Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease.

Autor: van Velsen EFS; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Dr. Molewaterplein 40, 3015 CE, Rotterdam, the Netherlands; Erasmus MC Bone Center, Erasmus Medical Center, University Medical Center, Dr. Molewaterplein 40, 3015 CE, Rotterdam, the Netherlands. Electronic address: e.vanvelsen@erasmusmc.nl., Zervou Z; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Dr. Molewaterplein 40, 3015 CE, Rotterdam, the Netherlands; Erasmus MC Bone Center, Erasmus Medical Center, University Medical Center, Dr. Molewaterplein 40, 3015 CE, Rotterdam, the Netherlands. Electronic address: z.zervou@erasmusmc.nl., Zillikens MC; Department of Internal Medicine, Erasmus Medical Center, University Medical Center, Dr. Molewaterplein 40, 3015 CE, Rotterdam, the Netherlands; Erasmus MC Bone Center, Erasmus Medical Center, University Medical Center, Dr. Molewaterplein 40, 3015 CE, Rotterdam, the Netherlands. Electronic address: m.c.zillikens@erasmusmc.nl.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2023 Nov; Vol. 66 (11), pp. 104866. Date of Electronic Publication: 2023 Oct 13.
DOI: 10.1016/j.ejmg.2023.104866
Abstrakt: Background: Hypophosphatasia (HPP) is a rare inherited disorder caused by pathogenic loss-of-function variants in the ALPL gene, encoding the tissue-nonspecific isoenzym of alkaline phosphatase (ALP; TNSALP). Low serum ALP is the biochemical hallmark of HPP, but it is unknown whether ALP levels can increase due to concurring liver disease, which may lead to a missed diagnose of HPP. We present a patient with genetically confirmed HPP, who showed a transient increase of serum ALP levels due to alcohol-induced hepatitis.
Clinical Report: A 71-year old man was seen at our Bone Center for surveillance of HPP. Serum ALP was always low (23 U/L; reference value: <115 U/L). During follow-up, his serum ALP increased (156 U/L, further rising to 204 U/L), with concomitantly elevated serum gamma-glutamyl transferase and transaminases, and a rise in bone specific ALP (18.7 μg/L; reference value: 5.7-32.9 μg/L). This was attributed to alcohol-induced hepatitis. After refraining from alcohol intake, both serum ALP and bone specific ALP levels returned to initial low levels (30 U/L and 4.3 μg/L respectively).
Conclusions: We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.
(Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Databáze: MEDLINE
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