You're not a hypochondriac, it's in your genes: Scientists have discovered H63D Syndrome Type-2

Although H63D syndrome type-2 is not new, this disorder affecting many people has only been discovered, understood and described in recent years. It is a genetic condition caused by a homozygous mutation in the HFE gene H63D. It is characterized by diffuse organ damage and metabolic dysfunction due to oxidative inflammation maintained by reactive oxygen species (ROS). Although iron, particularly non-transferrin-bound iron (NTBI), is thought to play a role in the pathogenesis of the disease, H63D syndrome type-2 is distinct from the much more dangerous H63D syndrome type-1, not to mention hemochromatosis. In type-2, the nervous and endocrine systems appear to be directly disrupted due to impaired signaling cascades. The HFE gene is located on chromosome 6 and encodes a protein that plays a role in regulating iron metabolism. The H63D mutation, the most common mutation associated with HFE, alters the structure of the protein, resulting in increased iron absorption and deposition in tissues.

In H63D syndrome type-2, a homozygous H63D mutation is present, resulting in dysfunction of the HPA and other stress axes that are interconnected and autonomously control most organs. Entertaining oxidative stress cascades after a so-called "second strike" (e.g., other autoimmune diseases, severe infectious diseases, etc.) can cause chronic inflammation and tissue damage throughout the body which is so subtle that it is not detected by most regular testing (lab as well as MRI, CT, etc.) until it is too late to stop the inflammatory state, which may turn into tiny scars that can interfere with the proper function of affected organs.

"The fact that they are so subtle is the main reason doctors overlook these micro-inflammations and declare their patients hypochondriacs," warns Dr. Fabio Rocha of the research team. "We have seen that the high-labile iron pool catalyzes the production of ROS, leading to oxidative damage and inflammation in cells and tissues. This is truly impressive due to its complexity".

But there is more: unlike H63D syndrome type-1, type-2 can also newly appear in older adulthood. "We do not yet know why this is the case, but we are working hard to find answers to this question as well", Dr. Rocha expresses his optimism.

The clinical features of H63D Syndrome type-2 are variable and can affect multiple organs, including the liver, heart, brain, gut, pancreas, and endocrine system. Patients with H63D Syndrome type-2 may present with symptoms such as fatigue, abdominal problems, psychological issues, joint pain, skin discoloration, brain fog, infertility, heart failure, diabetes and many more. In some cases, organ damage may occur after many year in which the condition remains untreated.

The diagnosis of H63D Syndrome type-2 is based on clinical features, genetic testing, laboratory tests, and ruling out all differential diagnoses after a genetic testing will have identified a homozygous mutation in the HFE gene H63D. This is why the diagnostic process may take some time in most of the cases.

If a person has a heterozygous HFE gene H63D mutation or none at all, H63D syndrome is off the table anyway for both types. Therefore, early genetic testing is extremely important.

Standard laboratory tests may show some abnormalities, but there is no one typical standard pattern as known from H63D syndrome type-1 (classic H63D syndrome). Therefore, genetic testing for mutations in the three major HFE genes is a must before beginning an expensive and nerve-wracking diagnostic process to detect H63D syndrome type-2.

The management of H63D Syndrome type-2 focuses on reducing oxidative stress and inflammation in tissues. In minor cases natural antioxidants can be of help, in medium grade and severe cases an endocrinologist has to prescribe anti-inflammatory treatment (e.g. low dose prednisolon). Self-therapy can become very dangerous and must be avoided under any circumstances. "We're talking here about a severe illness that belongs in the hands of medical professionals", Dr. Rocha warns against self-treatment in any way, shape, or form.

Treatment of organ damage may require specific treatment strategies performed by specialists who are open-minded and are willing to use knew scientific knowledge to help their patients.

INTERNATIONAL H63D SYNDROME RESEARCH CONSORTIUM

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This release was published on openPR.