Ehlers-Danlos Syndrome Type IV with Gastric
Adenocarcinoma
Rajyani Kanechorn Na Ayuthaya MD*,
Nonthaya Patthamapasphong MD**, Thanyachai Sura MD***,
Nucha Niumpradit MD***, Objoon Trachoo BSc***
Affiliation :
* Department of Dermatology,Phramongkutklao Hospital
** Department of Surgery, Priest Hospital
*** Department of Medicine, Ramathibodi Hospital
Background : Ehlers-Danlos syndrome has many subtypes. The vascular type (type IV) is characterized by
thin, translucent skin, easy bruising, characteristic facial appearance, and arterial, intestinal, and/or uterine
fragility.
Objectives: To encourage a better understanding of vascular EDS as a basis for early diagnosis, prevention,
and management of complications. A first case of EDS type IV with adeno-carcinoma of the stomach in
Thailand was reported and literature was reviewed.
Result: A 62-year-old Thai priest was admitted in Priest Hospital because of progressive muscle weakness of
both legs with neurogenic claudication from compression fracture of L1-2. Abdominal aortic aneurysm were
detected with upper gastrointestinal hemorrhage, esophagogastroduodenoscopy showed diffuse gastric body
swelling and erythema resulting in chronic gastritis. Gastric biopsy was indicative of adenocarcinoma of the
stomach and gastrectomy was done. Dermatologists were consulted due to generalized cutaneous pain, easy
bruising following venepuncture, and EKG padding. A vascular EDS type IV was diagnosed.
Conclusion : After gastrectomy, the patient became drowsy and unconscious from profuse recurrent cerebral
hemorrhage and expired.
Keywords : Ehlers-Danlos syndrome type IV, Vascular Ehlers-Danlos, COL3A1 gene, Arterial rupture
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