Duodenal somatostatinoma and erythrocytosis in a patient with von Hippel-Lindau disease type 2A

Intern Med. 2001 Jan;40(1):38-43. doi: 10.2169/internalmedicine.40.38.

Abstract

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.

MeSH terms

  • Adult
  • Anemia, Hypochromic / etiology
  • Blood Glucose / analysis
  • Catecholamines / blood
  • Catecholamines / urine
  • Duodenal Neoplasms / genetics*
  • Female
  • Glucose Tolerance Test
  • Hemangioblastoma / genetics
  • Humans
  • Neoplasm Proteins / blood
  • Paraganglioma / genetics
  • Phlebotomy / adverse effects
  • Polycythemia / genetics*
  • Pregnancy
  • Retinal Detachment / etiology
  • Retinal Neoplasms / genetics
  • Somatostatin / blood
  • Somatostatinoma / genetics*
  • von Hippel-Lindau Disease / blood
  • von Hippel-Lindau Disease / classification
  • von Hippel-Lindau Disease / pathology*

Substances

  • Blood Glucose
  • Catecholamines
  • Neoplasm Proteins
  • Somatostatin