Waldmann disease, also known as Primary Intestinal Lymphangiectasia (PIL), is a rare disease[1] characterized by enlargement of the lymph vessels supplying the lamina propria of the small intestine.[2] Although its prevalence is unknown, it being classified as a "rare disease" means that less than 200,000 of the population of the United States are affected by this condition and its subtypes and there have been approximately 50 reported cases of adult-onset PIL since 1961.[1][3]
| Waldmann disease | |
|---|---|
| Other names | Waldmann's disease, Primary intestinal lymphangiectasia |
Signs and symptoms
editSigns and symptoms of the disease include diarrhea, nausea, swelling of the legs, protein-losing enteropathy, immunodeficiency and loss of lymphatic fluid into the intestines.[2][4] It is usually diagnosed before the patient is 3 years old, but it is sometimes diagnosed in adults.[3]
Pathophysiology
editThe pathophysiology of PIL is centered around the dilation of the lymphatic vessels in the intestinal mucosa, submucosa, and sometimes the mesentery.[5] This dilation impedes the normal flow of lymph from the intestines back to the circulatory system.[5] The overflow of lymphatic fluid into the intestines leads to the loss of lymphocytes, immunoglobulins, and proteins, causing lymphopenia, hypogammaglobulinemia, and hypoalbuminemia, respectively.[5] The loss of proteins contributes to the development of protein-losing enteropathy, a major clinical manifestation of this disease.[5]
Patients with PIL present with a range of symptoms, significantly influenced by the extent of protein loss.[5] Chronic diarrhea and malabsorption are common symptoms [2]. The loss of protein can lead to edema, particularly in the legs and abdomen, due to decreased oncotic pressure.[5] Nutritional deficiencies may develop due to malabsorption, leading to growth retardation in children and weight loss in adults.[3] Immune abnormalities resulting from lymphocyte loss can predispose patients to recurrent infections.[3] Interestingly, the clinical presentation of PIL can range from asymptomatic to severe, implying a broad clinical spectrum.[5] Some adult patients may exhibit minimal or subtle clinical features, diverging from the "textbook" presentations often associated with severe cases.[5] This variability underscores the importance of considering PIL in differential diagnoses, even when clinical manifestations are not severe or typical.
Diagnosis
editThe disease is diagnosed by doing a biopsy of the affected area. Severity of the disease is then determined by measuring alpha1-antitrypsin proteins in a stool sample.[4]
Management
editOnce the main cause of the disease is treated, a diet of low-fat and high-protein aliments, supplemental calcium and certain vitamins has been shown to reduce symptom effects.[4] Adding medium-chain triglycerides (MCTs) to the diet allows for increased caloric intake while adhering to dietary restrictions, helping to manage symptoms such as diarrhea and steatorrhea and promoting growth in affected individuals.[6] This diet, however, is not a cure. If the diet is stopped, the symptoms will eventually reappear.[3] Medication is also used to treat this disease, including Octreotide, Sirolimus, Anti-plasmin and, at least in one case, Trametinib.[7][8]
History
editThe disease was first reported in 1961 by T.A. Waldmann. He described 18 cases of patients having a low level 131I-albumin.[9] [10] Biopsies of the small intestine were examined under the microscope and found various levels of dilatation of the lymph vessels.[11]
References
edit- ^ a b "Waldmann disease". Archived from the original on 2009-05-13. Retrieved 2009-06-11.
- ^ a b Boursier, V.; Vignes, S. (May 2004). "Limb lymphedema as a first manifestation of primary intestinal lymphangiectasia (Waldmann's disease)". Journal des Maladies Vasculaires. 29 (2): 103–106. doi:10.1016/S0398-0499(04)96722-4. ISSN 0398-0499. PMID 15229406.
- ^ a b c d e Vignes, S.; Bellanger, J. (Feb 2008). "Primary intestinal lymphangiectasia (Waldmann's disease)". Orphanet Journal of Rare Diseases (Free full text). 3: 5. doi:10.1186/1750-1172-3-5. PMC 2288596. PMID 18294365.
- ^ a b c Ruiz, Atenodoro R. "Intestinal Lymphangiectasia". Merck. Retrieved 2009-06-11.
- ^ a b c d e f g h Freeman, Hugh James (2011). "Intestinal lymphangiectasia in adults". World Journal of Gastrointestinal Oncology. 3 (2): 19–23. doi:10.4251/wjgo.v3.i2.19. ISSN 1948-5204. PMC 3046182. PMID 21364842.
- ^ Bliss, Charles M.; Schroy, Paul C. (February 2004). "Primary intestinal lymphangiectasia". Current Treatment Options in Gastroenterology. 7: 3-6. doi:10.1007/s11938-004-0019-z.
- ^ Primary Intestinal Lymphangiectasia, Unraveling Adult-Onset. "Unraveling Adult-Onset PIL". lymphangiectasia.com. Retrieved 2023-11-26.
- ^ Kwon, Yiyoung; Kim, Mi Jin (2021-09-01). "The Update of Treatment for Primary Intestinal Lymphangiectasia". Pediatric Gastroenterology, Hepatology & Nutrition. 24 (5): 413–422. doi:10.5223/pghn.2021.24.5.413. ISSN 2234-8646. PMC 8443852. PMID 34557394.
- ^ Waldmann, T. (1961). "Gastrointestinal protein loss demonstrated by 51Cr-labelled albumin". Lancet. 2 (7194): 121–3. doi:10.1016/s0140-6736(61)92646-0. PMID 13782655.
- ^ Waldmann, T.; Steinfeld, J.; Dutcher, T; Levin, E; Berlin, N. (1961). "The role of the gastrointestinal system in "idiopathic hypoproteinemia"". Gastroenterology. 41 (3): 197–2–7. doi:10.1016/S0016-5085(19)35130-3. PMID 13782654.
- ^ Vignes, S.; Bellanger, J. (Mar 2007). "Intérêt de l'entéroscopie par vidéocapsule dans le diagnostic des lymphangiectasies intestinales primitives" [Videocapsule endoscopy as a useful tool to diagnose primary intestinal lymphangiectasia]. La Revue de Médecine Interne (in French). 28 (3): 173–175. doi:10.1016/j.revmed.2006.11.019. ISSN 0248-8663. PMID 17229491.