Haemodynamics: hereditary haemorrhagic telangiectasia: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pathology · Haemodynamics: hereditary haemorrhagic telangiectasia

Sample item

A 35-year-old man has recurrent nosebleeds, mucocutaneous red spots on his lips and fingertips, and a father with the same findings. Platelet count, PT and aPTT are normal. What is the basic lesion?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. Thin-walled dilated vessels lacking elastic fibres and smooth muscle

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu) is autosomal dominant, with mutations in endoglin or ALK1 of the TGF-beta pathway. Abnormal thin-walled vessels bleed easily, and pulmonary arteriovenous malformations can cause paradoxical embolism. Platelets and coagulation tests are normal.

Option by option

  • A. Deficiency of von Willebrand factor

    Von Willebrand deficiency would prolong the bleeding time and often the aPTT.

  • B. Thin-walled dilated vessels lacking elastic fibres and smooth muscle (correct)

    Correct. The vascular wall itself is malformed, so bleeding occurs with normal haemostasis tests.

  • C. Reduced platelet glycoprotein Ib expression

    Reduced glycoprotein Ib is Bernard-Soulier syndrome, with a low platelet count and giant platelets.

  • D. Deficiency of factor VIII

    Factor VIII deficiency would prolong the aPTT and cause joint bleeds.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is B, Thin-walled dilated vessels lacking elastic fibres and smooth muscle. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu) is autosomal dominant, with mutations in endoglin or ALK1 of the TGF-beta pathway.

Why is "Deficiency of von Willebrand factor" not the answer?

Von Willebrand deficiency would prolong the bleeding time and often the aPTT.

Why is "Reduced platelet glycoprotein Ib expression" not the answer?

Reduced glycoprotein Ib is Bernard-Soulier syndrome, with a low platelet count and giant platelets.

Why is "Deficiency of factor VIII" not the answer?

Factor VIII deficiency would prolong the aPTT and cause joint bleeds.

What concept does this question test?

It tests Haemodynamics: hereditary haemorrhagic telangiectasia in Pathology. Abnormal thin-walled vessels bleed easily, and pulmonary arteriovenous malformations can cause paradoxical embolism. Platelets and coagulation tests are normal.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Haemodynamics: hereditary haemorrhagic telangiectasia?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.