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解答

https://www.medbullets.com/step1-cardiovascular/8053/osler-weber-rendu-syndrome　からの転用

20-year-old Caucasian male presents with recurrent nosebleeds.
Complete history reveals his father died in his 40's after an intracranial hemorrhag
and two of his father's five siblings have also had recurrent nosebleeds.
Which of the following would you expect to find in this patient?

繰り返す鼻出血を呈する20歳の白人男性。
家族歴としては、患者の父は頭蓋内出血で40歳で死亡、
父の5人兄弟のうち2人も繰り返す鼻出血があった。
以下のうち、本患者で認められるのはどれか。

1. Retinal hemangioblastoma
2. Renal cell carcinoma
3. Mucosal arteriovenous malformations
4. Vestibular schwannoma
5. Cafe-au-lait spots

正解：　3

本患者の疾患：Osler-Weber病（遺伝性出血性末梢血管拡張症）
１．鼻出血、
２．舌・口腔粘膜・指・鼻の末梢血管拡張、
３．内臓病変（胃腸末梢血管拡張、肺、肝、脳、脊髄動静脈奇形）、
４．家族歴（常染色体優性遺伝）を特徴とする疾患。

DISCUSSION:
The clinical picture of recurrent bleeding with a strong family history suggestive
of an autosomal dominant inheritance pattern is consistent with Osler-Weber-Rendu syndrome.
Otherwise known as hereditary hemorrhagic telangiectasia (HHT),
Osler-Weber-Rendu is characterized by
arteriovenous malformations (AVMs) of the skin and mucous membranes.

HHT is an autosomal dominant disorder that results in abnormal blood vessel formation.
Clinically, it presents often as recurrent epistaxis.
Often, there are mucocutaneous telangiectasias characteristically found on the lips, oral cavity,
fingers, and nose.
HHT can also result in a catastrophic events such as sudden death, stroke, or pulmonary hemorrhage,
depending on the location of AVMs.

As discussed by Olitsky et al., the symptoms of HHT can often go unrecognized,
even in patients with affected family members.
The diagnosis of HHT is clinical, based on the presence of 3 of 4 criteria: epistaxis,
telangiectasias, visceral AVMs, or family history of the disease.

Kjeldsen et al. evaluated screening for pulmonary AVMs in patients with HHT.
They found that 15-30% of patients with HHT were affected with pulmonary AVMs
and recommend that the disorder be considered in any patient diagnosed
with a pulmonary AVM because 70% of these occur in patients with HHT.

Illustration A shows multiple telangiectasias on the skin, tongue, and buccal mucosa.




＜診断基準＞

Definiteのみを対象とする。
Probable及びPossibleの場合は、
さらにオスラー病か否かの診断を経過観察も含めて進める。
 
オスラー病（遺伝性出血性末梢血管拡張症）の診断基準
 
Ａ．症状
１．  鼻出血：自然かつ反復性に出現。
２．  末梢血管拡張症：鼻腔、眼瞼、口唇、口腔、手指などに出現する拡張性小血管病変（圧迫により退色）。
 
Ｂ．検査所見
１．  内臓病変：胃腸末梢血管拡張、肺、脳、肝、脊髄の動静脈奇形
２．  家族歴（遺伝性）：HHTと診断されている１親等の血縁者（兄弟、姉妹は１親等の血縁者に含まれる。）。
 
Ｃ．鑑別診断
以下の疾患を鑑別する。
単純性肺動静脈奇形など、遺伝性でない各臓器における単純性動静脈奇形
 
Ｄ．遺伝学的検査
ENG（Endoglin）、ACVRL1（ALK1）、SMAD4遺伝子の変異
 
＜診断のカテゴリー＞
Definite：Ａ-１、２＋Ｂ-１、２の中の３項目を満たし、Ｃの鑑別すべき疾患を除外したもの、あるいはＤを満たすもの。
Probable：Ａ-１、２＋Ｂ-１、２の中の２項目を満たし、Ｃの鑑別すべき疾患を除外したもの。
 Possible：Ａ-１、２＋Ｂ-１、２の中の１項目を満たし、Ｃの鑑別すべき疾患を除外したもの。

http://www.nanbyou.or.jp/entry/4352　参照


Incorrect Answers:

Answer 1:
Retinal hemangioblastomas are tumors of the central nervous system that originate from the vascular system.
They are often associated with Von Hippel-Lindau syndrome.

Answer 2:
Renal cell carcinoma is a kidney cancer that originates in the lining of the proximal convoluted tubule.
It is also associated with Von Hippel-Lindau syndrome.

Answer 4:
Vestibular schwannomas, also called acoustic neuromas, are benign primary tumors
of the myelin-forming cells of the vestibulocochlear nerve.
Bilateral vestibular schwannomas are associated with neurofibromatosis type II.

Answer 5:
Cafe-au-lait spots are pigmented macules that can be associated with number of different clinical syndromes
including neurofibromatosis type I, tuberous sclerosis, Noonan syndrome, and Wiskott–Aldrich syndrome.


歯科国試のBD問題での症例問題では、まだ出題はないようです。

繰り返し鼻出血
口唇、口腔粘膜の拡張性小血管病変（圧迫により退色）
家族歴

などのkey wordsを覚えておけば、解答できるでしょう。

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