Differential Diagnosis for a 90-year-old Woman with G.I. Bleeding and Profound Anemia

Given the patient's history of G.I. bleeding leading to profound anemia, along with a significant family history of unexplained bleeding, the differential diagnosis can be categorized as follows:

• Single Most Likely Diagnosis
  • Hereditary Hemorrhagic Telangiectasia (HHT): This condition is characterized by recurrent episodes of bleeding, often from gastrointestinal telangiectasias, and a strong family history of similar bleeding episodes. The patient's age and the fact that multiple generations are affected support this diagnosis.
• Other Likely Diagnoses
  • Von Willebrand Disease: A common inherited bleeding disorder that could explain the patient's and her family members' history of unexplained bleeding. However, the gastrointestinal bleeding pattern might be less typical.
  • Gastrointestinal Angiodysplasia: A condition that can cause recurrent GI bleeding, especially in the elderly. While it doesn't directly explain the family history, it's a common cause of GI bleeding in this age group.
• Do Not Miss Diagnoses
  • Gastrointestinal Cancer: Although less likely given the family history, gastrointestinal cancer can cause profound anemia and GI bleeding. Missing this diagnosis could be fatal.
  • Amyloidosis: A condition that can cause GI bleeding and has a variety of systemic manifestations. It's less common but critical not to miss due to its poor prognosis if untreated.
• Rare Diagnoses
  • Ehlers-Danlos Syndrome: A group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Some types can lead to easy bruising and bleeding, but GI bleeding as a primary symptom is less common.
  • Pseudoxanthoma Elasticum (PXE): A rare genetic disorder that can lead to bleeding due to vascular fragility, including GI bleeding. However, it's characterized by other systemic manifestations like skin and eye changes.

Justification

The patient's presentation with GI bleeding and profound anemia, coupled with a significant family history of unexplained bleeding, points towards a hereditary condition. Hereditary Hemorrhagic Telangiectasia (HHT) is the single most likely diagnosis due to its direct association with GI bleeding and a strong family history of similar symptoms. Other diagnoses, while possible, are either less likely or would require additional specific findings to support them. The "Do Not Miss" category includes conditions that, although less likely, have severe consequences if not diagnosed and treated promptly. Rare diagnoses, while possible, are less probable and would typically require additional specific clinical findings or diagnostic tests to consider them seriously.

Further Tests

• Genetic Testing: For HHT and other hereditary bleeding disorders.
• Endoscopy: To evaluate for gastrointestinal sources of bleeding, including angiodysplasia or telangiectasias.
• Imaging Studies: Such as CT scans or MRI, to evaluate for other sources of bleeding or systemic manifestations of hereditary conditions.
• Coagulation Studies: To assess for von Willebrand disease or other coagulopathies.
• Biopsy: If amyloidosis is suspected, tissue biopsy can be diagnostic.