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Актуальность. В работе на основе создания реестра семейных форм рассеянного склероза (РС) на модели Харьковского региона изучены особенности разных типов течения (рецидивирующего (РТ), вторично-прогредиентного (ВПТ), первично-прогредиентного (ППТ)) при спорадической и семейной формах заболевания. С помощью метода анкетирования изучены клинические показатели, характеризующие различные временные этапы при разных типах течения РС: доклинический этап, дебют, полнота и длительность ремиссий после дебюта, рецидивирующий этап для РТ и ВПТ, пути формирования этапа прогрессирования для ВПТ и ППТ, этап прогрессирования, включая такие его варианты, как неуклонный, рецидивирующий, поступательный, и темпы прогрессирования. С помощью клинико-математического анализа (метод пермутации) были получены достоверные клинико-диагностические различия в структуре клинических показателей на каждом этапе течения для спорадической и семейной форм РС. Материалы и методы. Обследован 131 больной, в том числе 87 (18 мужчин и 69 женщин) со спорадической формой и 44 (16 мужчин и 28 женщин) с семейной формой. При спорадической форме у 55 больных наблюдалось РТ, у 25 — ВПТ, у 7 — ППТ; при семейной форме у 22 больных — РТ, у 15 — ВПТ, у 7 — ППТ. Результаты. При РТ для спорадической формы, в отличие от семейной, чаще встречался благоприятный прогноз с достоверным преобладанием олигосиндромных дебютов и коротких рецидивов с быстрыми темпами развития на рецидивирующем этапе. При семейной форме, в отличие от спорадической, преобладал неопределенный прогноз, при котором чаще встречались (р < 0,05) предвестники дебюта, сфинктерные нарушения в дебюте, длительные рецидивы с замедленными темпами формирования. При ВПТ для спорадической формы неопределенный характер прогноза формировался благодаря таким клиническим показателям, как короткие дебюты, длительные ремиссии после дебюта, рецидивирующий вариант прогрессирования, преобладание пирамидной и мозжечковой симптоматики на этапе прогрессирования. При семейной форме и неблагоприятном прогнозе преобладали тяжелый и длительный дебют, сфинктерные нарушения и атипичные синдромы в дебюте, формирование ВПТ непосредственно после дебюта, минуя рецидивирующий этап. При ППТ для спорадической формы с неопределенным прогнозом были характерны длительный дебют, наличие этапа стабилизации после дебюта, стволовая симптоматика на этапе прогрессирования. При семейной форме преобладал неблагоприятный прогноз, который характеризовался олигосиндромным и неопределенным по длительности дебютом и формированием этапа прогрессирования непосредственно после дебюта. Выводы. Полученные паттерны клинических показателей, выделенные при разных формах РС, свидетельствуют о более неблагоприятном прогнозе для всех типов течения семейной формы по сравнению со спорадической, в первую очередь для прогредиентных типов течения.

Extramammary Paget’s disease (EMPD) is a rare intraepithelial neoplasm that occurs in apocrine-bearing areas of skin. Most EMPD patients initially present with chronic pruritic eczematous lesions involving genitalia, perineum and perianal area. Familial form of EMPD is extremely rare. Several genetic mutations have been proposed but specific modes of inheritance are still unknown. This article reports two cases of familial extramammary Paget’s disease in female siblings.

Graphical abstract, Highlights • BAV is associated with risk for dissection of the proximal aorta. • Thorough BAV investigation is required for any aortic dissection. • Familial forms of BAV are probably associated with an increased risk for aortopathy. • Familial screening is desirable to organize follow-up of each patient with BAV.

In contemporary surgical series, the incidence of multifocal tumours (MFT) in small bowel neuroendrocrine tumours (SBNET) is as high as 50%. Familial forms of SBNET appear to have an even higher rate of MFTs in the range of 80%. Multifocal disease poses several challenges and questions for the operating surgeon, including the cause of the disease whether it is local metastases or a genetic field defect, the extent of the resection, and the prognosis. The etiology of these multiple tumours appears to be multifactorial and may represent localized metastases in some, a genetic mutation resulting in the rare familial form of this disease in others, or the integration of genetic and epigenetic events within the bowel. Contrary to historical series, recent data suggest that MFT are not associated with a poorer prognosis. The challenge remains on the long-term surveillance of these unique tumours.

The recent approval of aducanumab for Alzheimer's disease has heightened the interest in therapies targeting the amyloid hypothesis. Our research has focused on identification of novel compounds to improve amyloid processing by modulating gamma secretase activity, thereby addressing a significant biological deficit known to plague the familial form of the disease. Herein, we describe the design, synthesis, and optimization of new gamma secretase modulators (GSMs) based on previously reported oxadiazine 1. Potency improvements with a focus on predicted and measured properties afforded high-quality compounds further differentiated via robust Aβ42 reductions in both rodents and nonhuman primates. Extensive preclinical profiling, efficacy studies, and safety studies resulted in the nomination of FRM-024, (+)-cis-5-(4-chlorophenyl)-6-cyclopropyl-3-(6-methoxy-5-(4-methyl-1H-imidazole-1-yl)pyridin-2-yl)-5,6-dihydro-4H-1,2,4-oxadiazine, as a GSM preclinical candidate for familial Alzheimer's disease.

Cerebral cavernous malformations are focal vascular lesions of the brain, occurring sporadically or as an autosomal dominant familial form. The genetic background influences not only the clinical course but also patients' consultation and the indication to treat. We here present the rare case of monozygotic male twins of a polyzygotic triplet birth, carrying a CCM1 mutation, inherited from the mother. Both twins showed an identical site and size of a large frontobasal lesion. The genetic segregation and the clinical course in affected family members are presented and discussed.

Objective We report a kindred with a genetic form of REM behaviour disorder (RBD) with autosomal dominant transmission. Patients and methods Clinical, polysomnography study, genetic study and brain MRI were performed to evaluate the index patients. The genetic study included exome sequencing of the index cases that detected 60,869 variants in the individuals examined. Results The kindred has a RBD with autosomal dominant transmission starting in second decade of life. After filtering out the exome variants shared by two affected cases the pool of variants could be reduced to thirteen; one of them is in PVALB, a calcium-binding albumin protein present in gabaergic interneurons in the nervous system that inhibit the pyramidal cell during REM sleep. Conclusions RBD can have a genetic origin. The results of the exome study in this kindred suggest that gabaergic circuits may be altered in patients with RBD. Further studies in this family or in other pedigrees with familial RBD may clear the role of this gene in this disorder.

Background: Alzheimer’s disease (AD) is the most common most common form of neurodegenerative of neurodegenerative disease. It is an irreversible condition marked by irreversible cognitive loss, commonly attributed by the loss of hippocampal neurons due to the formation of senile plaques and neurofibrillary tangles. Although the sporadic form is the most prevalent, the presence of familial form (involving several genes such as APP, PSEN1 and PSEN2) of the disease is commonly used as a model for understanding the pathophysiology of the disease. The aim of this study is to investigate the effect of mutation on PSEN1 and PSEN2 genes on the BBB function using induced pluripotent stem cells (iPSCs) . Methods: iPSC lines from patients suffering from familial form of Alzheimer’s diseases and harboring mutations in PSEN1 or PSEN2 were used in this study and compared to a control iPSC line. Cells were differentiated into brain microvascular endothelial cells ( BMECs ) following existing established differentiation protocols. Barrier function was assessed by measuring TEER and fluorescein permeability, drug transporters activity was assessed by uptake assay, glucose uptake and metabolism assessed by cell flux analyzer, mitochondrial potential by JC-1 and lysosomal acidification by acridine orange. Results: iPSC derived BMECs from the FAD patient presenting a mutation in PSEN1 gene PSEN1-BMECs, but not PSEN2-BMECs, showed impaired barrier function compared to the FAD patient harboring a mutation in PSEN2 and to control group. Such impaired barrier function correlated with poor tight junction complexes and reduced drug efflux pump activity. In addition, both PSEN1 and PSEN2 -BMECs displayed reduced glucose uptake and glycolysis, as well as impaired mitochondrial membrane potential and lysosomal acidification. Conclusion: Our study reports evidence that PSEN1 and PSEN2 mutations, two genes commonly associated with familial form of Alzheimer’s disease that iPSC -derived BMECs obtained from FAD patients showed impaired barrier properties and BMECs metabolism. In particular, PSEN1 mutation was associated with a more detrimental phenotype than the PSEN2 mutation, as noted by a reduced barrier function, reduced drug efflux pump activity and diminished glucose metabolism . , can impair the development and the maintenance of the BBB, both by an impairement of the barrier function, vesicle trafficking and bioenergetics. Therefore, assessing the contribution of genetic mutations associated with Alzheimer’s disease will allow us to better understand the contribution of the BBB in dementia, but also in other neurodegenerative diseases.

Introduction Atrioventricular nodal reentry tachycardia (AVNRT) is one of the most common regular supraventricular arrhythmia referred for catheter ablation (CA). Although, several families with familial form of AVNRT (FAVNRT) in Subcarpathia province (SP, Poland), the comparison or prevalence of FAVNRT and comparison of their incidence in other provinces in Poland were not prospectively validated. Methods Data was derived from prospective multicenter registry of CA (ELEKTRO- ELMedica Network). Between year 2010 to 2018, the clinical data of 1544 patients with invasively documented AVNRT were verify for family history of FAVNRT. From December 2016 to March 2019 each patient with AVNRT were consulted with detailed family history and family residence origin with up to three-generation pedigree. Families with substantiate form of FAVNRT (at least two persons from the family after invasive validation of AVNRT and CA) divided into three groups according to their origin. Results From 1544 recruited patients 932 had origin in south-eastern provinces (SEP) of Poland [n=379, from SP; n=34, from Lubelskie; n=214, from Lesser Poland; and n=305 from Holy Cross]. The rest of the group (n=612) consisted of patients from other, not SEP parts of the country – other part of Poland (RPP). Finally, 45 (2,91%) patients from 24 families had diagnosed FAVNRT. The incidence of FAVNRT was significantly higher in SEP than RPP (4.02% vs 1.17%). Moreover, patients from SP has the highest prevalence of FAVNRT (6.33%) as compared to other provinces of SEP (2.47%). In SP and in bordering SEP provinces as well as the RPP appropriate risk (according to previous region) of FAVNRT was respectively 2.67 (95% CI: 1.36–5.23; P Conclusion Based on Hill's Criteria for Causality observed biological monotonic risk gradient of FAVNRT is proving geographical cause of increased prevalence of FAVNT. The closer they are the higher they is to the most endangered provinces in Poland- SP that also adjoined to Ucraine and Slovakia. Further, international, trans-border cooperation and genetic testing are required to validate genetic impact of FAVNRT in past Galicia region of Central Europe. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Study is funding by the research grant DI2015 021945 from budget resources in 2015 to 2017, as a research project in “Diamentowy Grant” program from “Narodowe Centrum Badan i Rozwoju (PL)”.

Background: Cerebral cavernous malformation (CCM), especially the familial form, is a relatively rare congenital and occult vascular disease of the central nervous system. The familial form of CCM has been linked to three different genes: KRIT1/ CCM1, MGC4607/ CCM2, and PDCD10/ CCM3; however, the genetic basis of CCM is not well understood. The PDCD10/ CCM3 is the most recent gene to be identified that results in worse clinical symptoms. Early diagnosis and treatment is important for patient prognosis. Case report: The proband is a 38-year-old male who has been suffering from weakness in the limbs for 7 months. Investigation of his family history revealed that his mother also suffered from limbs paralysis and had been bedridden for a long time. His older brother suffered from headache for years, whereas his younger brother was asymptomatic. Brain computed tomography analysis of all family members showed multiple high-density shadows. Subsequently, magnetic resonance imaging analysis identified more prominent and similar multiple intracranial lesions in all family members. The lesions were hypo-intense, or showed mixed signs on T1-weighted imaging, and were significantly more intense on T2-weighted imaging. To understand the genetic basis of the disease in the family, DNA sequencing analysis was performed. A novel deletion mutation in the PDCD10/ CCM3 gene was identified in the proband and his relatives. The deletion resulted in a frameshift mutation and premature termination of translation of the protein, and potentially caused the disease in this family. Conclusions: Our study identified a novel PDCD10/ CCM3 heterozygous deletion (c.165delT) associated with CCM. This finding expands the CCM gene mutation profile, which will be beneficial for genetic counseling and clinical therapy.

Introduction:Ehlers–Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders that affect the synthesis and structure of collagen in a ubiquitous manner. The clinical presentation can vary according to the associated genetic mutation. The 2017 international classification of EDS describes 13 types of EDS.Observation: The first part of this paper describes the surgical-orthodontic treatment for two sisters affected by a common and familial form of EDS, with a follow-up period of 8 years. The main symptoms were agenesis, impacted teeth, and delayed eruptions.Discussion: The second part proposes a review of oro-dental manifestations and discusses therapeutic approaches for patients with EDS.Conclusion: EDS can affect the oro-dental region with numerous consequences. Recognition of clinical symptoms and radiological signs is essential to provide appropriate dental care. Moreover, complete clinical and radiological assessment can allow early diagnosis of EDS.

Non-compaction cardiomyopathy is a rare genetic condition and may occur either in a familial form or in a sporadic form. It is characterized by excessive trabeculation and occurrence of deep intertrabecular recesses. Usually the diagnosis is made during an accidental echocardiography or during the screening process of the family members. Although there is no gold standard for the diagnosis, Jenni et al. criteria used during echocardiography examination are the most common. Treatment is based on suppressing the progression of heart failure, thromboembolism prevention and dealing with arrhythmias. Moreover, patients have often cardioverter-defibrillator implanted and they are enrolled on the heart transplant list.

Background: Alzheimer’s disease (AD) is the most common form of neurodegenerative disease. It is an irreversible condition marked by irreversible cognitive loss, commonly attributed by the loss of hippocampal neurons due to the formation of senile plaques and neurofibrillary tangles. Although the sporadic form is the most prevalent, the presence of familial form (involving several genes such as APP, PSEN1 and PSEN2) of the disease is commonly used as a model for understanding the pathophysiology of the disease. The aim of this study is to investigate the effect of mutation on PSEN1 and PSEN2 genes on the BBB function using induced pluripotent stem cells. Methods: iPSC lines from patients harboring mutations in PSEN1 or PSEN2 were used in this study and compared to a control iPSC line. Cells were differentiated into BMECs following existing protocols. Barrier function was assessed by measuring TEER and fluorescein permeability, drug transporters activity was assessed by uptake assay, glucose uptake and metabolism assessed by cell flux analyzer, mitochondrial potential by JC-1 and lysosomal acidification by acridine orange. Results: PSEN1-BMECs, but not PSEN2-BMECs, showed impaired barrier function compared to control group. Such impaired barrier function correlated with poor tight junction complexes and reduced drug efflux pump activity. In addition, both PSEN1 and PSEN2 displayed reduced glucose uptake and glycolysis, as well as impaired mitochondrial membrane potential and lysosomal acidification. Conclusion: Our study reports evidence that PSEN1 and PSEN2 mutations, two genes commonly associated with familial form of Alzheimer’s disease, can impair the development and the maintenance of the BBB, both by an impairment of the barrier function, vesicle trafficking and bioenergetics. Therefore, assessing the contribution of genetic mutations associated with Alzheimer’s disease will allow us to better understand the contribution of the BBB in dementia, but also in other neurodegenerative diseases.

Hemophagocytic lymphohistiocytosis (HLH), a rare but life-threatening condition characterized by uncontrolled inflammation, is increasingly recognized in adults. The management of adult onset HLH is challenging, in part due to gaps in current state of knowledge on etiology, clinical presentation, diagnosis, and management. HLH secondary to triggers such as infections, autoimmune disorders, and malignancy are more commonly seen in adults although cases of familial form have also been reported. Underlying conditions such as sepsis, or malignancy could pose as major confounders while applying universal diagnostic criteria, and therefore could lead to delay in diagnosis. Despite advent of newer therapeutic agents, outcomes of adults continue to remain poor. Future efforts need to be orchestrated to develop evidence-based tailored therapies to improve outcomes of this under recognized heterogeneous entity.

Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the KRT5 and KRT14 genes that compromise the mechanical stability of epithelial cells. By performing DNA sequencing in a female patient with EBS, we found the pathogenic variant c.967G>A (p.Val323Met) in the KRT5 gene. This variant co-segregated with EBS in the family pedigree and was transmitted in an autosomal dominant inheritance manner. This is the first report showing a familial form of EBS due to this pathogenic variant.

International audience; This article describes navigation data of 14 month-old APPPS1 and C57Bl6 in the Starmaze task. These data were acquired as positive controls of memory deficit in a model of the familial form of Alzheimers’s disease (see Schmitt et al., Flexibility as a marker of early cognitive decline in humanized Apolipoprotein E ε4 (ApoE4) mice, Neurobiol Aging, 2021). They were acquired in a reduced version of the Starmaze environment and accompanied by a number of acquisitions in different control groups at 6 and 14 months to assess the robustness of the procedure and its associated memory scores. These data illustrate the extraction of a variety of navigation scores (including search strategy, spatial learning and memory) and provide a reference of navigation data in the Starmaze task for healthy 6-month-old controls, normal aging and a model of pathological memory deficit.

Background Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility. Methods Three Moroccan siblings, born from non-consanguineous Moroccan healthy parents were referred for genetic evaluation of familial scleroderma. Whole Exome Sequencing was performed in the proband and his parents, in addition to Sanger sequencing that was carried out to confirm the results obtained. Results Mutation analysis showed two compound heterozygous mutations c.196C>T in exon 4 and c.635_636delTT in exon 9 of GNPTG gene. Sanger sequencing confirmed these mutations in the affected patient and demonstrated that their parents are heterozygous carriers. Conclusion Our findings expand the mutation spectrum of the GNPTG gene and extend the knowledge of the phenotype–genotype correlation of Mucolipidosis Type III gamma. This report also highlights the diagnostic utility of Next Generation Sequencing particularly when the clinical presentation did not point to specific genes.

Parkinson's disease is the second most common neurodegenerative disorder after Alzheimer's disease and is estimated to affect approximately 1-4% of individuals aged over 60 years old. Although considerable efforts have been invested into developing disease-modifying therapies for Parkinson's disease, such efforts have been confounded by the difficulty in accurately diagnosing Parkinson's disease during life to enable accurate patient stratification for clinical trialling of candidate therapeutics. Therefore, the search for effective biomarkers that can be accurately evaluated during life with non-invasive means is a pressing issue in the field. Since the discovery of α-synuclein (α-syn) as a protein linked to a familial form of Parkinson's disease, later identified as the major protein component of the neuropathological hallmark of idiopathic Parkinson's disease, considerable interest has focused on this protein and its distinct conformers. We describe here the progress that has been made in the area of Parkinson's disease biomarker discovery with a focus on α-synuclein. In particular, we highlight the novel assays that have been employed and the increasing complexity in evaluating α-synuclein with regard to the considerable diversity of conformers that exist in the biofluids and peripheral tissues under disease conditions. "This article is part of the Special Issue Synuclein."

Anorexia nervosa (AN) is a severe debilitating eating disorder. To date, only very few genes that predispose to AN have been identified. An alternative to association studies is to characterize ultra-rare variants in familial forms of AN. Here, we have implemented this approach to identify pathways that contribute to the development of AN through the analysis of a family with three members suffering from AN by exome analysis. We identified three ultra-rare deleterious variants in three genes (DRD4, CCKAR, NMS), already connected to the reward pathway, that co-segregate with AN, suggesting that this pathway might be playing a predisposing role in AN at least in familial forms.

An increased aggressiveness of familial papillary thyroid carcinoma (FPTC) compared with sporadic form has been reported. On the contrary, the biological behavior of familial microPTC (FmPTC) is still debated. To assess if familial diseases should be considered as a negative prognostic factor in mPTC, the clinical presentation and outcome of FmPTC and sporadic mPTC (SmPTC) were compared. We retrospectively analyzed 291 mPTC (SmPTC n = 248, FmPTC n = 43) patients followed for a median follow-up of 8.3 years. FmPTC was defined as the presence of PTC in two or more first-degree relatives, after excluding hereditary syndromes associated with PTC. FmPTC patients had more frequently bilateral tumor (32.6% versus 16.5%, p = 0.01) and lymph node metastases at diagnosis (30.2% versus 14.9%, p = 0.02). At the first follow-up, FmPTC patients had a higher rate of structural disease and a lower rate of remission compared to SmPTC (p = 0.01). Also in a multivariate model, using a “CHAID tree-building algorithm”, familial disease correlated with a worse clinical presentation and outcome of mPTC patients. Familial disease was associated with a higher rate of intermediate risk patients in non incidental mPTC and with a higher rate of structural incomplete response in mPTC without lymph node metastases (p = 0.01). Like in macroPTC, the familial form of the diseases has been shown to be a negative prognostic factor also in mPTC, therefore, it should be highly regarded in the management of mPTC patients.

Purpose The purpose of this study was to assess the accuracy of susceptibility-weighted imaging (SWI), compared with T2*-weighted gradient echo (GRE) imaging in assessing cerebral cavernous malformations. Materials and methods We retrospectively evaluated 21 patients with a familial form of cavernous malformation. Magnetic resonance (MR) protocol included non-enhanced and contrast-enhanced fast-spin echo (FSE) T1-weighted sequences, FSE T2-weighted sequences, fluid-attenuated inversion-recovery (FLAIR), GRE T2*-weighted and SWI sequences. Images were reviewed in consensus by two expert neuroradiologists to assess the location, number, size and conspicuity of the lesions on T2*-weighted GRE and SWI sequences. Statistical differences in the number, size and conspicuity of the lesions seen on the SWI images and the T2*-weighted GRE images were assessed with the nonparametric Wilcoxon signed rank test. Results The number of cavernous malformations was significantly higher ( p Conclusions The SWI sequence, being more sensitive to substances which distort the local magnetic field than the GRE T2*W sequence, showed a higher sensitivity in identifying cerebral cavernous malformations. Thus, routine clinical neuroimaging protocol should contain SWI sequences to evaluate patients with (or suspected) cerebral cavernous malformations.

Primary localized cutaneous amyloidosis is a group of rare conditions where amyloid deposition is limited to the skin without systemic manifestations. Most cases are sporadic; however, mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes can cause a familial form of the condition in up to 10% of cases. Here, we describe a family in which 8 female individuals are affected by either macular amyloidosis or amyloidosis cutis dyschromica. To the best of our knowledge, a sex-specific expression or the coexistence of 2 different phenotypes of primary localized cutaneous amyloidosis in 1 pedigree has not yet been reported.

Cerebral cavernous malformations (CCMs), which occur in a sporadic or familial form, can predispose a person to seizures, focal neurological impairment, and hemorrhage. Upon discovery floating in a swimming pool, a 3-year-old boy was unresponsive and not breathing, but he achieved uneventful recovery after adequate cardiopulmonary resuscitation. Diagnostic head magnetic resonance imaging confirmed multiple CCMs. Absence of affected family members was indicative of the sporadic form. Subsequently, he developed social communication deficits and restricted and repetitive behaviors, suggestive of autism spectrum disorders (ASD). Comorbidity of CCMs and ASD is rare. Seizure associated with multiple CCMs might precipitate unintentional drowning.

Amyotrophic lateral sclerosis (ALS) is a fatal motor disease in adults. Its pathophysiology remains mysterious, but tremendous advances have been made with the discovery of the most frequent mutations of its more common familial form linked to the C9ORF72 gene. Although most cases are still considered sporadic, these genetic mutations have revealed the role of RNA production, processing and transport in ALS, and may be important players in all ALS forms. There are no disease-modifying treatments for adult human neurodegenerative diseases, including ALS. As in spinal muscular atrophy, RNA-targeted therapies have been proposed as potential strategies for treating this neurodegenerative disorder. Successes achieved in various animal models of ALS have proven that RNA therapies are both safe and effective. With careful consideration of the applicability of such therapies in humans, it is possible to anticipate ongoing in vivo research and clinical trial development of RNA therapies for treating ALS.

Background: It has been proven that a family history of systemic lupus erythematosus (SLE) is a risk factor for the development of the disease, and the risk increases with increasing number of relatives affected. In Saudi Arabia, high consanguinity rate leads to higher incidence of familial form than in other countries. We compare the percentage of familial versus sporadic SLE among Saudi patients. The second aim of the present study is to compare clinical characteristics between the two forms of the disease. Methods: This cross-sectional study includes 47 female patients whom are selected and investigated through three phases. We have added additional two categories of relatives, based on unconventional definition. We have examined and compared demographic characteristics of the patients with familial and sporadic SLE. We have also compared the percentage of familial vs. sporadic lupus and clinical characteristics of the two forms. Results: All the patients are females, aged between 18 and 43 years. The highest percentage of patients resides in the central region of Saudi Arabia (34%). The origin of the big family or tribe also most commonly occurs in the central region (34%). Data analysis results in 27.7% of patients with familial form of SLE. Sporadic form is found in 72.3% of patients. Consanguinity between patients’ parents is noticed in both familial form (61.5%) and sporadic form (58.8%). Clinical manifestations are similar between patients with familial and sporadic form. Conclusion: Our results show a high percentage of familial lupus among Saudi patients. More research is required in order to estimate the inheritance pattern of familial SLE and involvement of genetic and environmental factors.