Duodenal somatostatinoma and erythrocytosis in a patient with von Hippel-Lindau disease type 2A.
A female with von Hippel-Lindau (VHL) disease type 2A first presented with erythrocytosis at the age of 9 years. This patient revealed multiple paragangliomas at age 22. After the removal of tumors, a retinal hemangioblastoma developed. Our diagnosis of VHL disease type 2A was confirmed. Moreover, systemic examination showed a duodenal somatostatinoma. Frequent and long-term monitoring is important for patients with pheochromocytomas or paragangliomas, and a screening for VHL disease and other hereditary cancer syndromes is recommended. Recognition of neuroendocrine tumors as a manifestation of VHL disease permits earlier diagnosis and improves prognosis.
Karasawa
Y
Y
Department of Internal Medicine 2, Shinshu University Medical School, Matsumoto.
Sakaguchi
M
M
Minami
S
S
Kitano
K
K
Kawa
S
S
Aoki
Y
Y
Itoh
N
N
Sakurai
A
A
Miyazaki
M
M
Watanabe
T
T
Akimoto
M
M
Arakura
N
N
Kiyosawa
K
K
D000328:Adult; D000747:Anemia, Hypochromic / Q000209:etiology; D001786:Blood Glucose / Q000032:analysis; D002395:Catecholamines / Q000097:blood / Q000652:urine; D004379:Duodenal Neoplasms / Q000235:genetics*; D005260:Female; D005951:Glucose Tolerance Test; D018325:Hemangioblastoma / Q000235:genetics; D006801:Humans; D009363:Neoplasm Proteins / Q000097:blood; D010235:Paraganglioma / Q000235:genetics; D018962:Phlebotomy / Q000009:adverse effects; D011086:Polycythemia / Q000235:genetics*; D011247:Pregnancy; D012163:Retinal Detachment / Q000209:etiology; D019572:Retinal Neoplasms / Q000235:genetics; D013004:Somatostatin / Q000097:blood; D013005:Somatostatinoma / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000097:blood / Q000145:classification / Q000473:pathology*
D001786:Blood Glucose; D002395:Catecholamines; D009363:Neoplasm Proteins; D013004:Somatostatin