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Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.
Features include always present findings: Malabsorption and Decreased circulating immunoglobulin concentration; and very common findings: Hypoalbuminemia, Low red blood cell count (anemia), and Edema. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 10 | Intestinal obstruction, Malabsorption, Abnormal intestine morphology |
Blood and immune system | 5 | Low iron red blood cell count (iron deficiency anemia), Elevated platelet count (thrombocytosis), Recurrent lower respiratory tract infections |
Lungs and breathing | 2 | Recurrent lower respiratory tract infections, Pulmonary embolism |
Bones and joints | 1 | Arthralgia |
Arms and legs | 1 | Clubbing of fingers |
Hormones | 1 | Hypothyroidism |
Growth and development | 1 | Growth delay |
CD55 encodes CD55 molecule (Cromer blood group) (381 aa). This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Highest expression in Whole Blood (181.9 TPM) and Lung (169.8 TPM).
Protein-losing enteropathy is associated with mutations in the CD55 gene on chromosome 1.
The CD55 protein participates in CD55 (DAF) promotes C3bBb/C4bC2a dissociation and CD59 inhibits MAC formation pathways.
CD55 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 10.4.
Genetic testing for CD55 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for protein-losing enteropathy has been reported in the published literature.
No approved treatments are currently available for protein-losing enteropathy. An additional 1 compound holds orphan drug designation.
While no drugs are FDA-approved specifically for protein-losing enteropathy, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.
The following drugs have received orphan drug designation from the FDA for protein-losing enteropathy. Orphan designation reflects regulatory interest and does not indicate approval for treatment.
Brand Name | Generic Name | Sponsor | Designated | Exclusivity End | Designation Status |
|---|---|---|---|---|---|
Veopoz | pozelimab-bbfg | Regeneron Pharmaceuticals, Inc. | 2020 | 2030 | Designated (drug approved for other indication) |
Gene therapy approaches for protein-losing enteropathy have been reported in the published literature.
1 trial found
Phenotype severity distribution: 2 always present features, 3 very common features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE4. Research is primarily industry-sponsored.
217 publications have been identified in PubMed for protein-losing enteropathy. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 65 | 33% |
Research summaries | 42 | 21% |
Disease patterns and progression | 28 | 14% |
Clinical study results | 25 | 13% |
Testing and diagnosis research | 16 | 8% |
Laboratory research | 15 | 8% |
Other research | 3 | 2% |
New treatment approaches | 3 | 2% |
Thomas J (2026). [PMID: 41937906](https://pubmed.ncbi.nlm.nih.gov/41937906/). *ACG case reports journal*. [Case Report / Case Series]
Becking AL (2026). [PMID: 42069413](https://pubmed.ncbi.nlm.nih.gov/42069413/). *Lancet Haematol*. [Case Report / Case Series]
Pultrone M (2026). [PMID: 41882644](https://pubmed.ncbi.nlm.nih.gov/41882644/). *BMC Vet Res*. [Epidemiology / Natural History]
El Omeiri S (2026). [PMID: 41991350](https://pubmed.ncbi.nlm.nih.gov/41991350/). *Semin Roentgenol*. [Review / Meta-Analysis]
Kowalczyk M (2026). [PMID: 42123271](https://pubmed.ncbi.nlm.nih.gov/42123271/). *J Clin Med*. [Review / Meta-Analysis]
Marathe SP (2026). [PMID: 41548840](https://pubmed.ncbi.nlm.nih.gov/41548840/). *J Thorac Cardiovasc Surg*. [Case Report / Case Series]
Schroeder C (2026). [PMID: 41644698](https://pubmed.ncbi.nlm.nih.gov/41644698/). *Scientific reports*. [Clinical Trial Publication]
Jiang L (2026). [PMID: 42112145](https://pubmed.ncbi.nlm.nih.gov/42112145/). *Kidney Med*. [Case Report / Case Series]
J RP (2026). [PMID: 41933582](https://pubmed.ncbi.nlm.nih.gov/41933582/). *Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer*. [Basic Science / Preclinical]
Moriwaki K (2026). [PMID: 41922227](https://pubmed.ncbi.nlm.nih.gov/41922227/). *Journal of clinical and experimental hematopathology : JCEH*. [Case Report / Case Series]
Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 11:14 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning protein-losing enteropathy
Updated Aug 3, 2026
A case report highlights protein-losing enteropathy in a child with hypoplastic left heart syndrome following Fontan palliation. This condition may provide insights into post-operative complications in pediatric cardiac patients.