Q:

What is familial acromegaly?

waelhammad
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2022-11-18
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A 45-year-old lady presents with complaints of a progressive increase in the size of hands and feet and shoe size for past 5 years. The family members have noticed a change in her facial appearance in the form of coarsening of features and her voice has become sonorous. She also has complaints of frequent headaches for past 1 year. She complains of amenorrhea for past 5 years. She also has complaints of joint pains for past 3 years which have become more severe for the past 3 months. She is hypertensive for past 1 year and complaints of grade 2 dyspnea on exertion and her hypertension is controlled on 10 mg of cilnidipine and 40 mg of telmisartan. She is not a known diabetic and has checked her random sugars 1 week back which was normal. She is not on any other medications presently (Fig. 1.1).

What is familial acromegaly?

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waelhammad
2022-11-18
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Familial acromegaly is generally diagnosed at an earlier age than nonfamilial acromegaly and young patients (<30 years old) with aggressive acromegaly, or individuals with a family member who has a pituitary tumor, should be considered for genetic screening for markers of familial acromegaly (DR). Carney complex, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 1 should be considered. An increased awareness that FIPA is associated with mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene is required.

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