Gastrointestinal Kohlmeier-Degos disease: a narrative review
Samantha S Sattler1, Cynthia M Magro2, Lee Shapiro3
1Albany Medical College, Albany, NY, USA.
Insights
Kohlmeier-Degos (K-D) disease, a rare vasculopathy, often involves the gastrointestinal tract and can lead to fatal perforations. Prompt diagnosis via laparoscopy and treatment with eculizumab and treprostinil are crucial for improving outcomes in gastrointestinal K-D.
Area of Science:
- Vascular pathology
- Gastroenterology
- Rare diseases
Background:
- Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy with potential for severe systemic involvement.
- Gastrointestinal tract involvement is common in systemic K-D, with bowel perforations being a frequent cause of mortality.
- Early recognition and intervention are critical for managing gastrointestinal K-D.
Purpose of the Study:
- To provide comprehensive information on gastrointestinal K-D symptomology, pathology, diagnosis, and treatment.
- To emphasize the importance of timely diagnostic laparoscopy for K-D patients presenting with abdominal symptoms.
- To highlight varying presentations and outcomes through case examples.
Main Methods:
- Review of existing reports on gastrointestinal K-D.
- Presentation of three new cases illustrating diverse disease manifestations.
- Discussion of diagnostic techniques, including laparoscopy.
- Analysis of current and proposed treatment strategies.
Main Results:
- Gastrointestinal perforation in K-D is typically preceded by symptoms such as abdominal pain, vomiting, or bleeding.
- Small intestine perforation is most common, often leading to sepsis and death.
- Laparoscopy is a highly sensitive diagnostic tool, revealing characteristic porcelain plaques.
- Eculizumab combined with treprostinil shows promise as an effective treatment.
Conclusions:
- Prompt laparoscopic evaluation is essential for K-D patients with abdominal symptoms to enable diagnosis and treatment.
- Initiating eculizumab treatment as soon as possible is recommended for gastrointestinal K-D due to its immediate onset of action.
Introduction:
Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently involved in systemic disease and mortality is often related to bowel perforations. Herein, we provide information to providers and patients regarding gastrointestinal K-D symptomology, pathology, treatment, and diagnosis, with a focus on the importance of timely diagnostic laparoscopy. We present three new cases of gastrointestinal K-D to highlight varying disease presentations and outcomes. BODY: Based on reviewed reports, perforation is preceded by at least one gastrointestinal symptom: abdominal pain/cramping, anorexia/weight loss, vomiting, diarrhea, nausea, gastrointestinal bleeding, obstipation, constipation, and abdominal fullness. Perforation most commonly occurs in the small intestine and often results in sepsis and death. Although underutilized, laparoscopy is the most sensitive and specific diagnostic technique, demonstrating serosal porcelain plaques similar to those on the skin and characteristic for K-D. The combination of eculizumab and treprostinil is presently the most effective treatment option for gastrointestinal K-D. The pathology of gastrointestinal K-D is characterized by an obliterative intimal arteriopathy eventuating in occlusive acellular deposits of mucin and collagen along with an extravascular pauci-cellular sclerosing process resembling scleroderma confined to the subserosal fat. C5b-9 and interferon-alpha are both expressed in all caliber of vessels in the affected intestine. While C5b-9 blockade does not prevent the intimal expansion, enhanced type I interferon signaling is likely a key determinant to intimal expansion by, causing an influx of monocytes which transdifferentiate into procollagen-producing myofibroblast-like cells.
Conclusion:
Prompt laparoscopic evaluation is necessary in any K-D patient with an abdominal symptom to facilitate diagnosis and treatment initiation, as well as to hopefully decrease mortality. Those with gastrointestinal K-D should start on eculizumab as soon as possible, as onset of action is immediate.
Related Concept Videos
01:29Gastroesophageal Reflux Disease II: Clinical Features and Management
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
01:17Gastritis-II: Pathophysiology
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
01:20Gastrointestinal Motility Disorders
01:17Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
01:28Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
01:28Peptic Ulcer Disease II: Pathophysiology
Damaging agents such as Helicobacter pylori, gastric acid, pepsin, and nonsteroidal anti-inflammatory drugs (NSAIDs) can weaken the mucosal defense, allowing hydrogen ions to infiltrate back and harm epithelial cells.