BOONTON, NJ--(Marketwired - Oct 1, 2013) - A newly published report suggests that King Tutankhamun (Tut) may have had hypophosphatasia (HPP), a rare, inherited metabolic bone disease. Over the years and with the advances in science, the life and untimely death of King Tut has been a hotly debated topic. New research questions previous theories, including a previous 2010 paper by Zahi Hawass and others, published in the Journal of the American Medical Association suggesting King Tut died of a combination of malaria and Köhler's disease type II, a disease of the long bones of the foot.
New research and study has led to the theory that King Tut may have had hypophosphatasia and provides the first medical explanation for the unusual physiological findings in Tutankhamun and his father Akhenaten, the world's most famous pharaohs. It may also be verified by a genetic test used to diagnose HPP by testing for defects on the ALPL gene. Abnormalities on this gene lead to production of an inactive form of ALP, an enzyme responsible for the calcification of bones and muscle function.
Author Gerald Brandt began investigating his theory after reading that the condition of Tut's feet pointed to Köhler's disease type II, a rare bone disease of the foot. Brandt's paper, published ahead-of-print in Anthropologischer Anzeiger, an international journal of biological and medical anthropology, relies on medical and archaeological evidence to support the HPP theory.
"Taking into account all the king's other symptoms and injuries, there is no reasonable medical explanation for King Tut to have had Köhler's disease," said Brandt, an expert on HPP and president of the HPP association in Germany. "A clear cause for the bone problems found in Tutankhamun was missing, and HPP appears to be a likely reason."
Brandt believes that the pharaoh and his family, especially his father Akhenaten, might have suffered from a mild form of HPP based on numerous features of the disease common to HPP. The findings in Tutankhamun include:
- a delicate stature
- the significant skull form of all family members (dolichocephaly), which is also typical for HPP
- partially fused neck vertebrae
- the king's fractured thigh bone is rather unusual for a young person; Köhler's disease, on the other hand, causes only damage in the feet
- radiological findings in Tut's feet include necroses, deformities and areas of differing bone density - the latter only typical for HPP, not for Köhler's disease
- Tut's significant walking impairment caused by deformities in his left foot and a flatfoot (right), both typical for HPP; he also used walking sticks
- Tut was depicted in a sitting position during official duties -- in stark contrast from the typical depictions of pharaohs; many HPP patients cannot walk or stand upright for a longer period of time
- signs of scoliosis in Tut, Akhenaten and Thuya, the great-grandmother of Tut
- the two still-born children of Tutankhamun and Ankhesenamun
"Although considered a rare disease, it is clear that anyone can be affected by HPP -- including the world's most famous pharaohs," said Deborah Sittig, who founded Soft Bones in 2009 after her son was diagnosed with HPP. "It's difficult to provide the level of care that is needed for your child or family member when their disease has little information, little to no research, and many times no treatment options. There is a large unmet need for additional research into HPP, and Brandt's paper showcases the common misconceptions and misdiagnoses that frequently occur."
About Hypophosphatasia
HPP is a condition that affects healthy development of bones and teeth, making bones softer and more likely to fracture. People who have HPP have trouble making an enzyme called alkaline phosphatase, or ALP. Without this important ALP enzyme, certain chemicals build up and prevent calcium and phosphorus from binding together and depositing in the bones. As a result, bones can become soft, curved and fragile, and teeth may become loose or fall out prematurely.
The severity of hypophosphatasia is remarkably variable from patient to patient. The most severely affected fail to form a skeleton in the womb and are stillborn. The most mildly affected patients may show only low levels of ALP in the blood, yet never suffer bony problems. It has been estimated that severe forms of hypophosphatasia occur in approximately one per 100,000 live births. The more mild childhood and adult forms are probably somewhat more common. About one out of every 200 individuals in the United States may be a carrier for hypophosphatasia. There is no cure for hypophosphatasia and no proven medical therapy. Some medications are being evaluated. Treatment is generally directed towards preventing or correcting the symptoms or complications.
About Soft Bones Foundation
Soft Bones Foundation was formed in 2009 to provide information and a community to educate, empower and connect patients living with hypophosphatasia (HPP), their families and caregivers. The Foundation will also promote research of this rare bone disease through awareness and fund-raising efforts.
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