Primary Intestinal Lymphangiectasia

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Primary Intestinal Lymphangiectasia Microchapters

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating PIL from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Treatment

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Associate Editor(s)-in-Chief: Mohamed Riad, M.D.[3]

Synonyms and Keywords: PIL, Waldmann disease, Waldmann's disease

Overview

Primary intestinal lymphangiectasia (Waldmann's disease) was first discovered by Waldmann T.A. in 1961, when he reported 18 cases of patients having edema with low serum albumin, gammaglobulin, and protein levels and he called it ''idiopathic hypercatabolic hypoproteinemia". PIL develops as a result of enlargement or dilatation of intestinal lymphatic vessels (lacteals) with leakage of their contents into the bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia, and lymphopenia. The cause of PIL has not yet been identified. The prevalence of PIL is unknown. It can be asymptomatic. It primarily affects children (generally diagnosed before the age of 3) and young adults but may be diagnosed later in adults. Symptoms include pitting edema, diarrhea, fatigue, abdominal discomfort, and malabsorption syndrome. PIL is diagnosed by biopsy revealing dilated intestinal lymphatics. Video-capsule endoscopy may be helpful when endoscopic findings are not conclusive. Common complications of PIL include infections, malignant transformation (lymphoma), and skin warts. There is no definitive treatment for PIL; the mainstay of therapy is a low-fat, high protein diet with medium-chain triglyceride oral supplementation and supplemental calcium and vitamins. PIL is associated with significant morbidity and requires adherence to dietary modification and oral supplements; otherwise. it would be associated with poor outcomes and low quality of life. It can be fatal in some cases if anasarca or malignancy develops.

Historical Perspective

Pathophysiology

Pathology

Genetics

Associated conditions

Gross pathology

Microscopic Pathology

Causes

Differentiating PIL from other Diseases

Disease Clinical manifestations Diagnostic studies
Intestinal Tuberculosis[6]
Inflammatory bowel disease[7]
Intestinal lymphoma[8]
Constrictive pericarditis[9]
Sarcoidosis[10]
Systemic sclerosis[11]
Whipple disease[12]
Radiation and/or chemotherapy with retroperitoneal fibrosis[13]
HIV-related enteropathy[14]
Menetrier's disease
Inflammatory states of systemic lupus erythematosus

Epidemiology and Demographics

Age

Race

  • There is no racial predilection for PIL.

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

Biopsy

Video-capsule endoscopy

History and Symptoms

A 23-year-old woman with PIL since infancy. Note the bilateral lower limb lymphedema, with accentuation of the dorsal flexion folds of the toes. [1]

Laboratory Findings

Ultrasound

CT scan

Albumin scintigraphy

Lymphangiography

Treatment

Medical Therapy

Surgery

Prevention

References

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  3. 3.0 3.1 Samman, Peter D.; White, William F. (1964). "THE "YELLOW NAIL" SYNDROME". British Journal of Dermatology. 76 (4): 153–157. doi:10.1111/j.1365-2133.1964.tb14499.x. ISSN 0007-0963.
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