Recurrent, Severe, and Unexplained Intestinal Pain
Intestinal pain is a common but nonspecific symptom that sometimes can signal an underlying rare disease, particularly when it is recurrent, severe, and unexplained.
In the context of rare diseases, it can result from:
Metabolic and Lysosomal Storage Diseases
- Fabry Disease: One of the hallmark symptoms is recurrent abdominal or intestinal discomfort, caused by glycosphingolipid accumulation in the autonomic nerves and blood vessels of the intestines, leading to ischemia and neuropathic pain.
- Gaucher Disease: Enlarged liver and spleen can compress abdominal organs, causing intestinal discomfort, fullness, and pain.
- Lysosomal Acid Lipase Deficiency (LAL-D): May cause chronic abdominal pain due to liver and intestinal lipid accumulation.
Autoinflammatory and Autoimmune Diseases
- Hereditary Angioedema (HAE): During abdominal attacks, intestinal wall swelling leads to cramping, severe pain, nausea, and vomiting, often mistaken for acute abdomen.
- EGPA: A rare immune-mediated disorder causing chronic abdominal pain, diarrhea, and malabsorption due to eosinophilic infiltration of the gut.
Oncologic and Hematologic Rare Diseases
- Castleman Disease: Abdominal lymphadenopathy and cytokine-driven inflammation can lead to chronic pain in the intestines or abdomen.
- Systemic Mastocytosis: Mast cell activation causes histamine release, leading to abdominal cramps, diarrhea, and pain.
When to suspect a rare disease
Having recurrent or periodic pain in the intestines alone is not enough for a rare disease diagnosis. However, the doctor should consider it when this signal is associated with systemic symptoms, like fever, fatigue, skin lesions, night sweats, unexplained weight loss, nighttime abdominal pain, pain that awakens from sleep, or organomegaly.
Also, if the pain in the abdomen is resistant to conventional treatments, and if there is a Family history of rare or genetic diseases.
If you suspect you might have a rare condition, reach out to a specialist.