Khure Health enables primary care physicians to diagnose rare and specialty conditions faster and more efficiently.
Oncology Cardiology Dermatology Respiratory Musculoskeletal Orphan indications
Multiple rare and specialty diseases supported.
Gaucher disease affects 1 in 100,000 people. It is a rare, inherited lysosomal storage disorder characterized by the build-up of beta-glucocerebroside. There are three main types of Gaucher disease, with Type 1 being the most common form that occurs at any age.
Many people with Type 1 can be asymptomatic or show mild symptoms due to the absence of impact on the nervous system. This can delay their path to diagnosis and treatment. Without proactive treatment, patients with Gaucher disease risk irreversible tissue and organ damage. With the right treatment, patients can prevent or improve their symptoms. Khure Health helps identify high risk patients who may benefit from further evaluation and treatment that can greatly improve their quality of life.
Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic disorder that affects the connective tissues in the body. Patients with LDS present with multiple clinical manifestations that include craniofacial features, vascular findings, skeletal features, as well as cutaneous findings such as dystrophic scars and translucent skin.
LDS is a relatively rare condition impacting about 1 in 100,000 people. It has multiple subtypes as per the genes involved (TGFBR1, TGBFR2, TGFB2, TGFB3, SMAD3) with TGFBR1 (Type 1 LDS) and TGFBR2 (Type 2 LDS) being the most prevalent. The aggressiveness of vascular manifestations is a distinguishing factor when compared to other similar connective tissue disorders such as Marfan syndrome. This also makes it more severe than other disorders (average life expectancy of 37) and therefore, timely diagnosis is crucial.
Khure Health aids in early diagnosis and provides patients and physicians with the appropriate next steps for improving disease outcomes and quality of life.
Neuroblastoma is one of the most commonly occurring extracranial solid tumors in childhood. It is formed from neural crest cells in developing sympathetic systems. With a disease prevalence of 1-5/10,000, it is the most common malignancy in the first year of life.
While this disorder represents 5% of the total pediatric cancer diagnosis, it disproportionately results in 9% of the total pediatric deaths from cancer. The symptoms for this disorder can vary significantly as they depend on the size and the location of the tumor as well as the age of the patient. Metastases is present in about 50% of the patients during the diagnosis, with bone marrow, bone, and regional lymph nodes being the most common sites.
Recognizing high-risk patients early is key to help reduce mortality. Khure Health helps with early screening that can significantly improve survival rates and overall quality of life.