The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Reduced natural killer cell activity||13/13|
|Abnormal natural killer cell physiology||-|
|Autosomal recessive inheritance||-|
|Failure to thrive||-|
|Increased circulating very-low-density lipoprotein cholesterol||-|
|Increased CSF protein||-|
|Increased intracranial pressure||-|
|Increased serum ferritin||-|
|Increased total bilirubin||-|
|Prolonged partial thromboplastin time||-|
|Prolonged prothrombin time||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My daughter has HLH. Can HLH cause a brain injury? How does HLH relate to these types of injuries? If you could send me information on how HLH affects the brain, and is there chance of recovery when this happens. Thank you for your time. See answer
Can you elaborate on some the causes of this disease in adults? Specifically, what triggers HLH and what is the general mortality rate? See answer
My granddaughter had familial hemophagocytic lymphohistiocytosis when she was 8 months old. Can her brothers also develop this disease? I have noticed that both of the boys have had skin problems but the older one, now 13, has developed asthma and unexplained headaches. My granddaughter received a BMT from the 2nd born who is now 11 years old. Is there any testing we can have done to check the boys for the presence or absence of the disease? See answer
What is HLH and what are the symptoms of this condition? See answer