Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach

Background: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their comple...

Full description

Saved in:
Bibliographic Details
Main Authors: Cristina Claudia Tarniceriu, Loredana Liliana Hurjui, Daniela Maria Tanase, Anca Haisan, Razvan Tudor Tepordei, Gabriel Statescu, Simona Alice Partene Vicoleanu, Ancuta Lupu, Vasile Valeriu Lupu, Manuela Ursaru, Alin Horatiu Nedelcu
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Life
Subjects:
Online Access:https://www.mdpi.com/2075-1729/15/4/530
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850180531451330560
author Cristina Claudia Tarniceriu
Loredana Liliana Hurjui
Daniela Maria Tanase
Anca Haisan
Razvan Tudor Tepordei
Gabriel Statescu
Simona Alice Partene Vicoleanu
Ancuta Lupu
Vasile Valeriu Lupu
Manuela Ursaru
Alin Horatiu Nedelcu
author_facet Cristina Claudia Tarniceriu
Loredana Liliana Hurjui
Daniela Maria Tanase
Anca Haisan
Razvan Tudor Tepordei
Gabriel Statescu
Simona Alice Partene Vicoleanu
Ancuta Lupu
Vasile Valeriu Lupu
Manuela Ursaru
Alin Horatiu Nedelcu
author_sort Cristina Claudia Tarniceriu
collection DOAJ
description Background: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their complex nature. The primary objectives of the paper are to determine the prevalence of hemophilic arthropathy among individuals with hemophilia in the northeastern region of Romania, identify the most frequently affected joints, and assess whether there is a correlation between the development of hemophilic arthropathy, the type of hemophilia, and the treatment received. The secondary objectives of the work are to identify a series of particularities regarding the occurrence of the comorbidities depending on the type of hemophilia and the treatment and severity of arthropathies. Materials and Methods: We conducted a retrospective study that included 36 adults with hemophilia A and B. The status of the osteoarticular system was evaluated using the modified Hemophilia Joint Health Score (mHJHS). Twelve joints were evaluated using the following parameters: swelling, duration of swelling, muscle atrophy, joint pain, crepitus on motion, flexion loss, and extension loss. Results and Discussions: The most severe damage was found in the joints of the knees, ankles, elbows, and wrists. In the knees, severe damage was noted significantly more frequently in the right knee (50% vs. 33.3%; <i>p</i> = 0.001). In the ankles, a higher frequency of mild damage to the left ankle was noted (44.4% vs. 27.8%; <i>p</i> = 0.002). The severe form of hemophilia was correlated with severe joint damage (<i>p</i> < 0.05). Comorbidities like cardiovascular disease, obesity, viral infection (HCV infection), and gastrointestinal disease were found in the hemophilia population of our study. All patients with HCV infection had severe joint damage, while 38.5% of patients without HCV infection had mild joint damage, and 30.8% had no joint damage (<i>p</i> = 0.001). In all patients with HCV virus infection, the treatment was short-term substitution (intermittent prophylaxis), while in 53.8% of patients without HCV virus infection, the treatment consisted of continuous prophylaxis (<i>p</i> = 0.001). Conclusions: It is currently essential to determine methods for comprehensive hemophilia care that involves multidisciplinary medical services necessary for the diagnosis, treatment, and management of the condition and its complications and comorbidities.
format Article
id doaj-art-b1a0e8d5de3840878f27ed83020141bf
institution OA Journals
issn 2075-1729
language English
publishDate 2025-03-01
publisher MDPI AG
record_format Article
series Life
spelling doaj-art-b1a0e8d5de3840878f27ed83020141bf2025-08-20T02:18:09ZengMDPI AGLife2075-17292025-03-0115453010.3390/life15040530Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary ApproachCristina Claudia Tarniceriu0Loredana Liliana Hurjui1Daniela Maria Tanase2Anca Haisan3Razvan Tudor Tepordei4Gabriel Statescu5Simona Alice Partene Vicoleanu6Ancuta Lupu7Vasile Valeriu Lupu8Manuela Ursaru9Alin Horatiu Nedelcu10Department of Morpho-Functional Science I, Discipline of Anatomy, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Morpho-Functional Science II, Discipline of Physiology, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Internal Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Emergency Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Morpho-Functional Science I, Discipline of Anatomy, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Morpho-Functional Science I, Discipline of Anatomy, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Morpho-Functional Science I, Discipline of Anatomy, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Mother and Child, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Surgical Sciences I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Surgical Sciences I, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaDepartment of Morpho-Functional Science I, Discipline of Anatomy, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, RomaniaBackground: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their complex nature. The primary objectives of the paper are to determine the prevalence of hemophilic arthropathy among individuals with hemophilia in the northeastern region of Romania, identify the most frequently affected joints, and assess whether there is a correlation between the development of hemophilic arthropathy, the type of hemophilia, and the treatment received. The secondary objectives of the work are to identify a series of particularities regarding the occurrence of the comorbidities depending on the type of hemophilia and the treatment and severity of arthropathies. Materials and Methods: We conducted a retrospective study that included 36 adults with hemophilia A and B. The status of the osteoarticular system was evaluated using the modified Hemophilia Joint Health Score (mHJHS). Twelve joints were evaluated using the following parameters: swelling, duration of swelling, muscle atrophy, joint pain, crepitus on motion, flexion loss, and extension loss. Results and Discussions: The most severe damage was found in the joints of the knees, ankles, elbows, and wrists. In the knees, severe damage was noted significantly more frequently in the right knee (50% vs. 33.3%; <i>p</i> = 0.001). In the ankles, a higher frequency of mild damage to the left ankle was noted (44.4% vs. 27.8%; <i>p</i> = 0.002). The severe form of hemophilia was correlated with severe joint damage (<i>p</i> < 0.05). Comorbidities like cardiovascular disease, obesity, viral infection (HCV infection), and gastrointestinal disease were found in the hemophilia population of our study. All patients with HCV infection had severe joint damage, while 38.5% of patients without HCV infection had mild joint damage, and 30.8% had no joint damage (<i>p</i> = 0.001). In all patients with HCV virus infection, the treatment was short-term substitution (intermittent prophylaxis), while in 53.8% of patients without HCV virus infection, the treatment consisted of continuous prophylaxis (<i>p</i> = 0.001). Conclusions: It is currently essential to determine methods for comprehensive hemophilia care that involves multidisciplinary medical services necessary for the diagnosis, treatment, and management of the condition and its complications and comorbidities.https://www.mdpi.com/2075-1729/15/4/530hemophiliaarthropathiescomorbiditiesjoint damageHCV infection
spellingShingle Cristina Claudia Tarniceriu
Loredana Liliana Hurjui
Daniela Maria Tanase
Anca Haisan
Razvan Tudor Tepordei
Gabriel Statescu
Simona Alice Partene Vicoleanu
Ancuta Lupu
Vasile Valeriu Lupu
Manuela Ursaru
Alin Horatiu Nedelcu
Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
Life
hemophilia
arthropathies
comorbidities
joint damage
HCV infection
title Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
title_full Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
title_fullStr Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
title_full_unstemmed Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
title_short Inherited Hemophilia—A Multidimensional Chronic Disease That Requires a Multidisciplinary Approach
title_sort inherited hemophilia a multidimensional chronic disease that requires a multidisciplinary approach
topic hemophilia
arthropathies
comorbidities
joint damage
HCV infection
url https://www.mdpi.com/2075-1729/15/4/530
work_keys_str_mv AT cristinaclaudiatarniceriu inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT loredanalilianahurjui inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT danielamariatanase inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT ancahaisan inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT razvantudortepordei inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT gabrielstatescu inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT simonaalicepartenevicoleanu inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT ancutalupu inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT vasilevaleriulupu inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT manuelaursaru inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach
AT alinhoratiunedelcu inheritedhemophiliaamultidimensionalchronicdiseasethatrequiresamultidisciplinaryapproach