diarrhea, failure to thrive, and peripheral edema due to severe protein loss

FACT

Diagnosis is confirmed through endoscopy and histopathology, showing dilated mucosal and submucosal lymphatic vessels, and supported by laboratory findings of low serum proteins and lymphocyte counts

FACT

Management includes dietary modification with a low-fat, high-protein diet supplemented with medium-chain triglycerides (MCTs), along with supportive measures to address nutritional deficiencies and complications

Interest over time

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