A comprehensive literature review of Wilson Disease in Africa

Abstract

Background

Wilson Disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, which disrupts copper metabolism and leads to toxic accumulation in the liver and brain. Globally, its incidence is estimated at 1 in 30,000, though consanguinity can increase prevalence in certain regions. In Africa, WD remains underdiagnosed due to limited diagnostic capacity and awareness, with most reported cases concentrated in North Africa.

Methods

This narrative review synthesizes literature on WD epidemiology, diagnosis, and genetics in Africa, focusing on data from countries with published studies such as Morocco and Egypt. Information on clinical presentation, diagnostic criteria (Leipzig scoring, Kayser-Fleischer rings), and genetic profiles was compiled from peer-reviewed articles and case reports.

Conclusion

WD is a significant but often overlooked genetic disorder in Africa, where diagnostic challenges and low awareness contribute to underreporting. Available data, primarily from Northern Africa, show a high frequency of consanguinity-related cases and distinct ATP7B mutation patterns. Improved clinical recognition, accessible diagnostic tools, and genetic counseling are essential to enhance early detection and lifelong management of WD across the continent.

Highlights

• •Wilson disease remains underdiagnosed across Africa.
• •Most African Wilson disease data come from North African countries.
• •Consanguinity may contribute to Wilson disease burden in Africa.
• •Distinct ATP7B mutation patterns have been reported in Africa.
• •Improved diagnosis and genetic counseling are needed across Africa.

1. Introduction

Wilson disease (WD) is a genetic disorder affecting copper metabolism [1]. It results from homozygous or compound heterozygous mutations in the ATP7B gene, which encodes the transmembrane copper-transporting ATPase 2 (commonly known as ATP7B). This protein is responsible for excreting copper into bile and facilitating the incorporation of copper into ceruloplasmin, the primary copper-transporting protein in the bloodstream [2]. This is an autosomal recessive hereditary condition that damages the liver and causes varied degrees of neurological disorders by upsetting the copper balance [3]. The ATP7B gene is quite large and is located on the long arm of chromosome 13 (13q14–q21) [4]. At least 800 different disease-causing mutations in the ATP7B gene have been identified to far. These mutations are characterized by a large range of uncommon mutations and a few hotspot mutations, with clear geographical and ethnic variations [5].

WD has a global incidence of approximately one in 30,000 people, with higher rates observed in populations with consanguinity. The gene frequency among healthy individuals is about one in 90 [6]. Patients with WD exhibit an equal preference for males and females. Geographically, the incidence of WD varies, with Asians appearing to have a higher prevalence than Caucasians [7]. However, because of their greater consanguinity within the nation, Costa Rica has the highest prevalence of WD in the world, with a rate of 4.9/100000 residents [8]. People between the ages of three and forty who exhibit unexplained hepatic, neurological, or psychiatric symptoms should be suspected of WD. It is noteworthy, though, that individuals in their 50s, 60s, and even 70s have been found to have rare occurrences [9].

WD is characterized by a variety of clinical problems, the most common of which are liver disease and neuropsychiatric disorders. No clinical signs are definitive or diagnostic, and each patient with WD is unique. A key feature of the disease is the presence of Kayser–Fleischer rings, seen in 95% of patients with neurological symptoms, 50–60% of those without neurological symptoms, and 10% of asymptomatic siblings. The most prevalent manifestation is liver disease, which usually manifests between the ages of 8 and 18, though cirrhosis can strike children younger than five. Chronic liver disease may appear years before neurological symptoms if left untreated. Asymptomatic transaminasemia, acute or chronic hepatitis, fulminant hepatic failure, and cirrhosis are among the liver disorders that can be seen [10]. It is crucial to rule out WD in children or young adults who exhibit unusual extrapyramidal or cerebellar motor disorders, atypical psychiatric conditions, unexplained hemolysis, hepatomegaly, elevated liver enzyme levels, or other signs of liver disease, regardless of family history. Failing to do so may lead to avoidable and premature deaths [11].

The diagnosis of WD can be established through a combination of clinical and biochemical tests. In practice, several tests may be conducted to confirm WD. These tests can be used to generate a score that helps clinicians decide whether further testing is necessary or if the diagnosis is confirmed. The diagnosis is confirmed if the score is 4 or above. An alternate diagnosis should be taken into consideration if, following the completion of all tests, the score is less than 4. This rating system was created in 2001 during a consensus meeting of worldwide experts in Leipzig, Germany (Leipzig scoring for Wilson illness) [12], and has been validated for both adult and pediatric patients [13], [14]. Clinical markers (Kayser-Fleischer rings, neurologic symptoms), liver biopsy (total liver copper level), and laboratory aspects (copper in urine, and liver; serum ceruloplasmin; hemolytic anemia; genetic tests) are all included in this grading system. The diagnosis of WD is improbable if the total score is 2 or lower, feasible if it is 3, and established if it is 4 or higher [15].

WD is likely significantly underreported across Africa due to limited access to diagnostic tools such as serum ceruloplasmin, twenty-four hour urinary copper, slit-lamp examination, and genetic testing, which remain largely unavailable outside major referral centers. This underdiagnosis is compounded by low clinical awareness, as WD presentations are frequently misattributed to more common conditions including viral hepatitis, cryptogenic cirrhosis, and Parkinsonian syndromes. The existing literature shows marked geographic disparity, with most published cases and genetic studies originating from North Africa where better diagnostic infrastructure exists. Sub-Saharan Africa has contributed only isolated case reports from a handful of countries, while most of the continent has no published WD data whatsoever. This review therefore synthesizes available African data on WD epidemiology, clinical presentations, and genetics, while examining underlying causes of underreporting and proposing strategies for improved detection across the continent.

2. Methodology

We conducted a search for published articles on WD using Google Scholar, PubMed, Embase, and Web of Science with search terms such as “Wilson* Disease[Title] OR Hepatolenticular Degeneration [MeSH Terms] AND Africa.” Manual searches were additionally performed for each African country to identify articles not found in the main databases. All freely accessible publications detailing WD were included. The search was conducted from August to September 2025, covering all relevant literature published up to 2025. Fig. 1. The Figure below shows Literature Search & Retrieval Flowchart.

Fig. 1.

Literature search and data synthesis workflow for identifying, screening, retrieving, processing, and synthesizing evidence on Wilson disease in Africa

2.1. Epidemiology

Most of the reported studies on WD have been conducted in Northern Africa, particularly in Morocco and Egypt [16], [17], [18], [19]. This can be explained by their advanced medical infrastructure and diagnostic facilities, allowing for better detection and reporting of the disease [20]. Moreover, both Morocco and Egypt have higher rates of consanguineous marriages, which increases the prevalence of genetic disorders like WD [17], [18], [21], [22]. There is more research and awareness about WD in these countries, leading to higher reporting rates [23]. This is followed by studies from Eastern African countries [24] and Nigeria in West Africa [25]. The rest were reported from Algeria [26], Tunisia [27], Senegal [28], and South Africa [29]. In many African countries, WD may be mistakenly viewed as a rare and neglected condition. This misconception likely stems from a lack of awareness among physicians about its diverse clinical manifestations, as well as the unavailability of diagnostic tools and treatments. Consequently, these factors hinder access to proper care and management for patients with WD [20]. Access to standard diagnostic tests for WD is severely limited across much of Africa. Slit-lamp examination for Kayser-Fleischer rings, serum ceruloplasmin assays, and 24-h urinary copper excretion measurements are typically available only at tertiary-level health facilities, and even there, availability is inconsistent. Liver biopsy may be performed in some research or teaching hospital settings; however, hepatic copper quantification and genetic testing for ATP7B mutations are rarely undertaken anywhere on the continent due to the prohibitive cost of equipment, reagents, and technical expertise required [30], [31].

2.2. Clinical presentations

Abnormal copper deposition in WD affects multiple organs, producing a wide spectrum of clinical symptoms that depend on the pattern and progression of organ involvement [1], [32], [33], [34], [35]. Liver disease is the initial clinical sign in about 40–60% of WD patients, though it can be accompanied by other symptoms [1], [36]. Without a clear genotype-phenotype correlation, the symptoms and severity of the disease can vary among different patients and even within the same family [37]. Consequently, the clinical presentation of WD with liver involvement can range widely, from asymptomatic subtle liver changes and mild acute self-limited hepatitis-like illness to severe hepatitis, recurrent jaundice (especially with hemolysis), cirrhosis with or without portal hypertension, and even acute liver failure [38]. Following liver-related symptoms, neurological issues are the next most common clinical signs of WD. Neurological symptoms initially appear in 18–68% of patients, depending on the referral center, with the average age of onset being 20–30 years [39]. However, cases have been reported in patients as young as 6 and as old as 72 [32]. The primary range of neurological symptoms includes various movement disorders, characterized by a wide array of involuntary movements that often overlap [1], [32]. Abnormal copper buildup in the eyes can lead to ophthalmological signs of WD, such as the Kayser-Fleischer ring and sunflower cataract [40].

A retrospective study of 46 pediatric patients under 18 years old, conducted in Morocco from 2008 to 2019, revealed that 22 of the patients exhibited neurological and neuropsychiatric symptoms [41]. Dysarthria was the most common neurological symptom, affecting 15 individuals (68.2%). Gait disturbances were also prevalent, seen in 12 cases. Tremor was an initial symptom in 50% (11 cases), while dystonia was present in nine patients (40.9%), and one patient exhibited Parkinsonian syndrome. Psychiatric symptoms were observed in 10 patients, including personality disorders (8 cases), depression (7 cases), and hallucinations (1 case). Of the 20 cases having only hepatic manifestations, 12 patients had a chronic liver disease and eight patients had fulminant hepatic failure. Among the 46 patients, four were asymptomatic, consisting of two girls and two boys [41]. Similarly, study in the same country by Karima found that the most common manifestations of patients with WD were Cholestatic jaundice, liver cell insufficiency, hepatosplenomegaly, eye involvement, and progressive neuroregression with behavioral issues [23]. In another case report by Hicham, a 12-year-old presented with tongue tremor and dysarthria, and was ultimately diagnosed with WD through biochemical tests and imaging [19]. Meanwhile, a retrospective study of 226 patients with WD revealed that 114 patients (50.4%; 53 males and 61 females) exhibited hepatic symptoms, while 82 patients (36.3%, 36 males and 46 females) presented with neurological symptoms [42]. A retrospective study conducted over thirteen years at a single Egyptian hepatology unit, involving 54 WD patients, found that 33 patients (61%) had hepatic presentations, 3 patients (5.5%) had hepato-neurologic symptoms, 5 patients (9.3%) had neurological symptoms, and 13 patients (24%) were presymptomatic [22].

The first published case report on WD in Ethiopia described a nine-year-old child with prolonged hepatic symptoms, including yellowish discoloration of the eyes and anorexia [43]. A Senegalese case series of seven patients reported mainly various forms of neurologic manifestation followed by hepatic manifestation [28]. Writing difficulty due to tremor was noted in one of the oldest case reports from Nigeria. On physical examination, it was noted that the tremor was most pronounced in the shoulders and elbows, causing her fists to beat against her chest in a “wing-beating” pattern [44]. Meanwhile, a case report from Ethiopia described two sisters diagnosed with WD who experienced prolonged neurological symptoms, such as slurred speech and gait disturbances. Notably, neither sister exhibited any hepatic symptoms [24]. Other reports from different part of Africa support the neurologic and neuropsychiatric predominance [45], [46], [47]. Conversely, in an eight year old boy from Nigeria hepatic manifestations were the predominant feature though the neurologic signs appeared after two of admission [25] (Table 1).

Table 1.

Clinical Characteristics and Outcomes of WD in Africa.

Authors	Year	Country	Types of article	population	Age	Sex	Comorbidity	Drugs used	Outcome
[26]	2022	Algeria	Case report	Pediatrics	12	M	SLE	Copper chelating agent	–
[43]	2018	Ethiopia	Case report	Pediatrics	9	M	–	Zinc salts	Improved
[24]	2020	Ethiopia	Case report	Adult(two siblings)	22 25	F	–	D-penicillamine Zinc sulphate	–
[46]	2023	Sudan	Case report	Adult	27	F	Autoimmune hepatitis	D-penicillamine	Improved
[45]	2021	Sudan	Case report	Pediatrics	11	F	–	D-penicillamine	Died
[27]	2013	Tunisia	Case report	Adult	24	M	Infertility	D-penicillamine	–
[25]	2012	Nigeria	Case report	Pediatrics	8	M	–	Vitamin k, antibiotics, Zinc salts	Improved
[44]	1982	Nigeria	Case report	Pediatrics	15	F	–	Sedatives	–
[23]	2023	Morocco	Genetic analyis	Mixed	–	Both	–	–	–
[41]	2022	Morocco	Case series	Pediatrics		Both	–	D-penicillamine Zinc salts	Improved, Died (38%)
[48]	2021	Morocco	Case series(three siblings)	Pediatrics	16, 13,9	–	–	D-penicillamine	Improved
[49]	2023	Morocco	Genetic analysis	Pediatrics	15,15,8,7	both	–	–	–
[18]	2024	Morocco	Retrospective case series	Pediatrics		14 boys, 10 girls	–	D-penicillamine zinc acetate Diuretics	5 death
[19]	2019	Morocco	Case report	Pediatrics	12	F	–	D-penicillamine	Improved
[42]	2024	Morocco	Retrospective cases	Mixed (226)		Both	–	D-penicillamine Zinc acetate	72 died
[22]	2011	Egypt	Retrospective cases	Pediatrics (54)		Both	–	D-penicillamine Zinc sulphate	8 death
[21]	2014	Egypt	Mutation analysis	Mixed		Both		–	–
[16]	2008	Egypt	Mutation analysis	Pediatrics (48)	28 boys, 20 girls	Both	–	–	–
[17]	2011	Egypt	Retrospective case study	Mixed (77)		Both	–	D-penicillamine Zinc sulphate	16 died

SLE: Systemic Lupus Erythematosus.

2.3. Wilson disease and consanguinity

The incidence of WD is higher (1 in 3000 to 10,000) in communities with a high prevalence of consanguineous marriages, such as the Druze, Yemenite, Iranian Jews, and Palestinians [50]. A case report from Morocco revealed that three siblings from a first-degree intra-familial marriage exhibited all four clinical forms of WD: psychiatric, neurological, ophthalmological, and hepatic [48]. Data from Morocco, spanning individual case reports to large cohorts of up to 226 patients, consistently reveal a high prevalence of parental relatedness among WD patients, ranging from 54% to 63.3%, with 94 parents (53.7%) being first-degree cousins [18], [42]. In Egypt, 75% of the families of 48 patients with WD exhibited parental relatedness [16].

2.4. Diagnosis

2.4.1. Clinical and biochemical standards

The diagnosis of WD has traditionally relied on clinical history and biochemical assessments. Clinical indicators such as Kayser-Fleischer (KF) rings, cirrhosis, and neurological or psychiatric symptoms can be used to identify WD, though it can be challenging when only one or two symptoms are present. Biochemical tests, including serum copper, serum ceruloplasmin, liver enzymes, urine copper excretion, hepatic copper quantitation, and genetic testing (if available), are also useful but have their limitations [51]. The Leipzig score, detailed in the introduction, integrates these findings to enhance diagnostic precision [52] (Table 2).

Table 2.

Leipzig Score Criteria for Wilson Disease.

Category	Points	Total Score Interpretation
Typical Clinical Symptoms
Kayser-Fleischer rings	+2	Score	Interpretation
Typical neurological symptoms	+2	≥ 4	Confirmed
Atypical neurological symptoms	+1
Biochemical tests
24 h urine copper >100 μg	+2
24 h urine copper 40–100 μg	+1	3	Probable
Serum Ceruloplasmin <0.1 g/L	+2
Serum Ceruloplasmin 0.1–0.2 g/L	+1
Liver copper >250 μg/g	+1
Hemolysis present	+1	≤ 2	Unlikely
Genetic Analysis
Two mutations detected	+4
One mutation detected	+1

2.4.2. Imaging findings

Imaging techniques like Magnetic Resonance Imaging (MRI) of the brain can be beneficial if abnormalities are detected in the basal ganglia. Early diagnosis is crucial to prevent long-term complications, and recent advancements in diagnostic imaging and genetic testing have been valuable in diagnosing WD [53]. The most frequent initial MRI abnormality in patients with WD is high T1 signal intensity in the globus pallidus, putamen, and mesencephalon, often linked with hepatic dysfunction. For patients with neurological symptoms, high T2 signal intensity in the striatum is commonly observed [54], [55], [56], [57], [58]. Axial T2-weighted MRI images show bilateral hyperintensities in the brainstem, thalamus, and basal ganglia in some WD cases. The midbrain also has a “face of the giant panda” look [24]. Unfortunately, many individuals still receive a delayed diagnosis of WD despite the availability of clinical, biochemical, and genetic tests [59].

2.4.3. Regional application of criteria

In a retrospective study conducted at Cairo University's pediatric hospital, the diagnosis of WD in probands was based on the presence of liver disease and at least two of the following criteria: a positive family history, low serum ceruloplasmin levels, elevated liver copper content (>250 μg/g dry weight), increased baseline 24-h urinary copper excretion (>60 μg/24 h), heightened 24-h urinary copper excretion after administering two 500-mg doses of penicillamine (>1600 μg/24 h), the presence of Kayser-Fleischer (KF) rings, and Coombs' negative hemolytic anemia [22]. Similarly, all patients enrolled in the study at Mohammed VI University Hospital in Marrakech met the clinical diagnostic criteria for WD, achieving a score of greater than 4 on the scoring system established at the 8th International Meeting on WD in Leipzig, 2001 [23]. It should be noted, however, that the routine use of the D-penicillamine challenge test varies across international guidelines, and some authorities do not recommend its routine use, particularly in pediatric populations, due to concerns about potential adverse effects and variable diagnostic performance [32], [53].

2.5. Genetics and molecular landscape

WD is caused by mutations in the ATP7B gene, located on chromosome 13q14.3. This gene comprises 21 exons and 20 introns, spanning a total genomic length of 80 kb. It encodes a copper-transporting ATPase type P protein, which consists of 1465 amino acids. The protein is initially synthesized in the endoplasmic reticulum (ER) and subsequently transported to the Golgi apparatus in liver cells (hepatocytes) [60]. Over 800 pathogenic variants in the ATP7B gene have been discovered [5]. The most frequent types are single-nucleotide missense and nonsense mutations, followed by insertions/deletions and splice site mutations [61]. Additionally, rare genetic mechanisms reported in the literature include whole-exon deletions, promoter region mutations, the presence of three concurrent pathogenic variants, and uniparental disomy [1], [62]. Next-generation sequencing in four Moroccan families with WD identified four known pathogenic ATP7B variants in the patients. For WD-Patient 1, a compound heterozygous variant was found: a splicing site variant c.3244-2 A > G in exon 15 and a frameshift variant c.3664delG (p.Asp1222fs) in exon 17. Segregation analysis showed that her father and mother were heterozygous for c.3664delG and c.3244-2 A > G, respectively. WD-patient 2 had a homozygous missense variant c.2507G > A (p.Gly836Glu) in exon 10. WD-patient 3 had a homozygous nonsense variant c.865C > T (p.Gln289Ter) in exon 2. WD -patient 4 had a homozygous missense variant c.3059 A > G (p.Lys1020Arg) in exon 13 [49]. A mutational analysis of the ATP7B gene in 48 Egyptian children (28 boys and 20 girls) with WD from 32 independent families revealed 31 different mutations across 96 chromosomes. These included 19 missense mutations, three nonsense mutations, seven frameshift deletions, and two splice-site mutations. Among these, 12 were novel mutations, comprising five missense mutations, two nonsense mutations, four frameshift deletions, and one splice-site mutation. It strongly implies that 42 out of 48 (87.5%) had both mutations identified (homozygous), and the remaining 6 out of 48 (12.5%) had only one mutation identified (heterozygous) [16]. A study on genetic variations in the ATP7B gene, focusing on exons 13, 14, 18, and 19 and their intronic boundaries, involved 19 Egyptian patients with WD from 15 families. Variants were found in 12 of the 19 patients, while seven patients showed no changes in the sequencing of the selected exons. A total of five variants were identified, including two novel variants in exon 14 (p.T1076I and p.A1074A). Another known mutation (p.H1069Q) was also found in exon 14. The remaining two known variants were detected in exons 13 and 18. No variants were found in exon 19 [21]. A mutational assessment of the ATP7B gene in 12 Moroccan patients with WD revealed that 10 patients had homozygous mutations, while two patients showed no mutations in the promoter and exonic regions of the ATP7B gene. Most of the detected mutations were missense mutations (p.Gly836Glu, p.T1232P, and p.C1104R), found in four patients. Additionally, one nonsense mutation (p.Q289X) was identified in two patients, one splice mutation (c.51 + 4 A > T) in another two patients, and one frameshift mutation (p.E583Rfs*25) in two patients [23].

2.6. Management

The appropriate approach to managing WD involves several key steps: first, early diagnosis and prompt initiation of treatment; second, careful and lifelong monitoring of patient compliance and strict adherence to the treatment regimen; and finally, screening for adverse effects and assessing the effectiveness of the treatment [32], [63], [64]. Maintaining a negative copper balance is an important goal in managing WD. Patients should avoid foods high in copper, such as liver, chocolate, nuts, and seafood (especially lobster), and should drink water that is low in copper [65]. In 2012, the European Association for the Study of the Liver (EASL) published recommendations for WD therapy [32]. These were followed a decade later by the 2022 Clinical Practice Guidance from the American Association for the Study of Liver Diseases (AASLD), which built upon the EASL framework while offering an independent, multidisciplinary approach to diagnosis and management [64]. Limited access to essential drugs, including copper chelators like D-penicillamine, poses a significant challenge for WD management in many parts of Africa. In response, zinc therapy has emerged as a cost-effective and widely used alternative for treating symptomatic patients. Evidence from Nigeria suggests that this approach can be a successful and practical strategy in such resource-constrained environments [25]. The availability of copper chelating agents, such as D-penicillamine and trientine, is often confined to Northern Africa, where more advanced laboratory infrastructure supports the diagnosis and reporting of individual cases. This geographical disparity significantly hinders early screening and effective management of WD across the majority of African countries [42]. The studies from Morocco and Egypt, where diagnostic and treatment infrastructure is more developed, often report on patient compliance within the controlled setting of a specialized clinic. However, these reports likely do not reflect the broader African reality. Data on long-term adherence outside of major teaching hospitals is virtually nonexistent. The psychological burden of a lifelong disease, coupled with a lack of family education and support systems in many cultures, likely contributes to non-adherence, but this remains an under-researched area [20], [22], [23], [25]. Experts stressed that treatment should be lifelong, as stopping therapy can result in severe consequences, including death within a short period. The only valid reason for discontinuing therapy is liver transplantation, which can cure the disease since the biochemical defects of WD are located within hepatocytes [66]. Most published articles in Africa have utilized the same algorithm for managing cases of WD [22], [23], [24], [25], [43]. While liver transplantation remains the definitive cure for WD, experience within Africa is largely confined to a single high-volume center in South Africa, which has performed close to 300 pediatric transplants over a 17-year period, with half of those utilizing living donors [67]. Liver transplantation for WD in North Africa is documented in Egypt, where three patients underwent transplantation at Cairo University Pediatric Hospital (1996–2009), and a separate case report describes successful transplantation after plasmapheresis bridging for fulminant WD [22], [68]. In Morocco, WD is the leading cause of pediatric cirrhosis, and transplantation is considered in management algorithms for end-stage disease, though outcome data remain limited [48], [69] (Fig. 1, Fig. 2, Fig. 3).

Fig. 2.

A flowchart showing the management algorithm of Wilson disease (This flow chart were made using Mermaid ai).

Fig. 3.

Diagnostic and management challenges of Wilson disease in Africa (This flow chart were made using Mermaid ai).

3. Conclusion

WD is a genetic disorder that significantly impacts copper metabolism, leading to severe liver and neurological complications. Despite its global incidence, the disease remains profoundly underreported across Africa due to limited diagnostic facilities, low clinical awareness, and insufficient medical infrastructure. The available data, concentrated primarily in Northern African countries like Morocco and Egypt, reflect both the higher prevalence of consanguineous marriages in these regions and the presence of better-established diagnostic centers. Clinical presentation across the continent varies widely, with liver disease as the most common initial manifestation, followed by neurological and psychiatric symptoms. Management of WD requires lifelong treatment with copper-chelating agents, dietary copper restriction, careful monitoring of compliance, and regular screening for adverse effects. However, translating this treatment framework into practice across Africa demands context-specific strategies.

Every African child with unexplained hepatomegaly, elevated transaminases, or acute liver failure warrants immediate consideration of Wilson Disease regardless of family history as this single diagnostic suspicion can be the difference between life and premature death. Achieving this requires several urgent actions. Firstly, mandatory family screening must become standard practice for every newly diagnosed index case. Given the autosomal recessive nature of WD and the high rates of consanguinity in many African communities, screening siblings can identify presymptomatic individuals and prevent irreversible organ damage through early treatment initiation. This simple, low-cost intervention has the potential to save more lives than any other single action. Second, WD awareness and diagnostic skills should be integrated into existing hepatology and neurology training programs, particularly in Sub-Saharan Africa where published data are scarcest. Incorporating WD into the differential diagnosis for unexplained liver disease or movement disorders in young patients should be emphasized during postgraduate medical education. Finally, the stark disparity between Northern and Sub-Saharan Africa in reported cases and research output underscores an urgent need for regional collaboration. Established centers of excellence in countries like Egypt and Morocco possess diagnostic capabilities including genetic testing for ATP7B mutations that remain unavailable across most of the continent. Creating formal or informal referral pathways, telemedicine partnerships, and shared genetic registries could bridge this gap, enabling patients from resource-limited settings to benefit from expertise available elsewhere in Africa.

Addressing these challenges through targeted public health interventions, regional cooperation, and a renewed focus on family-based screening will be essential to improving early detection, treatment outcomes, and long-term survival for WD patients across the continent.

4. Limitations of the study

This review has several limitations that should be acknowledged. First, the literature search was restricted to freely accessible articles available through major databases including Google Scholar, PubMed, Web of Science, and Embase. Articles requiring payment for full-text access were excluded, which may have resulted in the omission of relevant studies. Second, some of the included articles lacked complete bibliographic information, such as Digital Object Identifier (DOI) numbers, necessitating manual insertion of missing details, which carries the potential for inaccuracies. Third, despite comprehensive search efforts, we were unable to access one case report from Kenya and another from Ghana, limiting the completeness of our geographic representation. Fourth, for one included article from South Africa (Reference 29), we were unable to retrieve the complete page numbers despite exhaustive online searches, which may affect the full reproducibility of this citation. Consequently, the findings of this review may not fully capture the entire spectrum of WD cases reported across Africa, and the possibility of publication bias cannot be excluded.

CRediT authorship contribution statement

Telila Mesfin Tadesse: Writing – review & editing, Writing – original draft, Visualization, Validation, Supervision, Software, Resources, Project administration, Methodology, Investigation, Funding acquisition, Formal analysis, Data curation, Conceptualization. Olifan Getachew Wakjira: Writing – original draft, Visualization, Validation, Supervision, Software, Resources, Project administration, Methodology, Investigation, Funding acquisition, Formal analysis, Data curation, Conceptualization. Girma Geta: Supervision, Software, Resources, Project administration, Methodology, Investigation, Funding acquisition, Formal analysis, Data curation, Conceptualization. Gudisa Tolosa: Supervision, Software, Resources, Project administration, Methodology, Investigation, Funding acquisition, Formal analysis, Data curation, Conceptualization. Ibrahim Tikeri: Supervision, Software, Resources, Project administration, Methodology, Investigation, Funding acquisition, Formal analysis, Data curation, Conceptualization. Girma Beressa: Software, Resources, Project administration, Methodology, Investigation, Funding acquisition, Formal analysis, Data curation, Conceptualization.

Consent to participate

Not applicable.

Consent to publish

Not applicable.

Ethical approval

Not applicable.

Funding

No financial support was received for the preparation of this manuscript.

Declaration of competing interest

No conflict of interest.

Data availability statement

Not applicable.