Acromegaly differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Acromegaly must be differentiated from other diseases that cause acral features like skin thickening and linear bone growth. These diseases such as Marfan syndrome, McCune Albright syndrome, hyperinsulinism, pachydermoperiostosis and fragile X syndrome.

Differentiating acromegaly from other Diseases

  • Acromegaly must be differentiated from other diseases that cause acral features like skin thickening and linear bone growth. These diseases such as Marfan syndrome, precocious puberty, prolactinoma, hyperinsulinism, and pachydermoperiostosis.[1][2][3][4]
Differential Diagnosis Similar Features Differentiating Features
Prolactinoma
  • On physical examination, prolactinoma demonstrates visual field defects and diplopia as acromegaly.
  • On symptoms, prolactinoma patients complain of a headache as the acromegaly.
  • On physical examination, prolactinoma demonstrates hydrocephalus that distinguishes it from acromegaly.
  • On symptoms, patients with prolactinoma may show cerebrospinal fluid rhinorrhea.
  • On laboratory tests, prolactinoma has high level of prolactin that distinguishes it from acromegaly.
Marfan syndrome
  • On physical examination, Marfan syndrome has demonstrated cardiac manifestations as the acromegaly.
  • On physical examination, Marfan syndrome demonstrates excess linear bone growth like acromegaly.
  • On physical examination, Marfan syndrome patients have small jaws that distinguish it from acromegaly.
  • Patients with Marfan syndrome have arachnodactyly with positive thumb and wrist signs.
Precocious puberty
  • On physical examination, excess linear bone growth is noticed like the acromegaly.
  • On laboratory diagnosis, precocious puberty has demonstrated high levels of FSH, LH and testosterone that distinguish it from acromegaly.
Pachydermoperiostosis (Primary hypertrophic osteoarthropathy)
  • On physical examination, pachydermoperiostosis demonstrates thickening of skin and scalp, clubbing and arthritis like acromegaly.
  • On laboratory findings, pachydermoperiostosis has low level of the serum IGF1 which distinguishes it from acromegaly.

References

  1. Abdullah NRA, Jason WLC, Nasruddin AB (2017). "Pachydermoperiostosis: a rare mimicker of acromegaly". Endocrinol Diabetes Metab Case Rep. 2017. doi:10.1530/EDM-17-0029. PMC 5445428. PMID 28567291.
  2. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB; et al. (2010). "The revised Ghent nosology for the Marfan syndrome". J Med Genet. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. PMID 20591885.
  3. Liu JK, Couldwell WT (2004). "Contemporary management of prolactinomas". Neurosurg Focus. 16 (4): E2. PMID 15191331.
  4. Papadimitriou A, Beri D, Tsialla A, Fretzayas A, Psychou F, Nicolaidou P (2006). "Early growth acceleration in girls with idiopathic precocious puberty". J Pediatr. 149 (1): 43–6. doi:10.1016/j.jpeds.2006.02.005. PMID 16860125.

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