Pseudoacromegalic facial features in Fabry disease

Hogarth, Victoria J.; Hughes, D.A.; Orteu, Catherine H.

doi:10.1111/j.1365-2230.2012.04420.x

Cited by 11 publications

(3 citation statements)

References 9 publications

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“…In addition there was no association of OSA with cerebrovascular disease, impaired renal function or vitamin D deficiency. Likely contributors to the high incidence of OSA in Fabry disease are facial dysmorphology (Cox-Brinkman et al 2007;Ries et al 2006) including prominent nasal bridge and pseudo-acromegalic features with prognathism (Hogarth et al 2012) and possible thickening of upper airway. While pharyngeal diameters in our cohort were within the normal range, and Mallampati scores normal, the upper airways may well be less compliant, possibly contributing to snoring.…”

Section: Discussionmentioning

confidence: 99%

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

et al. 2016

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Objectives: To assess the prevalence of sleep disorder(s) in males with Fabry disease and explore possible association with disease phenotype.Background: Fabry disease, an X-linked lysosomal storage disease caused by deficiency in a-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructive lung disease, reduced diffusing capacity and thickened soft and hard palates. Patients commonly develop small-fibre sensory peripheral neuropathy manifested by acroparaesthesia and pain crises. Combined with self-reported sleep disturbance and snoring, these features suggest an increased risk of sleep disorders.Methods: In-laboratory polysomnography (PSG) studies and sleep inventory assessments, including Epworth Sleepiness Scale (ESS), were performed in a cohort of male Fabry patients. PSGs were reviewed by a sleep physician. Sleep-disordered breathing and periodic leg movements were targeted for analysis. Associations with renal, cardiovascular and cerebrovascular function were sought.Results: Twenty males underwent overnight PSG. Patient baseline characteristics included age 43.9 AE 10.7 years, BMI 24.3 AE 3.8 kg/m 2 , neck circumference 39.7 AE 3.3 cm and ESS 9.8 AE 5.1 (7/20, abnormal ESS >10). Abnormal periodic leg movement index (PLMI) was present in 95% (mean frequency 42.4 AE 28.5/min) and sleep-disordered breathing in 50% patients. Periodic leg movements were associated with pain and depression but not with increased cortical arousal.Conclusions: Sleep-disordered breathing and abnormal PLMI are highly prevalent in patients with FD.

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Section: Discussionmentioning

confidence: 99%

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

et al. 2016

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“…Lab tests performed to assess the GH/IGF-1 axis, n | 553 every pseudoacromegaly case have a normal GH/IGF-1 axis before assuming a certain condition as the cause of acromegaloid features, 56,57 as acromegaly may coexist with other pseudoacromegaly disorders, as reported in Seip-Berardinelli syndrome, 58 Tatton-Brown-Rahman syndrome, 59 pachydermoperiostosis, 60 and Klinefelter syndrome, 61 or in families with both GH-related pituitary and non-pituitary gigantism. 62 Endocrine specialists are also important to avoid erroneous diagnosis of acromegaly, [17][18][19][20] and prevent inadequate pituitary surgery in pseudoacromegaly cases with pituitary incidentalomas.…”

Section: Discussionmentioning

confidence: 99%

Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review

Marques,

Sapinho,

Korbonits

2024

Clinical Endocrinology

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ObjectivePseudoacromegaly encompasses conditions with features of acromegaly/gigantism, but no growth hormone (GH) or insulin‐like growth factor‐1 (IGF‐1) excess. We aimed to review published pseudoacromegaly cases evaluated due to clinical suspicion of acromegaly.Design/PatientsPubMed/Medline search was conducted to identify reported pseudoacromegaly cases, which were systematically reviewed to ensure they met eligibility criteria: (1) presentation suggestive of acromegaly; (2) acromegaly excluded based on normal GH, IGF‐1 and/or GH suppression on oral glucose tolerance test (OGTT‐GH); (3) diagnosis of the pseudoacromegaly condition was established. Data were retrieved from each case and analysed collectively.ResultsOf 76 cases, 47 were males, mean ages at presentation and at first acromegaloid symptoms were 28 ± 16 and 17 ± 10 years, respectively. Most common conditions were pachydermoperiostosis (47%) and insulin‐mediated pseudoacromegaly (IMP) (24%). Acromegaloid facies (75%) and acral enlargement (80%) were the most common features. Measurement of random GH was reported in 65%, IGF‐1 in 79%, OGTT‐GH in 51%. GH excess was more frequently excluded based on two tests (53%). Magnetic resonance imaging (MRI) was performed in 30 patients, with pituitary adenoma or hyperplasia being reported in eight and three patients, respectively. Investigations differed between cases managed by endocrine and non‐endocrine specialists, the former requesting more often IGF‐1, OGTT‐GH and pituitary MRI.ConclusionsPseudoacromegaly is a challenging entity that may be encountered by endocrinologists. Pachydermoperiostosis and IMP are the conditions most often mimicking acromegaly. Adequate assessment of GH/IGF‐1 is crucial to exclude acromegaly, which may be better performed by endocrinologists. Pituitary incidentalomas are common and require careful judgement to prevent unnecessary pituitary surgery.

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“…I pazienti con assenza di attività enzimatica residua possono presentare dismorfismo facciale, anche se esso non rappresenta un segno clinico prominente. La faccia pseudo-acromegalica, chiamata "faccia Anderson-Fabry", si caratterizza per la fronte a incasso, creste sopraorbitarie prominenti, cisti a carico dei seni mascellari, prognatismo, labbra carnose, piramide nasale globosa con base ampia, padiglioni auricolari ispessiti e retroruotati (14).…”

Section: Dismorfismo Faccialeunclassified

Dermatological manifestations of Anderson-Fabry disease

Pistone

Gurreri

Bongiorno

2017

Giornale di Tecniche Nefrologiche e Dialitiche

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Dermatological manifestations are an important feature of Fabry disease and include angiokeratomas, telangiectases, lymphedema, anhidrosis or hypohidrosis, and a pseudo-acromegalic facial appearance. Recognition of these symptoms is vital for the early diagnosis and treatment of Fabry disease. It is therefore important that dermatologists as well as other specialists are aware of these manifestations. The currently used causal treatment for Fabry disease is enzyme replacement therapy. Dermatologists play a key role, since cutaneous manifestations may lead to the diagnosis. This may aid in early therapeutic intervention, reducing both morbidity and mortality.

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Pseudoacromegalic facial features in Fabry disease

Cited by 11 publications

References 9 publications

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review

Dermatological manifestations of Anderson-Fabry disease

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